Prof John Hardy

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Personal Profile

Name: John Hardy Email: j.hardy@ucl.ac.uk
Title: Prof Tel: 020 3448 4722
Department: Molecular Neuroscience Fax: 020 7833 1016
Position: Chair of the Molecular Biology of Neurological Disease Address: Queen Square House, Queen Square, London , WC1N 3BG
Research Domain: Basic Life Sciences, Neuroscience, Personalised Medicine Web Page: Personal Web Page

Profile

Research Description

My research interests are in the genetic analysis of disease. Historically, we have worked on the genetic analysis of Alzheimer's disease and other dementias. More recently, we have worked on Parkinson's disease and other movement disorders and, most recently on motor neuron disease. Our early studies were on mendelian forms of disease and these studies continue, but an increasing focus has been on the genetic analysis of complex traits related to disease. Additionally, this latter analysis has made us increasingly interested in population genetics because the risk variants for human traits are likely to be different in different racial groups.
In all cases our intention is to develop an understanding of the underlying genetics of a disorder so we can work with those making cellular and animal models of the disease to help, both in the unerstanding of disease mechanisms and to help in the search for treatements. In this regard, we therefore have three types of collaborations: collaborations with clinicians who treat patients with disease, especially colleagues at the Institute of Neurology, but also elsewhere, collaborations with other geneticists to collaboratively analyse such patient material, and collaborations with cell biologists and transgenic mice people to eneble them to build good models of disease.


Research Activities

A systematic investigation into the pathogenesis and course of Parkinson's syndrome

Cellular mechanisms underlying neurodegeneration

Clinical, genetic and cell biology studies of hereditary movement disorders: dystonia, Huntington’s disease, Hereditary spastic paraplegia

Genetic studies of neurological disease

Inflammatory conditions of the gastrointestinal tract

Neurological disease

Neuromuscular and Neurodegenerative Disorders

Parkinsons disease and related Movement Disorders

The neurogenetics of neurodegenerative disease

population genetics

Education Description

UCL Collaborators

Prof Parmjit Jat; Prof Alan Thompson; Prof Andres Ruiz-Linares; Prof Tarek Yousry; Prof Henry Houlden; Dr Jose Tomas Bras; Dr Laura Silveira Moriyama; Prof Andrew Lees; Dr Richard Orrell; Prof Ivan Gout; Dr Andrey Abramov; Dr Mark Cooper; Dr Helen Ling; Prof Ziheng Yang; Prof John Collinge; Dr Simon Mead; Dr Jan-Willem Taanman; Prof Sebastian Brandner; Prof Elizabeth Fisher; Prof Kailash Bhatia; Prof Sarah Tabrizi; Dr Peter-Christian Kloehn; Dr Derralynn Hughes; Prof Peter Hindmarsh; Prof Michael Duchen; Prof Dimitri Michael Kullmann; Prof Tony Schapira; Dr Marc Soutar; Dr Rita Louro Guerreiro; Prof Nicholas Wood; Prof Martin Rossor; Dr Helene Plun-Favreau; Prof Tamas Revesz; Prof Linda Greensmith; Dr Shi-Yu Yang; Prof Amit Nathwani; Prof Tom Warner; Dr Stephanie Schorge; Prof Mike O'hare; Prof Francesco Muntoni; Prof Nick Fox; Prof Lucy Wedderburn; Prof David Joseph Balding

External Collaborators

Dr Dario Alessi; Dr James Martin Staddon; Dr Alexander James Whitworth; Dr Atul Mehta

Publications

    2014

    • Schlaudraff F, Grundemann J, Fauler M, Dragicevic E, Hardy J, Liss B (2014). Orchestrated increase of dopamine and PARK mRNAs but not miR-133b in dopamine neurons in Parkinson's disease. NEUROBIOLOGY OF AGING, 35(10), 2302 - 2315. doi:10.1016/j.neurobiolaging.2014.03.016
    • Andreasson U, Lautner R, Schott JM, Mattsson N, Hansson O, Herukka SK, Helisalmi S, Ewers M, Hampel H, Wallin A, Minthon L, Hardy J, Blennow K, Zetterberg H (2014). CSF biomarkers for Alzheimer's pathology and the effect size of APOE ɛ4.. Mol Psychiatry, 19(2), 148 - 149. doi:10.1038/mp.2013.18
    • Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, UK Brain Expression Consortium , North American Brain Expression Consortium , Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, Weale ME, UK Brain Expression Consortium , North American Brain Expression Consortium (2014). Genetic variability in the regulation of gene expression in ten regions of the human brain.. Nat Neurosci, , - . doi:10.1038/nn.3801
    • Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M (2014). A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation.. J Alzheimers Dis, , - . doi:10.3233/JAD-141512
    • Erro R, Bhatia KP, Hardy J (2014). GNAL Mutations and Dystonia.. JAMA Neurol, 71(8), 1052 - 1053. doi:10.1001/jamaneurol.2014.1506
    • Yu J-T, Tan L, Hardy J (2014). Apolipoprotein e in Alzheimer's disease: An update. Annual Review of Neuroscience, 37, 79 - 100. doi:10.1146/annurev-neuro-071013-014300
    • Sassi C, Guerreiro R, Gibbs R, Bras J, Hardy J, Ding J, Singleton A, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo J-M, Adnan J, Killick R, Powell JF, Brown KS, Medway C, Lord J, Turton J, Morgan K (2014). Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2014.06.002
    • Schottlaender LV, Houlden H, Multiple-System Atrophy (MSA) Brain Bank Collaboration (2014). Mutant COQ2 in multiple-system atrophy.. N Engl J Med, 371(1), 81 - . doi:10.1056/NEJMc1311763#SA3
    • Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, International Parkinson's Disease Genomics Consortium (IPDGC) , Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) , 23andMe , GenePD , NeuroGenetics Research Consortium (NGRC) , Hussman Institute of Human Genomics (HIHG) , The Ashkenazi Jewish Dataset Investigator , Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE) , North American Brain Expression Consortium (NABEC) , United Kingdom Brain Expression Consortium (UKBEC) , Greek Parkinson's Disease Consortium , Alzheimer Genetic Analysis Group , Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB (2014). Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.. Nat Genet, , - . doi:10.1038/ng.3043
    • Mok KY, Hardy J, Jones EL, Ballard C, Hanney M, Harold D, Sims R, Williams J (2014). Erratum to "Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome" [Neurobiol. Aging 35 (2014) 1513.e1-1513.e5] (DOI:10.1016/j.neurobiolaging.2013.12.022). Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2014.06.017
    • Sassi C, Guerreiro R, Gibbs R, Bras J, Hardy J, Ding J, Singleton A, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Powell JF, Brown KS, Medway C, Lord J, Turton J, Morgan K, Mann D, Snowden J, Neary D, Harris J (2014). Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of Aging, 35(10), - . doi:10.1016/j.neurobiolaging.2014.04.026
    • Mok KY, Hardy J, Jones EL, Ballard C, Hanney M, Harold D, Sims R, Williams J (2014). Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2013.12.022
    • Ferrari R, Momeni P, Simone R, Nicolaou N, Hondhamuni G, Vandrovcova J, Lees AJ, Hardy J, De Silva R, Ryten M, Trabzuni D, Ramasamy A, Weale ME (2014). Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2014.01.010
    • Benitez BA, Jin SC, Harari O, Bertelsen S, Goate AM, Cruchaga C, Fagan AM, Holtzman DM, Morris JC, Harold D, Sims R, Williams J, Graham R, Haddick PCG, Van der Brug MP, Bhangale T, Ortmann W, Behrens T, Singleton A, Hardy J, Guerreiro R, Gibbs JR, Bras J, Sassi C, Kauwe JSK, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Lord J, Brown K, Medway C, Turton J, Braae A, Barber I, Morgan K, Lupton MK, Powell J, Lambert J-C, Bellenguez C, Amouyel P (2014). Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2013.12.010
    • Ling H, Kara E, Revesz T, Lees AJ, Plant GT, Martino D, Houlden H, Hardy J, Holton JL (2014). Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.
    • Ling H, Lees A, Kara E, de Silva R, Li A, Kiely A, Courtney R, Xiromerisiou G, Holton JL, Houlden H, Hardy J, Revesz T (2014). Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity?.
    • Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Schapira AH, Quinn N, Love S, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL (2014). How do G51D SNCA mutation cases compare clinically and neuropathologically to SNCA duplication and H50Q SNCA mutation?.
    • Dong J, Gao J, Nalls M, Gao X, Huang X, Han J, Singleton AB, Chen H, International Parkinson's Disease Genomics Consortium (IPDGC) (2014). Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease.. Neurobiol Aging, 35(6), 1512.e5 - 1512.10. doi:10.1016/j.neurobiolaging.2013.12.020
    • Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, Lammich S, Molinuevo JL, Sánchez-Valle R, Antonell A, Ramirez A, Heneka MT, Sleegers K, van der Zee J, Martin JJ, Engelborghs S, Demirtas-Tatlidede A, Zetterberg H, Van Broeckhoven C, Gurvit H, Wyss-Coray T, Hardy J, Colonna M, Haass C (2014). TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.. Sci Transl Med, 6(243), 243ra86 - . doi:10.1126/scitranslmed.3009093
    • Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW, on behalf of the International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium (2014). Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.. Brain, , - . doi:10.1093/brain/awu179
    • Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H (2014). A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism: Phenotype-Genotype Correlations.. JAMA Neurol, , - . doi:10.1001/jamaneurol.2014.994
    • Mok KY, Hardy J, Jones EL, Ballard C, Hanney M, Harold D, Sims R, Williams J (2014). Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2013.12.022
    • Benitez BA, Jin SC, Harari O, Bertelsen S, Goate AM, Cruchaga C, Fagan AM, Holtzman DM, Morris JC, Harold D, Sims R, Williams J, Graham R, Haddick PCG, Van der Brug MP, Bhangale T, Ortmann W, Behrens T, Singleton A, Hardy J, Guerreiro R, Gibbs JR, Bras J, Sassi C, Kauwe JSK, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Lord J, Brown K, Medway C, Turton J, Braae A, Barber I, Morgan K, Lupton MK, Powell J, Lambert J-C, Bellenguez C, Amouyel P (2014). Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2013.12.010
    • Ferrari R, Momeni P, Simone R, Nicolaou N, Hondhamuni G, Vandrovcova J, Lees AJ, Hardy J, De Silva R, Ryten M, Trabzuni D, Ramasamy A, Weale ME (2014). Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging, 35(6), - . doi:10.1016/j.neurobiolaging.2014.01.010
    • Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N (2014). A nonsense mutation in PRNP associated with clinical Alzheimer's disease.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2014.05.013
    • Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson D, Singleton A, Hardy J (2014). Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.. Hum Mol Genet, , - . doi:10.1093/hmg/ddu334
    • Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P (2014). Frontotemporal dementia and its subtypes: a genome-wide association study.. Lancet Neurol, 13(7), 686 - 699. doi:10.1016/S1474-4422(14)70065-1
    • Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, the United Kingdom Brain Expression Consortium , Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J (2014). Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease.. PLoS One, 9(6), e94661 - . doi:10.1371/journal.pone.0094661
    • Sassi C, Guerreiro R, Gibbs R, Bras J, Hardy J, Ding J, Singleton A, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Powell JF, Brown KS, Medway C, Lord J, Turton J, Morgan K, Mann D, Snowden J, Neary D, Harris J (2014). Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2014.04.026
    • Thompson PM, Hibar DP, Jahanshad N, Bowman IJ, Ching CRK, Dong H, Leonardo CD, Toga AW, Montgomery GW, Strike L, Lee PH, Smoller JW, Vasquez AA, Franke B, Bralten J, Brunner HG, Hoogman M, Buitelaar J, Fisher SE, Francks C, Rijpkema M, Zwiers MP, Toro R, Glahn DC, Li C-S, Sprooten E, Winkler AM, Appel K, Grabe HJ, Pearlson GD, Andreassen OA, Christoforou A, Djurovic S, Espeseth T, Haukvik UK, Le Hellard S, Mattingsdal M, Melle I, Steen VM, Westlye LT, Alhusaini S, Cavalleri GL, Whelan CD, Almasy L, Blangero J, Carless MA, Curran JE, Duggirala R, Dyer TD, Göring HHH, Moses EK, Peterson CP, Andreasen NC, Ho B-C, Apostolova LG, Coppola G, Aribisala B, Bastin ME, Booth T, Deary IJ, Liewald DC, Lopez LM, Luciano M, Muñoz Maniega S, Royle NA, Starr JM, Valdés Hernández MC, Wardlaw JM, Binder EB, Czisch M, Hoehn D, Müller-Myhsok B, Pütz B, Sämann PG, Wolf C, Calhoun VD, Shoemaker JM, Turner J, Boomsma DI, de Geus EJC, den Braber A, Fedko I, Hottenga J-J, van 't Ent D, Fernández G, Brouwer RM, Hulshoff Pol HE, Kahn RS, Mandl R, Ophoff RA, Schnack HG, Schür R, Van den Heuvel M, van Haren NEM, Buckner RL, Fagerness J, Bulayeva K, Bustillo JR, Cannon DM, Donohoe G, Emsell L, McDonald C, Scanlon C, Cantor RM, Fears S, Chakravarty MM, Giddaluru S, Mühleisen TW, Cichon S, Crespo-Facorro B, Roiz-Santiañez R, Tordesillas-Gutierrez D, Depondt C, Pandolfo M, de Zubicaray GI, Kelly S, Morris DW, Ehrlich S, Gollub RL, Hollinshead M, Holmes AJ, Manoach DS, Hass J, Erk S, Heinz A, Mohnke S, Romanczuk-Seiferth N, Walter H, Guadalupe T, Fox PT, Frouin V, Roffman JL, Wittfeld K, Grimm O, Meyer-Lindenberg A, Rietschel M, Gruber O, Krämer B, Trost S, Zilles D, Bois C, Dimitrova R, Hagenaars S, Hall J, Lawrie SM, McIntosh AM, Papalampropoulou-Tsiridou M, Papmeyer M, Sussmann J, Whalley HC, Hardy J, Ryten M, Trabzuni D, Hegenscheid K, Hosten N, Hartman CA, Hoekstra PJ, Homuth G, Teumer A, Johnston C, Agartz I, Ekman CJ, Jönsson EG, Liberg B, Kasperaviciute D, Matarin M, Sisodiya SM, Shen L, Kim S, Nho K, Risacher SL, Saykin AJ, Hong LE, Kochunov P, Brohawn DG, Liu X, McMahon FJ, Woldehawariat G, Schumann G, Delvecchio G, Dima D, Loth E, Macciardi F, Potkin SG, Rasmussen J, van Erp TGM, Mather KA, Sachdev PS, Wen W, Mattheisen M, McMahon KL, Meisenzahl E, Penninx BW, Schmaal L, Veltman DJ, Mueller BA, Schulz SC, Sponheim SR, Nilsson L-G, Nyberg L, Salami A, Olvera RL, Paus T, Pausova Z, van der Wee NJ, Ramasamy A, Weale ME, Savitz J, Foroud T, Seidman L, Simmons A, van Tol M-J, Völzke H, Weiner MW, White T, Jenkinson M, Kwok JBJ, Schofield PR, Hatton SN, Hickie IB, Lagopoulos J, Walker R, Smith C, de Haan L, Koenders L, Machielsen MWJ, Milaneschi Y, Schork AJ, Oosterlaan J, Almeida J, Phillips M, Versace A, Alda M, Hajek T, Godlewska B, Mwangi B, Soares JC, Bearden CE, Bauer M, Pfennig A, Frangou S, Strakowski S, Gur RE, Gur RC, Satterthwaite TD, Frey EM, Frodl T, Hall GB, Clark VP, Bøen E, Elvsåshagen T, Malt UF, Bergmann Ø, Pike GB, Nichols TE, Alpert K, Wang L, Landman BA, Nugent AC, Nauck M, Landen M, Laje G, MacQueen GM, Caseras X, Hwang KS, Conrod P, Lemaître H, Martinot J-L, van Eijk K, Armstrong NJ, Lourdusamy A, Chang KD, Poline J-B, Lauriello J, Jack Jr CR, Rose EJ, Goldstein RZ, Rujescu D, Bockholt HJ, Stein JL, Medland SE, Renteria ME, Martin NG, Wright MJ, Garavan H, Thalamuthu A, Freimer NB, Lawrence NS, Drevets W (2014). The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior, 8(2), 153 - 182. doi:10.1007/s11682-013-9269-5
    • Karran E, Hardy J (2014). A Critique of the Drug Discovery and Phase 3 Clinical Programmes targeting the Amyloid Hypothesis for Alzheimer's disease.. Ann Neurol, , - . doi:10.1002/ana.24188
    • Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H, for the United Kingdom Brain Expression Consortium (2014). Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia.. JAMA Neurol, , - . doi:10.1001/jamaneurol.2014.756
    • Johnson JO, Renton AE, Pliner HA, Marangi G, Traynor BJ, Pioro EP, Boehringer A, Bowser R, Chia R, Abramzon Y, Cookson MR, Feit H, Winborn BJ, Taylor JP, Gibbs JR, Morgan S, Shoai M, Hardy J, Pittman A, Sidle KC, Nalls MA, Singleton AB, Orrell RW, Malaspina A, Fratta P, Harms MB, Pestronk A, Weihl CC, Baloh RH, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Chiò A, Rothstein JD, Drepper C, Sendtner M, Restagno G, Sabatelli M (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience, 17(5), 664 - 666. doi:10.1038/nn.3688
    • Guerreiro R, Brás J, Hardy J, Singleton A (2014). Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.. Hum Mol Genet, , - . doi:10.1093/hmg/ddu203
    • Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M (2014). Novel CLN3 mutation causing autophagic vacuolar myopathy.. Neurology, , - . doi:10.1212/WNL.0000000000000490
    • Tucci A, Liu Y-T, Preza E, Pitceathly RDS, Trabzuni D, Ryten M, Reilly MM, Hardy J, Abramov AY, Houlden H, Chalasani A, Land JM, Hargreaves I, Plagnol V, Jaunmuktane Z, Brandner S, Singleton AB (2014). Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 85(5), 486 - 492. doi:10.1136/jnnp-2013-306387
    • Berg D, Gasser T, Postuma RB, Bloem B, Chan P, Dubois B, Goetz CG, Halliday GM, Hardy J, Lang AE, Litvan I, Marek K, Obeso J, Oertel W, Olanow CW, Poewe W, Stern M, Deuschl G (2014). Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Movement Disorders, 29(4), 454 - 462. doi:10.1002/mds.25844
    • Wiethoff S, Bettencourt C, Hardy J, Houlden H, Xiromerisiou G, Tsiptsios I, Tychalas A, Evaggelia M, Kioumi A, George K, Makris V (2014). Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. Journal of the Neurological Sciences, 339(1-2), 220 - 222. doi:10.1016/j.jns.2014.01.034
    • Beilina A, Rudenko IN, Kaganovich A, Civiero L, Chau H, Kalia SK, Kalia LV, Lobbestael E, Chia R, Ndukwe K, Ding J, Nalls MA, International Parkinson’s Disease Genomics Consortium , North American Brain Expression Consortium , Olszewski M, Hauser DN, Kumaran R, Lozano AM, Baekelandt V, Greene LE, Taymans JM, Greggio E, Cookson MR (2014). Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease.. Proc Natl Acad Sci U S A, 111(7), 2626 - 2631. doi:10.1073/pnas.1318306111
    • Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ, NHLBI Grand Opportunity Exome Sequencing Project (2014). Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.. Am J Hum Genet, 94(2), 233 - 245. doi:10.1016/j.ajhg.2014.01.010
    • Hardy J, Zetterberg H, Bogdanovic N, Winblad B, Andreasen N, Cedazo-Minguez A, Portelius E (2014). Pathways to Alzheimer's disease. Journal of Internal Medicine, 275(3), 296 - 303. doi:10.1111/joim.12192
    • Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.. Nat Neurosci, , - . doi:10.1038/nn.3688
    • Ling H, Kara E, Revesz T, Lees AJ, Plant GT, Martino D, Houlden H, Hardy J, Holton JL (2014). Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.. Acta Neuropathol Commun, 2(1), 24 - . doi:10.1186/2051-5960-2-24
    • Berg D, Gasser T, Postuma RB, Bloem B, Chan P, Dubois B, Goetz CG, Halliday GM, Hardy J, Lang AE, Litvan I, Marek K, Obeso J, Oertel W, Olanow CW, Poewe W, Stern M, Deuschl G (2014). Time to redefine PD? Introductory statement of the MDS task force on the definition of parkinson's disease. Movement Disorders, , - . doi:10.1002/mds.25844
    • Mok KY, Trabzuni D, Hardy J, Schneider SA, Stamelou M, Edwards M, Bhatia KP, Kasperaviciute D, Pickering-Brown S, Silverdale M (2014). Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders, 29(2), 245 - 251. doi:10.1002/mds.25732
    • Andreasson U, Lautner R, Mattsson N, Wallin A, Blennow K, Zetterberg H, Schott JM, Hardy J, Hansson O, Minthon L, Herukka S-K, Helisalmi S, Ewers M, Hampel H (2014). CSF biomarkers for Alzheimer's pathology and the effect size of APOE ε4. Molecular Psychiatry, 19(2), 148 - 149. doi:10.1038/mp.2013.18
    • Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H (2014). Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.. J Neurol Sci, , - . doi:10.1016/j.jns.2014.01.034
    • Hardy J, Zetterberg H, Bogdanovic N, Winblad B, Andreasen N, Cedazo-Minguez A, Portelius E (2014). Pathways to Alzheimer's disease. Journal of Internal Medicine, , - . doi:10.1111/joim.12192
    • Ramasamy A, Weale ME, Ryten M, Trabzuni D, Hardy J, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S (2014). Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders, 3(2), 211 - 219. doi:10.1016/j.msard.2013.08.009
    • Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J, UK Brain Expression Consortium , Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R (2014). Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2014.01.010
    • Noyce AJ, Silveira-Moriyama L, Hardy J, Lees AJ, Bestwick JP, Hawkes CH, Knowles CH, Giovannoni G, Osborne C, Nageshwaran S, Schrag A (2014). PREDICT-PD: Identifying risk of Parkinson's disease in the community: Methods and baseline results. Journal of Neurology, Neurosurgery and Psychiatry, 85(1), 31 - 37. doi:10.1136/jnnp-2013-305420
    • Karran E, Hardy J (2014). Antiamyloid therapy for Alzheimer's disease--are we on the right road?. N Engl J Med, 370(4), 377 - 378. doi:10.1056/NEJMe1313943
    • Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME, Bauer M, Bearden CE, Bergmann O, Binder EB, Blangero J, Bockholt HJ, Bøen E, Bois C, Boomsma DI, Booth T, Bowman IJ, Bralten J, Brouwer RM, Brunner HG, Brohawn DG, Buckner RL, Buitelaar J, Bulayeva K, Bustillo JR, Calhoun VD, Cannon DM, Cantor RM, Carless MA, Caseras X, Cavalleri GL, Chakravarty MM, Chang KD, Ching CR, Christoforou A, Cichon S, Clark VP, Conrod P, Coppola G, Crespo-Facorro B, Curran JE, Czisch M, Deary IJ, de Geus EJ, den Braber A, Delvecchio G, Depondt C, de Haan L, de Zubicaray GI, Dima D, Dimitrova R, Djurovic S, Dong H, Donohoe G, Duggirala R, Dyer TD, Ehrlich S, Ekman CJ, Elvsåshagen T, Emsell L, Erk S, Espeseth T, Fagerness J, Fears S, Fedko I, Fernández G, Fisher SE, Foroud T, Fox PT, Francks C, Frangou S, Frey EM, Frodl T, Frouin V, Garavan H, Giddaluru S, Glahn DC, Godlewska B, Goldstein RZ, Gollub RL, Grabe HJ, Grimm O, Gruber O, Guadalupe T, Gur RE, Gur RC, Göring HH, Hagenaars S, Hajek T, Hall GB, Hall J, Hardy J, Hartman CA, Hass J, Hatton SN, Haukvik UK, Hegenscheid K, Heinz A, Hickie IB, Ho BC, Hoehn D, Hoekstra PJ, Hollinshead M, Holmes AJ, Homuth G, Hoogman M, Hong LE, Hosten N, Hottenga JJ, Hulshoff Pol HE, Hwang KS, Jack CR, Jenkinson M, Johnston C, Jönsson EG, Kahn RS, Kasperaviciute D, Kelly S, Kim S, Kochunov P, Koenders L, Krämer B, Kwok JB, Lagopoulos J, Laje G, Landen M, Landman BA, Lauriello J, Lawrie SM, Lee PH, Le Hellard S, Lemaître H, Leonardo CD, Li CS, Liberg B, Liewald DC, Liu X, Lopez LM, Loth E, Lourdusamy A, Luciano M, Macciardi F, Machielsen MW, Macqueen GM, Malt UF, Mandl R, Manoach DS, Martinot JL, Matarin M, Mather KA, Mattheisen M, Mattingsdal M, Meyer-Lindenberg A, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meisenzahl E, Melle I, Milaneschi Y, Mohnke S, Montgomery GW, Morris DW, Moses EK, Mueller BA, Muñoz Maniega S, Mühleisen TW, Müller-Myhsok B, Mwangi B, Nauck M, Nho K, Nichols TE, Nilsson LG, Nugent AC, Nyberg L, Olvera RL, Oosterlaan J, Ophoff RA, Pandolfo M, Papalampropoulou-Tsiridou M, Papmeyer M, Paus T, Pausova Z, Pearlson GD, Penninx BW, Peterson CP, Pfennig A, Phillips M, Pike GB, Poline JB, Potkin SG, Pütz B, Ramasamy A, Rasmussen J, Rietschel M, Rijpkema M, Risacher SL, Roffman JL, Roiz-Santiañez R, Romanczuk-Seiferth N, Rose EJ, Royle NA, Rujescu D, Ryten M, Sachdev PS, Salami A, Satterthwaite TD, Savitz J, Saykin AJ, Scanlon C, Schmaal L, Schnack HG, Schork AJ, Schulz SC, Schür R, Seidman L, Shen L, Shoemaker JM, Simmons A, Sisodiya SM, Smith C, Smoller JW, Soares JC, Sponheim SR, Sprooten E, Starr JM, Steen VM, Strakowski S, Strike L, Sussmann J, Sämann PG, Teumer A, Toga AW, Tordesillas-Gutierrez D, Trabzuni D, Trost S, Turner J, Van den Heuvel M, van der Wee NJ, van Eijk K, van Erp TG, van Haren NE, van 't Ent D, van Tol MJ, Valdés Hernández MC, Veltman DJ, Versace A, Völzke H, Walker R, Walter H, Wang L, Wardlaw JM, Weale ME, Weiner MW, Wen W, Westlye LT, Whalley HC, Whelan CD, White T, Winkler AM, Wittfeld K, Woldehawariat G, Wolf C, Zilles D, Zwiers MP, Thalamuthu A, Schofield PR, Freimer NB, Lawrence NS, Drevets W, the Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group (2014). The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.. Brain Imaging Behav, , - . doi:10.1007/s11682-013-9269-5
    • Ferrari R, Momeni P, Mok K, Hardy J, Kero M, Paetau A, Tynninen O, Myllykangas L, Tienari PJ, Verkkoniemi-Ahola A (2014). A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of Aging, 35(2), - . doi:10.1016/j.neurobiolaging.2013.08.021
    • Kara E, Bras J, Wood NW, Hardy J, Houlden H, Hernandez D, Xiromerisiou G, Dardiotis E, Ralli S, Hadjigeorgiou GM, Spanaki C, Plaitakis A, Bozi M, Stefanis L, Koutsis G, Panas M, Letson C, Edsall C, Pliner H, Arepalli S, Keller MF, Nalls MA, Singleton AB, Kalinderi K, Fidani L, Bostantjopoulou S (2014). Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging, 35(2), - . doi:10.1016/j.neurobiolaging.2013.07.011
    • Beck J, Adamson G, Campbell T, Uphill J, Poulter M, Collinge J, Mead S, Pittman A, Houlden H, Shoai M, Hardy J, Kenny J, Rohrer JD, Mummery CJ, Warren JD, Schott JM, Fox NC, Rossor MN, de Silva R (2014). Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of Aging, 35(1), 261 - 265. doi:10.1016/j.neurobiolaging.2013.07.017
    • Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, Kofler JK, Mash DC, Duque L, Gilbert JR, Gwirtsman H, Buxbaum JD, Kramer P, Dickson DW, Farrer LA, Frosch MP, Ghetti B, Haines JL, Hyman BT, Kukull WA, Mayeux RP, Pericak-Vance MA, Schneider JA, Trojanowski JQ, Reiman EM, Alzheimer's Disease Genetics Consortium (ADGC) , Schellenberg GD, Montine TJ (2014). Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias.. PLoS Genet, 10(9), e1004606 - . doi:10.1371/journal.pgen.1004606

    2013

    • Bartolome F, Wu H-C, Burchell VS, Preza E, Wray S, Houlden H, Hardy J, Abramov AY, Plun-Favreau H, Mahoney CJ, Fox NC, Orrell RW, Calvo A, Canosa A, Moglia C, Chiò A, Mandrioli J (2013). Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron, 78(1), 57 - 64. doi:10.1016/j.neuron.2013.02.028
    • Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, Slooter AJ, Szolnoki Z, Sandhu M, Wareham N, Frikke-Schmidt R, Tybjærg-Hansen A, Fillenbaum G, Heijmans BT, Katsuya T, Gromadzka G, Singleton A, Ferrucci L, Hardy J, Worrall B, Rich SS, Matarin M, Whittaker J, Gaunt TR, Whincup P, Morris R, Deanfield J, Donald A, Davey Smith G, Kivimaki M, Kumari M, Smeeth L, Khaw KT, Nalls M, Meschia J, Sun K, Hui R, Day I, Hingorani AD, Casas JP (2013). Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals.. Int J Epidemiol, 42(2), 475 - 492. doi:10.1093/ije/dyt034
    • Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, Abramov AY, Plun-Favreau H (2013). Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.. Neuron, 78(1), 57 - 64. doi:10.1016/j.neuron.2013.02.028
    • Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP (2013). Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). CURRENT NEUROPHARMACOLOGY, 11(1), 59 - 79.
    • Holton P, Ryten M, Trabzuni D, Hernandez D, Crehan H, Gibbs JR, Hardy J, Guerreiro R, Nalls M, Dillman A, Cookson MR, Singleton A, Weale ME, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Reiman EM (2013). Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci. Annals of Human Genetics, 77(2), 85 - 105. doi:10.1111/ahg.12000
    • Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR, NABEC , Hardy J, UKBEC , Ryten M, Weale ME (2013). Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.. Nucleic Acids Res, 41(7), e88 - . doi:10.1093/nar/gkt069
    • Lashley T, Hardy J, Isaacs AM (2013). RANTing about C9orf72.. Neuron, 77(4), 597 - 598. doi:10.1016/j.neuron.2013.02.009
    • Crehan H, Hardy J, Pocock J (2013). Blockage of CR1 prevents activation of rodent microglia.. Neurobiol Dis, 54, 139 - 149. doi:10.1016/j.nbd.2013.02.003
    • Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S (2013). Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.. Am J Hum Genet, 92(3), 345 - 353. doi:10.1016/j.ajhg.2013.01.011
    • Duran R, Mencacci NE, Shoai M, Deas E, Houlden H, Lees AJ, Wood NW, Hardy J, Angeli AV, Limousin P, Jarman PR, Bhatia KP, Foltynie T, Schapira AH, Mehta A, Hughes D, Cox TM, Deegan P (2013). The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders, 28(2), 232 - 236. doi:10.1002/mds.25248
    • Holmans P, Moskvina V, Jones L, Sharma M, International Parkinson's Disease Genomics Consortium , Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM (2013). A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.. Hum Mol Genet, 22(5), 1039 - 1049. doi:10.1093/hmg/dds492
    • Kiely AP, Asi YT, Ling H, Lees AJ, Hardy J, Revesz T, Holton JL, Kara E, Lewis P, Houlden H, Limousin P, Proukakis C, Quinn N (2013). α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?. Acta Neuropathologica, , 1 - 17. doi:10.1007/s00401-013-1096-7
    • Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (2013). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.. Ann Neurol, 73(4), 546 - 553. doi:10.1002/ana.23832
    • Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J (2013). Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.. JAMA Neurol, 70(1), 78 - 84. doi:10.1001/jamaneurol.2013.579
    • Tucci A, Kara E, Fawcett K, Lo C-N, Shorvon S, Hardy J, Zschocke J, Houlden H, Schossig A, Wimmer K, Wolf NI, Plagnol V, Paisán-Ruiz C, Moore M, Hernandez D, Singleton A, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Mefford H, Eichler EE, Hall R, Hayes I (2013). Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation, 34(2), 296 - 300. doi:10.1002/humu.22241
    • Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Alzheimer's Disease Genetics Consortium , Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R (2013). Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.. Ann Hum Genet, 77(2), 85 - 105. doi:10.1111/ahg.12000
    • Scahill RI, Ridgway GR, Barnes J, Ryan NS, Clarkson MJ, Foster J, Crutch SJ, Schott JM, Ourselin S, Warren JD, Hardy J, Rossor MN, Fox NC (2013). Genetic influences on atrophy patterns in familial AD: a comparason of APP and PSEN-1 mutations. Journal of AD, 35, 199 - 212. doi:10.3233/JAD-121255
    • Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J, Alzheimer Genetic Analysis G (2013). TREM2 variants in Alzheimer's disease. N Engl J Med, 368, 117 - 127. doi:10.1056/NEJMoa1211851
    • Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Traynor BJ, Singleton AB, Cookson MR, Trabzuni D, Ryten M, Hardy J, Walker R, Smith C (2013). Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of Aging, 34(4), 1199 - 1209. doi:10.1016/j.neurobiolaging.2012.10.021
    • Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J, Alzheimer Genetic Analysis Group (2013). TREM2 variants in Alzheimer's disease.. N Engl J Med, 368(2), 117 - 127. doi:10.1056/NEJMoa1211851
    • Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MR (2013). Age-associated changes in gene expression in human brain and isolated neurons.. Neurobiol Aging, 34(4), 1199 - 1209. doi:10.1016/j.neurobiolaging.2012.10.021
    • Cleeter MW, Chau KY, Gluck C, Mehta A, Hughes DA, Duchen M, Wood NW, Hardy J, Mark Cooper J, Schapira AH (2013). Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage.. Neurochem Int, 62(1), 1 - 7. doi:10.1016/j.neuint.2012.10.010
    • Xiromerisiou G, Dardiotis E, Tsironi EE, Hadjigeorgiou G, Ralli S, Kara E, Petalas A, Tachmitzi S, Hardy J, Houlden H (2013). THAP1 mutations in a Greek primary blepharospasm series.. Parkinsonism Relat Disord, 19(3), 404 - 405. doi:10.1016/j.parkreldis.2012.08.015
    • Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H (2013). Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.. Hum Mutat, 34(2), 296 - 300. doi:10.1002/humu.22241
    • Liu G, Yao L, Liu J, Jiang Y, Ma G, the Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium , Chen Z, Zhao B, Li K (2013). Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2013.10.084
    • Holmans P, Moskvina V, Jones L, Sharma M, The International Parkinson's Disease Genomics Consortium (IPDGC) , Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood NW, Martinez M, Singleton AB, Nalls MA, Hardy J, Morris HR, Williams NM (2013). A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.. Hum Mol Genet, , - . doi:10.1093/hmg/ddt554
    • Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, Hardy J, Martinez M, Singleton AB, for the International Parkinson's Disease Genomics Consortium (IPDGC) , The Wellcome Trust Case Control Consortium 2 (WTCCC2) , North American Brain Expression Consortium (NABEC) , the United Kingdom Brain Expression Consortium (UKBEC) (2013). Genetic comorbidities in Parkinson's disease.. Hum Mol Genet, , - . doi:10.1093/hmg/ddt465
    • Mok KY, Jones EL, Hanney M, Harold D, Sims R, Williams J, Ballard C, Hardy J (2013). Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2013.12.022
    • Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, Bellenguez C, Brown K, Medway C, Haddick PC, van der Brug MP, Bhangale T, Ortmann W, Behrens T, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Haines JL, Turton J, Braae A, Barber I, Fagan AM, Holtzman DM, Morris JC, The 3C Study Group, the EADI consortium, the Alzheimer's Disease Genetic Consortium (ADGC), Alzheimer's Disease Neuroimaging Initiative (ADNI), the GERAD Consortium , Williams J, Kauwe JS, Amouyel P, Morgan K, Singleton A, Hardy J, Goate AM, Cruchaga C (2013). Missense variant in TREML2 protects against Alzheimer's disease.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2013.12.010
    • Guerreiro R, Hardy J (2013). TREM2 and neurodegenerative disease.. N Engl J Med, 369(16), 1569 - 1570.
    • Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Hollingworth P, Ramirez A, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F, European Alzheimer's Disease Initiative (EADI) , Genetic and Environmental Risk in Alzheimer's Disease (GERAD) , Alzheimer's Disease Genetic Consortium (ADGC) , Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) , Moebus S, Mecocci P, Del Zompo M, Maier W, Hampel H, Pilotto A, Bullido M, Panza F, Caffarra P, Nacmias B, Gilbert JR, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Wang LS, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Jones L, Haines JL, Holmans PA, Lathrop M, Pericak-Vance MA, Launer LJ, Farrer LA, van Duijn CM, Van Broeckhoven C, Moskvina V, Seshadri S, Williams J, Schellenberg GD, Amouyel P (2013). Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.. Nat Genet, , - . doi:10.1038/ng.2802
    • Udayar V, Buggia-Prévot V, Guerreiro RL, Siegel G, Rambabu N, Soohoo AL, Ponnusamy M, Siegenthaler B, Bali J, AESG , Simons M, Ries J, Puthenveedu MA, Hardy J, Thinakaran G, Rajendran L (2013). A Paired RNAi and RabGAP Overexpression Screen Identifies Rab11 as a Regulator of β-Amyloid Production.. Cell Rep, 5(6), 1536 - 1551. doi:10.1016/j.celrep.2013.12.005
    • Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, UK Brain Expression Consortium (UKBEC) , Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K, The Alzheimer’s Research UK (ARUK) Consortium , Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM (2013). Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.. Nature, , - . doi:10.1038/nature12825
    • Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A, for the French Clinical and Genetic Research Network on FTD/FTD-ALS (2013). SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis.. JAMA Neurol, , - . doi:10.1001/jamaneurol.2013.3849
    • Manzoni C, Mamais A, Dihanich S, Devine MJ, Kara E, Plun-Favreau H, Hardy J, Bandopadhyay R, Lewis PA, McGoldrick P, Zerle J, Taanman J-W, Schapira AH, Healy DG, Marti-Masso J-F, Tooze S (2013). Pathogenic parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochemical and Biophysical Research Communications, 441(4), 862 - 866. doi:10.1016/j.bbrc.2013.10.159
    • Ramasamy A, Weale ME, Ryten M, Trabzuni D, Hardy J, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S (2013). Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders, , - . doi:10.1016/j.msard.2013.08.009
    • Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM (2013). Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.. J Neurol Neurosurg Psychiatry, , - . doi:10.1136/jnnp-2013-306761
    • Mok K, Gurunlian N, Hardy J, Orrell RW, Laaksovirta H, Tienari PJ, Peuralinna T, Traynor BJ, Nalls MA, Myllykangas L, Chiò A, Shatunov A, Shaw CE, Al-Chalabi A, Restagno G, Mora G, Nigel Leigh P, Morrison KE, Shaw PJ (2013). Homozygosity analysis in amyotrophic lateral sclerosis. European Journal of Human Genetics, 21(12), 1429 - 1435. doi:10.1038/ejhg.2013.59
    • Hardy J, Rogaeva E (2013). Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.. Exp Neurol, , - . doi:10.1016/j.expneurol.2013.11.006
    • Trabzuni D, Ramasamy A, Imran S, Walker R, Smith C, Weale ME, Hardy J, Ryten M, North American Brain Expression Consortium (2013). Widespread sex differences in gene expression and splicing in the adult human brain.. Nat Commun, 4, 2771 - . doi:10.1038/ncomms3771
    • Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL (2013). α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?. Acta neuropathologica, 125(5), 753 - 769. doi:10.1007/s00401-013-1096-7
    • Guerreiro R, Brás J, Hardy J (2013). SnapShot: Genetics of Alzheimer's Disease.. Cell, 155(4), 968 - 968.e1. doi:10.1016/j.cell.2013.10.037
    • Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, on behalf of UKBEC , Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H (2013). Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.. J Neurol Neurosurg Psychiatry, , - . doi:10.1136/jnnp-2013-306387
    • Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP (2013). Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.. Mov Disord, , - . doi:10.1002/mds.25732
    • Manzoni C, Mamais A, Dihanich S, McGoldrick P, Devine MJ, Zerle J, Kara E, Taanman JW, Healy DG, Marti-Masso JF, Schapira A, Plun-Favreau H, Tooze S, Hardy J, Bandopadhyay R, Lewis PA (2013). Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.. Biochem Biophys Res Commun, , - . doi:10.1016/j.bbrc.2013.10.159
    • Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, Guerreiro R, Hernandez D, Brice A, Stefánsson H, Majamaa K, Gasser T, Heutink P, Wood N, Martinez M, Singleton AB, Nalls MA, Hardy J, Owen MJ, O'Donovan MC, Williams J, Morris HR, Williams NM (2013). Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk.. JAMA Neurol, , - . doi:10.1001/jamaneurol.2013.448
    • Guerreiro R, Hardy J (2013). Drs. Kuerreiro and Hardy reply. New England Journal of Medicine, 369(16), 1569 - 1570. doi:10.1056/NEJMc1306509
    • Mann DMA, Hardy J (2013). Amyloid or tau: the chicken or the egg?. ACTA NEUROPATHOLOGICA, 126(4), 609 - 613. doi:10.1007/s00401-013-1162-1
    • Doherty KM, Moriyama LS, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL (2013). Parkin disease-a clinicopathological entity?. J Neurol Neurosurg Psychiatry, 84(11), e2 - . doi:10.1136/jnnp-2013-306573.13
    • Warren JD, Rohrer JD, Schott JM, Fox NC, Rossor MN, Hardy J (2013). Molecular nexopathies: A new paradigm of neurodegenerative disease. Trends in Neurosciences, 36(10), 561 - 569. doi:10.1016/j.tins.2013.06.007
    • Ferrari R, Kero M, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L (2013). A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma.. Neurobiol Aging, , - . doi:10.1016/j.neurobiolaging.2013.08.021
    • Kara E, Bras J, Wood NW, Hardy J, Houlden H, Hernandez D, Xiromerisiou G, Dardiotis E, Ralli S, Hadjigeorgiou GM, Spanaki C, Plaitakis A, Bozi M, Stefanis L, Koutsis G, Panas M, Letson C, Edsall C, Pliner H, Arepalli S, Keller MF, Nalls MA, Singleton AB, Kalinderi K, Fidani L, Bostantjopoulou S (2013). Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2013.07.011
    • Forabosco P, Ramasamy A, Trabzuni D, Bras J, Hardy J, Guerreiro R, Ryten M, Weale ME, Walker R, Smith C, Levine AP, Pocock JM (2013). Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging, 34(12), 2699 - 2714. doi:10.1016/j.neurobiolaging.2013.05.001
    • Noyce AJ, Bestwick JP, Silveira-Moriyama L, Hawkes CH, Knowles C, Hardy J, Giovannoni G, Nageshwaran S, Osborne C, Lees AJ, Schrag A (2013). PREDICT-PD study: Online screening algorithm identifying Parkinson's disease risk. MOVEMENT DISORDERS, 28, S389 - S389.
    • Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2013). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.. Nat Genet, 45(6), 712 - . doi:10.1038/ng0613-712a
    • Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees A, Hardy J, Revesz T, Houlden H, Holton JL (2013). Clinical and neuropathological features of synucleinopathy associated with G51D SNCA mutation. MOVEMENT DISORDERS, 28, S277 - S277.
    • Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simon-Sanchez J, Mittag F, Buechel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefansson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA, IPDGC , WTCCC2 (2013). Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinsons disease (vol 22, pg 1696, 2013). HUMAN MOLECULAR GENETICS, 22(14), 2973 - 2973. doi:10.1093/hmg/ddt199
    • Hardy J (2013). The ignoble art. NEW SCIENTIST, 219(2929), 26 - 27.
    • Burchell VS, Delgado-Camprubi M, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Plun-Favreau H, Nelson DE, Randle SJ, Laman H, Sanchez-Martinez A, Ivatt RM, Pogson JH, Whitworth AJ (2013). The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience, 16(9), 1257 - 1265. doi:10.1038/nn.3489
    • Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, International Parkinson Disease Genomics Consortium (IPDGC) , Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V (2013). Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated LRRK2 Locus.. PLoS One, 8(8), e70724 - . doi:10.1371/journal.pone.0070724
    • Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H, Plun-Favreau H (2013). The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.. Nat Neurosci, , - . doi:10.1038/nn.3489
    • Kara E, Hardy J, Houlden H (2013). The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology, 26(4), 381 - 394. doi:10.1097/WCO.0b013e3283632e83
    • Jenner P, Morris HR, Robbins TW, Goedert M, Hardy J, Ben-Shlomo Y, Bolam P, Burn D, Hindle JV, Brooks D, Grp PUKD (2013). Parkinson's Disease - the Debate on the Clinical Phenomenology, Aetiology, Pathology and Pathogenesis. JOURNAL OF PARKINSONS DISEASE, 3(1), 1 - 11. doi:10.3233/JPD-130175
    • Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H (2013). Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.. J Neurol, , - . doi:10.1007/s00415-013-7044-6
    • Forabosco P, Ramasamy A, Trabzuni D, Bras J, Hardy J, Guerreiro R, Ryten M, Weale ME, Walker R, Smith C, Levine AP, Pocock JM (2013). Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2013.05.001
    • Noyce AJ, Bestwick JP, Silveira-Moriyama L, Hawkes CH, Knowles CH, Hardy J, Giovannoni G, Nageshwaran S, Osborne C, Lees AJ, Schrag A (2013). PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results.. J Neurol Neurosurg Psychiatry, , - . doi:10.1136/jnnp-2013-305420
    • Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL (2013). Parkin disease: a clinicopathologic entity?. JAMA Neurol, 70(5), 571 - 579. doi:10.1001/jamaneurol.2013.172
    • Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H (2013). Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.. JAMA Neurol, 70(7), 875 - 882. doi:10.1001/jamaneurol.2013.698
    • Kara E, Hardy J, Houlden H (2013). The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology, , - .
    • Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH, Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy DL, Wendland JR, Veenstra-Vanderweele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceição do Rosário M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M, Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A, North American Brain Expression Consortium , Arepalli S, Cookson MR, Dillman A, Ferrucci L, Gibbs JR, Hernandez DG, Johnson R, Longo DL, Nalls MA, O Brien R, Singleton A, Traynor B, Troncoso J, van der Brug M, Zielke HR, Zonderman A, Hardy J, UK Brain Expression Database , Hardy JA, Ryten M, Smith C, Trabzuni D, Walker R, Weale M, Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N, Pauls DL (2013). Genome-wide association study of obsessive-compulsive disorder.. Mol Psychiatry, 18(7), 788 - 798. doi:10.1038/mp.2012.85
    • Angeli A, Mencacci NE, Duran R, Aviles-Olmos I, Kefalopoulou Z, Candelario J, Rusbridge S, Foley J, Pradhan P, Jahanshahi M, Zrinzo L, Hariz M, Wood NW, Hardy J, Limousin P, Foltynie T (2013). Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders, , - .
    • Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrio GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL, Expression NAB, Database UKHBE (2013). Genome-wide association study of Tourette's syndrome. MOLECULAR PSYCHIATRY, 18(6), 721 - 728. doi:10.1038/mp.2012.69
    • Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DMA, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin U-M, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E (2013). A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurology, 70(6), 727 - 735.
    • Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P (2013). Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.. Brain, , - . doi:10.1093/brain/awt095
    • Pittman A, Hardy J (2013). Genetic analysis in neurology: The next 10 years. JAMA Neurology, 70(6), 696 - 702.
    • Hardy J (2013). Psychiatric genetics: Are we there yet?. JAMA Psychiatry, 70(6), 569 - 570.
    • Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J (2013). α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters, 546, 67 - 70.
    • Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (2013). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology, 73(4), 546 - 553.
    • Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL (2013). Parkin disease: A clinicopathologic entity?. JAMA Neurology, 70(5), 571 - 579.
    • Klebe S, Lesage S, Durr A, Charbonnier-Beaupel F, Tahiri K, Brice A, Corvol JC, Vidailhet M, Golmard JL, Nalls MA, Singleton AB, Simon-Sanchez J, Hernandez DG, Arepalli S, Brooks J, Chong S, Cookson MR, Dillman A, Gibbs R, Moore M, Traynor BJ, Saad M, Martinez M, Bras JM, Hardy J, Sheerin U-M, Charlesworth G, Gardner M, Guerreiro R, Ryten M, De Silva R, Trabzuni D, Vandrovcova J, Wood NW, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lorenz D, Deuschl G, Durif F, Pollak P, Krack P, Damier P, Tison F, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Agid Y, Bonnet A-M, Anheim M, Lohmann E, Borg M, Broussolle E, Corvol J-C, Damier P, Destée A, Penet C, Rascol O, Tranchant C, Vérin M, Viallet F, Plagnol V, Sharma M, Bochdanovits Z, Rizzu P, Schulte C, Berg D, Brockmann K, Huber H, Marie V, Sveinbjörnsdóttir S, Band G, Vukcevic D, Bellinguez C, Freeman C, Hellenthal G, Pearson R, Pirinen M, Spencer CCA, Strange A, Su Z, Barker RA, Williams-Gray CH, Ben-Shlomo Y, Berendse HW, Van Dijk KD, Bhatia K, De Bie RMA, Velseboer D, Biffi A, Bloem B, Post B, Van De Warrenburg B, Bonin M, Pétursson H, Riess O, Burn DJ, Chen H, Gao J, Chinnery PF, Hudson G, Clarke CE, Moorby C, Morrison KE, Stockton JD, Cooper JM, McNeill A, Schapira A, Counsell C, Harris C, Dartigues JF, Deloukas P, Edkins S, Gray E, Hunt SE, Tashakkori-Ghanbaria A, Dexter DT, Evans JR, Langford C, Foltynie T, Goate A, Perlmutter JS, Gústafsson O, Huttenlocher J, Stefánsson H, Steinberg S, Stefánsson K, Van Hilten JJ, Hofman A, Rivadeneira F, Uitterlinden AG, Hollenbeck A, Holton J, Lees A, O'Sullivan SS, Revesz T, Shaw K, Hu M, Huang X, Illig T, Jónsson PV, Lichtner P, Limousin P, Lopez G, Sidransky E, Morris H, Pearson J, Williams N, Mudanohwo E, Ravina B, Sawcer S, Scheffer H, Shoulson I, Smith C, Walker R, Talbot K, Tanner CM, Weale ME, Wickremaratchi M, Winder-Rhodes S (2013). The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery and Psychiatry, 84(6), 666 - 673. doi:10.1136/jnnp-2012-304475
    • Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simon-Sanchez J, Mittag F, Buechel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefansson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA, IPDGC , WTCCC2 (2013). Using genome-wide complex trait analysis to quantify missing heritability in Parkinsons disease (vol 21, pg 4996, 2012). HUMAN MOLECULAR GENETICS, 22(8), 1696 - 1696. doi:10.1093/hmg/ddt030
    • Doherty KM, Hardy J (2013). Parkin disease and the Lewy body conundrum.. Mov Disord, 28(6), 702 - 704. doi:10.1002/mds.25486
    • Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF (2013). Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease.. Neurology, 80(22), 2042 - 2048. doi:10.1212/WNL.0b013e318294b434
    • Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J (2013). α-Synuclein mutations cluster around a putative protein loop.. Neurosci Lett, 546, 67 - 70. doi:10.1016/j.neulet.2013.04.058
    • Ling H, Kara E, Bandopadhyay R, Hardy J, Holton J, Xiromerisiou G, Lees A, Houlden H, Revesz T (2013). TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiology of Aging, , - . doi:10.1016/j.neurobiolaging.2013.04.011
    • Hardy J (2013). Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders, 28(4), 561 - 562. doi:10.1002/mds.25415
    • Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, Holton JL (2013). Parkin disease - a clinicopathological entity?.
    • Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL (2013). Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study.

    2012

    • Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T (2012). The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiology of Aging, , - .
    • Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Collinge J, Fox N, Rossor M, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, Bussche HVD, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Cruchaga C, Nowotny P, Morris JC, Mayo K, Kauwe JSK, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel K-H, Klopp N, Wichmann H-E, Carrasquillo MM, Younkin SG, Pankratz VS (2012). The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease, 28(2), 377 - 387. doi:10.3233/JAD-2011-110824
    • Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J (2012). The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.. J Alzheimers Dis, 28(2), 377 - 387. doi:10.3233/JAD-2011-110824
    • Hardy J, Revesz T (2012). The spread of neurodegenerative disease.. N Engl J Med, 366(22), 2126 - 2128. doi:10.1056/NEJMcibr1202401
    • Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H (2012). Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.. Neurobiol Aging, 33(4), 814 - 823. doi:10.1016/j.neurobiolaging.2010.05.009
    • Goate A, Hardy J (2012). Twenty years of Alzheimer's disease-causing mutations.. J Neurochem, 120 Suppl 1, 3 - 8. doi:10.1111/j.1471-4159.2011.07575.x
    • Bras J, Guerreiro R, Hardy J (2012). Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease.. Nat Rev Neurosci, 13(7), 453 - 464. doi:10.1038/nrn3271
    • Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, Wood NW, Hardy J, Singleton AB, Zell A, Gasser T, Sharma M (2012). Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities. Human Mutation, , - .
    • Kojovic M, Sheerin U, Rubio-Agusti I, Bras J, Wood N, Houlden H, Hardy J, Bhatia K (2012). Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan.
    • Patani R, Lewis PA, Trabzuni D, Puddifoot CA, Wyllie DJ, Walker R, Smith C, Hardingham GE, Weale M, Hardy J, Chandran S, Ryten M (2012). Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis.. J Neurochem, 122(4), 738 - 751. doi:10.1111/j.1471-4159.2012.07825.x
    • Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M (2012). MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.. Hum Mol Genet, 21(18), 4094 - 4103. doi:10.1093/hmg/dds238
    • Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP (2012). Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.. Neurology, 79(5), 435 - 441. doi:10.1212/WNL.0b013e318261714a
    • Duran R, Hardy J, McNeill A, Schapira AHV, Mehta A, Hughes D, Cox T, Deegan P (2012). Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism, 106(4), 495 - 497. doi:10.1016/j.ymgme.2012.05.006
    • Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J (2012). Novel pathogenic mutations in the glucocerebrosidase locus.. Mol Genet Metab, 106(4), 495 - 497. doi:10.1016/j.ymgme.2012.05.006
    • Li A, Paudel R, Johnson R, Courtney R, Lees AJ, Holton JL, Hardy J, Revesz T, Houlden H (2012). Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.. Neuropathol Appl Neurobiol, , - . doi:10.1111/j.1365-2990.2012.01269.x
    • Trabzuni D, Ryten M, Walker R, Smith C, Imran S, Ramasamy A, Weale M, Hardy J (2012). Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies (vol 119, pg 275, 2011). JOURNAL OF NEUROCHEMISTRY, 120(3), 473 - 473. doi:10.1111/j.1471-4159.2011.07602.x
    • Blennow K, Hardy J, Zetterberg H (2012). The Neuropathology and Neurobiology of Traumatic Brain Injury. NEURON, 76(5), 886 - 899. doi:10.1016/j.neuron.2012.11.021
    • Kojovic M, Sheerin UM, Rubio-Agusti I, Saha A, Bras J, Gibbons V, Palmer R, Houlden H, Hardy J, Wood NW, Bhatia KP (2012). Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.. Mov Disord, 27(14), 1827 - 1829. doi:10.1002/mds.25199
    • Polke J, Mok K, Poulter M, Lashley T, Beck J, Wood NW, Hardy J, Sweeney MG, Haworth A, Houlden H (2012). Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72.
    • Swaminathan S, Foroud T, Shen L, Kim S, Saykin AJ, Faber KM, Huentelman MJ, Corneveaux JJ, Turk M, Reiman EM, Myers AJ, Mayeux R, Hardy J (2012). Analysis of Copy Number Variation in Alzheimer's Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals. PLoS ONE, 7(12), - . doi:10.1371/journal.pone.0050640
    • Friedland RP, Shah JJ, Rebolledo-Mendez JD, Farrer LA, Vardarajan B, Mok K, Hardy J (2012). Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat. Frontiers in Neurology, OCT, - . doi:10.3389/fneur.2012.00136
    • Lescai F, Osinska J, Brooks T, Hubank M, Stupka E, Bacchelli C, Chanudet E, Beales P, Bonfiglio S, Waters A, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Hussain K, Sowden J, Kinsler V, Sisodiya SM, Kasperavičiute D, Hardy J, Houlden H, Wood N, Sheerin U, Williams J, Harold D, Kelsell D, Vulliamy T, Tonini GP, Mackay D (2012). Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes. PLoS ONE, 7(12), - . doi:10.1371/journal.pone.0051292
    • Pittman A, Mencacci N, Sheerin U, Charlesworth G, Deborah H, Haworth A, Sweeney M, Wood N, Houlden H, Hardy J, Lees A (2012). A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing.
    • Haack TB, Cuno SM, Strom TM, Meitinger T, Prokisch H, Wieland T, Schwarzmayr T, Graf E, Hogarth P, Hayflick SJ, Gregory A, Sanford L, Kruer MC, Meyer E, Kurian MA, Kara E, Hardy J, Houlden HH, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Boddaert N (2012). Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics, 91(6), 1144 - 1149. doi:10.1016/j.ajhg.2012.10.019
    • Mittag F, Büchel F, Jahn A, Zell A, Saad M, Martinez M, Schulte C, Gasser T, Sharma M, Bochdanovits Z, Simón-Sánchez J, Heutink P, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Singleton AB, Wood NW, Hardy J, Lesage S, Brice A (2012). Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities. Human Mutation, 33(12), 1708 - 1718. doi:10.1002/humu.22161
    • Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ (2012). Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.. Am J Hum Genet, 91(6), 1144 - 1149. doi:10.1016/j.ajhg.2012.10.019
    • Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, Wood NW, Hardy J, Foltynie T (2012). The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders, , - .
    • Hardy J (2012). CSF biomarking for diagnosis and treatment assessment in neurodegeneration. JOURNAL OF NEUROCHEMISTRY, 123(3), 339 - 341. doi:10.1111/j.1471-4159.2012.07928.x
    • Schottlaender LV, Mencacci N, Koepp M, Hanna M, Hardy J, Lees AJ, Houlden H (2012). Interesting clinical features associated with mutations in the SLC20A2 gene.
    • Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, Guerreiro R, Hernandez DG, Brice A, Ylikotila P, Stefánsson H, Majamaa K, Morris HR, Williams N, Gasser T, Heutink P, Wood NW, Hardy J, Martinez M, Singleton AB, Nalls MA, International Parkinson's Disease Genomics Consortium (IPDGC) , Wellcome Trust Case Control Consortium 2 (WTCCC2) (2012). Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease.. Hum Mol Genet, 21(22), 4996 - 5009. doi:10.1093/hmg/dds335
    • Mead S, Beck J, Poulter M, Rohrer J, Adamson G, Hensman D, Polke J, Campbell T, Uphill J, Borg A, Tabrizi S, Isaacs A, Hardy J, Warren J, Collinge J (2012). Large C9ORF72 hexanucleotide expansions arise spontaneously in the healthy population but can be distinguished from pathogenic mutations by Sothern Blotting.
    • Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH (2012). Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann.Neurol., 72(3), 455 - 463. doi:10.1002/ana.23614
    • Xiromerisiou G, Houlden H, Sailer A, Silveira-Moriyama L, Hardy J, Lees AJ (2012). Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders, 27(10), 1323 - 1323. doi:10.1002/mds.24924
    • Crehan H, Hardy J, Pocock J (2012). Microglia, Alzheimer's disease, and complement. International Journal of Alzheimer's Disease, , - . doi:10.1155/2012/983640
    • Guerreiro RJ, Hardy J (2012). TOMM40 association with Alzheimer disease: Tales of APOE and linkage disequilibrium. Archives of Neurology, 69(10), 1243 - 1244. doi:10.1001/archneurol.2012.1935
    • Paudel R, Hardy J, Revesz T, Holton JL, Houlden H (2012). Review: Genetics and neuropathology of primary pure dystonia. Neuropathology and Applied Neurobiology, 38(6), 520 - 534. doi:10.1111/j.1365-2990.2012.01298.x
    • Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H (2012). Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.. Neurosci Lett, 523(1), 35 - 38. doi:10.1016/j.neulet.2012.06.036
    • Xiromerisiou G, Houlden H, Kara E, Hardy J, Lees AJ, Paudel R, Stamelou M, Korlipara P, Bhatia KP, Limousin P, Hadjigeorgiou GM, Scarmeas N (2012). THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. Movement Disorders, 27(10), 1290 - 1294. doi:10.1002/mds.25146
    • Wray S, Self M, NINDS Parkinson's Disease iPSC Consortium , NINDS Huntington's Disease iPSC Consortium , NINDS ALS iPSC Consortium , Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J (2012). Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.. PLoS One, 7(8), e43099 - . doi:10.1371/journal.pone.0043099
    • Keenan BT, Shulman JM, Chibnik LB, Raj T, Tran D, Sabuncu MR, Allen AN, Corneveaux JJ, Hardy JA, Huentelman MJ, Lemere CA, Myers AJ, Nicholson-Weller A, Reiman EM, Evans DA, Bennett DA, De Jager PL, Neuroimaging AD (2012). A coding variant in CR1 interacts with APOE-?4 to influence cognitive decline. HUMAN MOLECULAR GENETICS, 21(10), 2377 - 2388. doi:10.1093/hmg/dds054
    • Noyce A, Silveira-Moriyama L, Lees AJ, Schrag A, Bestwick J, Hawkes CH, Giovannoni G, Hardy J, Knowles CH (2012). A PILOT STUDY OF AN ALGORITHM DESIGNED TO IDENTIFY PARKINSON'S DISEASE IN THE EARLY, NON-MOTOR PHASE. doi:10.1136/jnnp-2011-301993.161
    • Rogers I, Kerr F, Martinez P, Hardy J, Lovestone S, Partridge L (2012). Ageing increases vulnerability to aβ42 toxicity in Drosophila.. PLoS One, 7(7), e40569 - . doi:10.1371/journal.pone.0040569
    • Noyce A, Bestwick J, Hawkes CH, Knowles CH, Hardy J, Lees AJ, Silveira-Moriyama L, Giovannoni G, Schrag A (2012). AN ALGORITHM TO IDENTIFY INDIVIDUALS AT HIGH-RISK OF PARKINSON'S DISEASE IN THE COMMUNITY. doi:10.1136/jnnp-2011-301993.162
    • Kruer MC, Hayflick SJ, Paudel R, Kara E, Foltynie T, Lees A, Bhatia K, Hardy J, Houlden H, Wagoner W, Sanford L, Gregory A (2012). Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters, 523(1), 35 - 38. doi:10.1016/j.neulet.2012.06.036
    • Dobricic V, Stefanova E, Jankovic M, Gurunlian N, Novakovic I, Hardy J, Kostic V, Guerreiro R (2012). Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.. Neurobiol Aging, 33(7), 1481.e7 - 1481.12. doi:10.1016/j.neurobiolaging.2011.12.007
    • Paudel R, Hardy J, Revesz T, Holton JL, Houlden H (2012). Review: genetics and neuropathology of primary pure dystonia.. Neuropathol Appl Neurobiol, 38(6), 520 - 534. doi:10.1111/j.1365-2990.2012.01298.x
    • Hernandez DG, Nalls MA, Keller M, Singleton AB, Ylikotila P, Hardy JA, Majamaa K (2012). Genome wide assessment of young onset Parkinson's disease from Finland. PLoS ONE, 7(7), - . doi:10.1371/journal.pone.0041859
    • Scharf J, Yu D, Mathews C, Neale B, Stewart E, Fagerness J, Evans P, Gamazon E, Service S, Osiecki L, Illmann C, Cath D, King R, Dion Y, Sandor P, Barr C, Budman C, Lyon G, Grados M, Singer H, Jankovic J, Gilbert D, Hoekstra P, Heiman G, Tischfield J, State M, Robertson M, Kurlan R, Ophoff R, Gibbs JR, Cookson M, Hardy J, Singleton A, Ruiz-Linares A, Rouleau G, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D (2012). Genome-Wide Association Study of Gilles de la Tourette Syndrome.
    • Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simón-Sánchez J, van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J (2012). Chromosome 9 ALS and FTD locus is probably derived from a single founder.. Neurobiol Aging, 33(1), 209.e3 - 209.e8. doi:10.1016/j.neurobiolaging.2011.08.005
    • Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ (2012). Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. BRAIN, 135, 751 - 764. doi:10.1093/brain/awr365
    • Crehan H, Holton P, Wray S, Pocock J, Guerreiro R, Hardy J (2012). Complement receptor 1 (CR1) and Alzheimer's disease.. Immunobiology, 217(2), 244 - 250. doi:10.1016/j.imbio.2011.07.017
    • Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide B-MM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JPA, Bertram L, Parkinson's GE, IPDGC , Consortium PDGWAS, WTCCC2 (2012). Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLOS GENETICS, 8(3), - . doi:10.1371/journal.pgen.1002548
    • Simón-Sánchez J, Heutink P, Kilarski LL, Holmans P, Williams N, Morris HR, Nalls MA, Singleton AB, Martinez M, Schulte C, Gasser T, Hardy J, Wood NW, Brice A (2012). Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's Disease. PLoS ONE, 7(3), - . doi:10.1371/journal.pone.0028787
    • Warren JD, Rohrer JD, Hardy J (2012). Disintegrating brain networks: from syndromes to molecular nexopathies.. Neuron, 73(6), 1060 - 1062. doi:10.1016/j.neuron.2012.03.006
    • McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, Nicholl DJ, Hardy J, Revesz T, Lowe J, Rossor M, Collinge J, Mead S (2012). Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.. Neurobiol Aging, 33(2), 426.e13 - 426.e21. doi:10.1016/j.neurobiolaging.2010.10.010
    • Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Alzheimer's Disease Genetics Consortium , Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH (2012). Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.. Hum Mol Genet, 21(15), 3500 - 3512. doi:10.1093/hmg/dds161
    • Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H (2012). Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.. Neurology, 79(2), 127 - 131. doi:10.1212/WNL.0b013e31825f048e
    • Englund, E , Gustafson, L , Passant, U , Majounie, E , Renton, AE , Traynor, BJ , Rohrer JD, Mok, K , Hardy, J (2012). Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol Aging, 33(8), - . doi:10.1016/j.neurobiolaging.2012.02.019
    • Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O, Chromosome 9-ALS/FTD Consortium , French research network on FTLD/FTLD/ALS , ITALSGEN Consortium , Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ (2012). Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.. Lancet Neurol, 11(4), 323 - 330. doi:10.1016/S1474-4422(12)70043-1
    • Mahoney CJ, Rohrer JD, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Warren JD, Beck J, Mead S, Lashley T, Collinge J, Revesz T, Mok K, Hardy J (2012). Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: Clinical, neuroanatomical and neuropathological features. Brain, 135(3), 736 - 750. doi:10.1093/brain/awr361
    • Huey ED, Ferrari R, Moreno JH, Jensen C, Morris CM, Potocnik F, Kalaria RN, Tierney M, Wassermann EM, Hardy J, Grafman J, Momeni P (2012). FUS and TDP43 genetic variability in FTD and CBS. NEUROBIOLOGY OF AGING, 33(5), - . doi:10.1016/j.neurobiolaging.2011.08.004
    • Papkovskaia TD, Chau KY, Inesta-Vaquera F, Papkovsky DB, Healy DG, Nishio K, Staddon J, Duchen MR, Hardy J, Schapira AH, Cooper JM (2012). G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization.. Hum Mol Genet, 21(19), 4201 - 4213. doi:10.1093/hmg/dds244
    • Hardy J (2012). Genetic analysis of disease in the era of whole genome analysis and public databases.. Neurobiol Aging, 33(4), 635 - . doi:10.1016/j.neurobiolaging.2011.12.039
    • Scharf J, Yu D, Mathews C, Neale B, Stewart E, Fagerness J, Evans P, Gamazon E, Service S, Osiecki L, Illmann C, Cath D, King R, Dion Y, Sandor P, Barr C, Budman C, Lyon G, Grados M, Singer H, Jankovic J, Gilbert D, Hoekstra P, Heiman G, Tischfield J, State M, Robertson M, Kurlan R, Ophoff R, Gibbs JR, Cookson M, Hardy J, Singleton A, Ruiz-Linares A, Rouleau G, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D (2012). Genome-Wide Association Study of Gilles de la Tourette Syndrome.
    • Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, Blesa R, Lleó A, Hardy J, Kulisevsky J, Clarimón J (2012). Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.. Mov Disord, 27(3), 393 - 399. doi:10.1002/mds.24045
    • McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, Hardy J, Wood NW, Schapira AH (2012). Hyposmia and cognitive impairment in Gaucher disease patients and carriers.. Mov Disord, 27(4), 526 - 532. doi:10.1002/mds.24945
    • Xiromerisiou G, Houlden H, Sailer A, Silveira-Moriyama L, Hardy J, Lees AJ (2012). Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease.. Mov Disord, 27(10), 1323 - . doi:10.1002/mds.24924
    • Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S, Maniega SM, Nho K, Nugent AC, O'Brien C, Papmeyer M, Pütz B, Ramasamy A, Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L, Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S, Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R, Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP, Kasperaviciute D, Kent JW, Kochunov P, Lancaster JL, Lawrie SM, Liewald DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK, Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R, Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D, Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA, Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB, Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ, Walter H, Weiner MW, Alzheimer's Disease Neuroimaging Initiative , EPIGEN Consortium , IMAGEN Consortium , Saguenay Youth Study Group , Bis JC, Ikram MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, DeCarli C, Seshadri S, Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium , Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner HG, Buckner RL, Cichon S, Coppola G, de Zubicaray GI, Deary IJ, Donohoe G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J, Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B, Wright MJ, Thompson PM, Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium (2012). Identification of common variants associated with human hippocampal and intracranial volumes.. Nat Genet, 44(5), 552 - 561. doi:10.1038/ng.2250
    • Matsuki T, Zaka M, Guerreiro R, van der Brug MP, Cooper JA, Cookson MR, Hardy JA, Howell BW (2012). Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice.. PLoS One, 7(2), e31152 - . doi:10.1371/journal.pone.0031152
    • Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, Bandinelli S, Traynor BJ, Hardy J, Singleton AB, Cookson MR (2012). Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.. Neurobiol Dis, 47(1), 20 - 28. doi:10.1016/j.nbd.2012.03.020
    • Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ (2012). Repeat Expansion in C9ORF72 in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE, 366(3), 283 - 284. doi:10.1056/NEJMc1113592
    • Ferrari R, Moreno JH, Momeni P, Mok K, Hardy J, Cosentino S, Goldman J, Mayeux R, Huey ED, Pietrini P, Tierney MC, Kapogiannis D, Wassermann EM, Grafman J, Jicha GA, Murrell JR, Ghetti B (2012). Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging, 33(8), - . doi:10.1016/j.neurobiolaging.2012.02.017
    • Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P (2012). Screening for C9ORF72 repeat expansion in FTLD.. Neurobiol Aging, 33(8), 1850.e1 - 1850.11. doi:10.1016/j.neurobiolaging.2012.02.017
    • Tucci A, Charlesworth G, Sheerin U-M, Wood NW, Hardy J, Plagnol V (2012). Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neuroscience Letters, 518(1), 19 - 22. doi:10.1016/j.neulet.2012.04.033
    • Schneider SA, Hardy J, Bhatia KP (2012). Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations.. Mov Disord, 27(1), 42 - 53. doi:10.1002/mds.23971
    • Charlesworth G, Gandhi S, Bras JM, Guerreiro R, Hardy J, Sheerin U-M, Wood NW, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Holton JL, Lees A, Revesz T, Morrison K, Williams N, Morris H (2012). Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging, 33(4), - . doi:10.1016/j.neurobiolaging.2011.11.001
    • Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW (2012). Tau acts as an independent genetic risk factor in pathologically proven PD.. Neurobiol Aging, 33(4), 838.e7 - 838.11. doi:10.1016/j.neurobiolaging.2011.11.001
    • Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP (2012). THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.. Mov Disord, 27(10), 1290 - 1294. doi:10.1002/mds.25146
    • Guerreiro RJ, Gustafson DR, Hardy J (2012). The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.. Neurobiol Aging, 33(3), 437 - 456. doi:10.1016/j.neurobiolaging.2010.03.025
    • Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium , Hingorani AD, Casas JP (2012). The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.. Lancet, 379(9822), 1214 - 1224. doi:10.1016/S0140-6736(12)60110-X

    2011

    • Singleton A, Hardy J (2011). A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. HUMAN MOLECULAR GENETICS, 20, R158 - R162. doi:10.1093/hmg/ddr358
    • Hardy J (2011). Read all about it!. NEW SCI, 211(2822), 22 - 23.
    • Hardy J, Guerreiro R (2011). A new way APP mismetabolism can lead to Alzheimer's disease.. EMBO Mol Med, 3(5), 247 - 248. doi:10.1002/emmm.201100139
    • Plagnol V, Nalls MA, Bras JM, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S, Amouyel P, Arepalli S, Band G, Barker RA, Bellinguez C, Ben-Shlomo Y, Berendse HW, Berg D, Bhatia K, de Bie RMA, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Brockmann K, Brooks J, Burn DJ, Charlesworth G, Chen HL, Chinnery PF, Chong S, Clarke CE, Cookson MR, Cooper JM, Corvol JC, Counsell C, Damier P, Dartigues JF, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Durr A, Edkins S, Evans JR, Foltynie T, Freeman C, Gao JJ, Gardner M, Gibbs JR, Goate A, Gray E, Guerreiro R, Gustafsson O, Harris C, Hellenthal G, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang XM, Huber H, Hudson G, Hunt SE, Huttenlocher J, Illig T, Jonsson PV, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, McNeill A, Moorby C, Moore M, Morris H, Morrison KE, Mudanohwo E, O'Sullivan SS, Pearson J, Pearson R, Perlmutter JS, Petursson H, Pirinen M, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Sidransky E, de Silva R, Smith C, Spencer CCA, Stefansson H, Steinberg S, Stockton JD, Strange A, Su Z, Talbot K, Tanner CM, Tashakkori-Ghanbaria A, Tison F, Trabzuni D, Traynor BJ, Uitterlinden AG, Vandrovcova J, Velseboer D, Vidailhet M, Vukcevic D, Walker R, van de Warrenburg B, Weale ME, Wickremaratchi M, Williams N, Williams-Gray CH, Winder-Rhodes S, Stefansson K, Martinez M, Donnelly P, Singleton AB, Hardy J, Heutink P, Brice A, Gasser T, Wood NW, WTCCC2 (2011). A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLOS GENET, 7(6), - . doi:10.1371/journal.pgen.1002142
    • Guerreiro RJ, Hardy J (2011). Alzheimer's disease genetics: lessons to improve disease modelling.. Biochem Soc Trans, 39(4), 910 - 916. doi:10.1042/BST0390910
    • Peuralinna T, Tanskanen M, Makela M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L (2011). APOE and A beta PP Gene Variation in Cortical and Cerebrovascular Amyloid-beta Pathology and Alzheimer's Disease: A Population-Based Analysis. J ALZHEIMERS DIS, 26(2), 377 - 385. doi:10.3233/JAD-2011-102049
    • Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson M, Ourselin S, Holton J, Fox NC, Revesz T, Rossor MN, Warren JD (2011). Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain, 134(9), 2565 - 2581.
    • Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A (2011). Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).. Mov Disord, 26(11), 2134 - 2136. doi:10.1002/mds.23776
    • Hardy J, Guerreiro R, Lovestone S (2011). Clusterin as an Alzheimer biomarker.. Arch Neurol, 68(11), 1459 - 1460. doi:10.1001/archneurol.2011.1000
    • Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Alzheimer's Disease Neuroimaging Initiative , van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, CHARGE consortium , Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M, EADI1 consortium , Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J (2011). Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.. Nat Genet, 43(5), 429 - 435. doi:10.1038/ng.803
    • Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JSK, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, Mckee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. NAT GENET, 43(5), 436 - +. doi:10.1038/ng.801
    • Naj AC, Beecham GW, Gallins PJ, Gilbert JR, Rajbhandary RA, Slifer MA, Martin ER, Pericak-Vance MA, Jun G, Lunetta KL, Farrer LA, Vardarajan BN, Buros J, Baldwin CT, Green RC, Wang L-S, Trojanowski JQ, Van Deerlin VM, Cantwell LB, Dombroski BA, Schellenberg GD, Buxbaum JD, Sano M, Tsuang DW, Jarvik GP, Crane PK, McCormick WC, Larson EB, Bird TD, Boeve BF, Petersen RC, Graff-Radford NR, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Dickson DW, De Jager PL, Evans D, Schneider JA, Bennett DA, Cruchaga C, Nowotny P, Goate AM, Kauwe JSK, Kramer P, Kaye JA, Quinn JF, Hardy J, Huentelman MJ, Corneveaux J, Reiman EM, Myers AJ, Barmada MM, Demirci FY, Kamboh MI, Kowall NW, McKee AC, Stern RA, Rogaeva E, George-Hyslop PS, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Karydas A, Miller BL, Seeley W, Burke JR, Cairns NJ, Morris JC, Carlson CS, McDavid AN, Carney RM, Carroll SL, Fallon KB, Chui HC, Schneider LS, Clark DG, Harrell LE, Marson DC, Roberson ED, Cotman CW, Dick M, Poon WW, Cummings JL, Ringman JM, Vinters HV, Decarli C, Dekosky ST, Diaz-Arrastia R, Rosenberg RN, Ellis WG, Jin L-W, Miller JW, Faber KM, Saykin AJ, Foroud TM, Farlow MR, Ferris S, Reisberg B, Frosch MP, Galasko DR, Koo EH, Masliah E, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Spina S, Gilman S, Giordani B, Glass JD, Lah JJ, Levey AI, Growdon JH, Hyman BT, Tanzi RE, Hamilton RL, Head E, Honig LS, Williamson J, Mayeux R, Hulette CM, Welsh-Bohmer KA, Jicha GA, Smith CD, Johnson N, Karlawish J, Kim R, Lieberman AP, Lopez OL, MacK WJ, Martiniuk F, Mash DC, McCurry SM, Mesulam M, Weintraub S, Miller CA, Parisi JE, Perl DP, Peskind E, Raskind M, Shelanski ML, Sonnen JA, Montine TJ, Troncoso JC, Vonsattel JP, Woltjer RL, Beekly D, Blacker D, Hakonarson H, Kukull WA, Haines JL (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics, 43(5), 436 - 443. doi:10.1038/ng.801
    • Chibnik LB, Shulman JM, Leurgans SE, Schneider JA, Wilson RS, Tran D, Aubin C, Buchman AS, Heward CB, Myers AJ, Hardy JA, Huentelman MJ, Corneveaux JJ, Reiman EM, Evans DA, Bennett DA, De Jager PL (2011). CR1 Is Associated with Amyloid Plaque Burden and Age-Related Cognitive Decline. ANN NEUROL, 69(3), 560 - 569. doi:10.1002/ana.22277
    • Hardy J, Thompson AJ (2011). Dissecting the familial risk of multiple sclerosis.. Ann Neurol, 69(1), 11 - 12. doi:10.1002/ana.22353
    • Spencer CCA, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, Barker RA, Bellenguez C, Bhatia K, Blackburn H, Blackwell JM, Bramon E, Brown MA, Brown MA, Burn D, Casas JP, Chinnery PF, Clarke CE, Corvin A, Craddock N, Deloukas P, Edkins S, Evans J, Freeman C, Gray E, Hardy J, Hudson G, Hunt S, Jankowski J, Langford C, Lees AJ, Markus HS, Mathew CG, McCarthy MI, Morrison KE, Palmer CNA, Pearson JP, Peltonen L, Pirinen M, Plomin R, Potter S, Rautanen A, Sawcer SJ, Su Z, Trembath RC, Viswanathan AC, Williams NW, Morris HR, Donnelly P, Wood NW, UK Parkinson's Dis Consortium , Wellcome Trust Case Control Consor (2011). Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21. HUM MOL GENET, 20(2), 345 - 353. doi:10.1093/hmg/ddq469
    • Spencer CC, Strange A, Band G, Bellenguez C, Freeman C, McCarthy MI, Pirinen M, Rautanen A, Su Z, Donnelly P, Plagnol V, Gardner M, Paisan-Ruiz C, Bhatia K, Hardy J, Lees AJ, Wood NW, Barker RA, Evans J, Blackburn H, Deloukas P, Edkins S, Gray E, Hunt S, Langford C, Peltonen L, Potter S, Blackwell JM, Pearson JP, Williams NW, Brown MA, Chinnery PF, Hudson G, Burn D, Casas J-P, Clarke CE, Morrison KE, Corvin A, Craddock N, Jankowski J, Markus HS, Mathew CG, Trembath RC, Palmer CN, Plomin R, Sawcer SJ, Viswanathan AC, Morris HR, Bramon E (2011). Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Human Molecular Genetics, 20(2), 345 - 353. doi:10.1093/hmg/ddq469
    • Holmes MV, Newcombe P, Hubacek JA, Sofat R, Ricketts SL, Cooper J, Breteler MM, Bautista LE, Sharma P, Whittaker JC, Smeeth L, Fowkes FG, Algra A, Shmeleva V, Szolnoki Z, Roest M, Linnebank M, Zacho J, Nalls MA, Singleton AB, Ferrucci L, Hardy J, Worrall BB, Rich SS, Matarin M, Norman PE, Flicker L, Almeida OP, van Bockxmeer FM, Shimokata H, Khaw KT, Wareham NJ, Bobak M, Sterne JA, Smith GD, Talmud PJ, van Duijn C, Humphries SE, Price JF, Ebrahim S, Lawlor DA, Hankey GJ, Meschia JF, Sandhu MS, Hingorani AD, Casas JP (2011). Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials.. Lancet, 378(9791), 584 - 594. doi:10.1016/S0140-6736(11)60872-6
    • Balazs R, Vernon J, Hardy J (2011). Epigenetic mechanisms in Alzheimer's disease: progress but much to do.. Neurobiol Aging, 32(7), 1181 - 1187. doi:10.1016/j.neurobiolaging.2011.02.024
    • Sailer A, Scholz SW, Gibbs JR, Johnson JO, Wood NW, Hernandez D, Hardy J, Federoff H, Traynor BJ, Singleton AB, Houlden H (2011). EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS.
    • Ferrari R, Hardy J, Momeni P (2011). Frontotemporal Dementia: From Mendelian Genetics Towards Genome Wide Association Studies. JOURNAL OF MOLECULAR NEUROSCIENCE, 45(3), 500 - 515. doi:10.1007/s12031-011-9635-y
    • Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S (2011). Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. NEUROBIOL AGING, 32(4), - . doi:10.1016/j.neurobiolaging.2010.12.005
    • Hardy J, Low NC (2011). Genes and environment in psychiatry: winner's curse or cure?. Arch Gen Psychiatry, 68(5), 455 - 456. doi:10.1001/archgenpsychiatry.2011.35
    • Meschia JF, Nalls MA, Rich SS, Singleton A, Hardy JA, Brott TG, Brown RD, Kissela B, Worrall BB, SWISS Investigators (2011). Genome-wide Search for Ischemic Stroke Genes: The Siblings with Ischemic Stroke Study (SWISS).
    • Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG, Brown RD, Hardy J, Worrall BB (2011). Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis.. PLoS One, 6(9), e23161 - . doi:10.1371/journal.pone.0023161
    • Parkkinen L, Neumann J, O'Sullivan SS, Holton JL, Revesz T, Hardy J, Lees AJ (2011). Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease.. Mol Genet Metab, 103(4), 410 - 412. doi:10.1016/j.ymgme.2011.04.015
    • Hoglinger GU, Melhem NM, Dickson DW, Sleiman PMA, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Muller U, Schellenberg GD, PSP Genetics Study Grp (2011). Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. NAT GENET, 43(7), 699 - U125. doi:10.1038/ng.859
    • Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simon-Sanchez J, Schulte C, Lesage S, Sveinbjornsdottir S, Arepalli S, Barker R, Ben-Shlomo Y, Berendse HW, Berg D, Bhatia K, de Bie RMA, Biffi A, Bloem B, Bochdanovits Z, Bonin M, Bras JM, Brockmann K, Brooks J, Burn DJ, Charlesworth G, Chen HL, Chinnery PF, Chong S, Clarke CE, Cookson MR, Cooper JM, Corvol JC, Counsell C, Damier P, Dartigues JF, Deloukas P, Deuschl G, Dexter DT, van Dijk KD, Dillman A, Durif F, Durr A, Edkins S, Evans JR, Foltynie T, Gao JJ, Gardner M, Gibbs JR, Goate A, Gray E, Guerreiro R, Gustafsson O, Harris C, van Hilten JJ, Hofman A, Hollenbeck A, Holton J, Hu M, Huang XM, Huber H, Hudson G, Hunt SE, Huttenlocher J, Illig T, Jonsson PV, Lambert JC, Langford C, Lees A, Lichtner P, Limousin P, Lopez G, Lorenz D, McNeill A, Moorby C, Moore M, Morris HR, Morrison KE, Mudanohwo E, O'Sullivan SS, Pearson J, Perlmutter JS, Petursson H, Pollak P, Post B, Potter S, Ravina B, Revesz T, Riess O, Rivadeneira F, Rizzu P, Ryten M, Sawcer S, Schapira A, Scheffer H, Shaw K, Shoulson I, Sidransky E, Smith C, Spencer CCA, Stefansson H, Stockton JD, Strange A, Talbot K, Tanner CM, Tashakkori-Ghanbaria A, Tison F, Trabzuni D, Traynor BJ, Uitterlinden AG, Velseboer D, Vidailhet M, Walker R, van de Warrenburg B, Wickremaratchi M, Williams N, Williams-Gray CH, Winder-Rhodes S, Stefansson K, Martinez M, Hardy J, Heutink P, Brice A, Gasser T, Singleton AB, Wood NW, Int Parkinson Dis Genomics Consort , Wellcome Trust Case-Control Consor (2011). Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET, 377(9766), 641 - 649. doi:10.1016/S0140-6736(10)62345-8
    • Ross OA, Soto-Ortolaza AI, Verbeeck C, Rich SS, Singleton A, Hardy JA, Brott TG, Brown RD, Kissela B, Worrall BB, Meschia JF, SWISS Investigators (2011). Results of NOTCH3 Sequencing in Siblings with Ischemic Stroke Study Probands.
    • Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Durr A, Singleton A, Brice A (2011). SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia. ARCH NEUROL-CHICAGO, 68(5), 637 - 643.
    • Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D, Ferrucci L, Pearce K, Keller M, Worrall BB, Siblings With Ischemic Stroke Study Investigators (2011). Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci.. Stroke, 42(10), 2726 - 2732. doi:10.1161/STROKEAHA.111.620484
    • Hardy J, Guerreiro R, Wray S, Ferrari R, Momeni P (2011). The Genetics of Alzheimer's Disease and Other Tauopathies. J ALZHEIMERS DIS, 23, S33 - S39.
    • Crehan H, Pocock JM, Hardy J (2011). THE ROLE OF MICROGLIAL COMPLEMENT RECEPTOR 1 (CR1) IN ALZHEIMER'S DISEASE.
    • Camargos ST, Gurgel-Giannetti J, Lees A, Hardy J, Singleton A, Cardoso F (2011). Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 82(9), 1059 - +. doi:10.1136/jnnp.2009.200808
    • Gasser T, Hardy J, Mizuno Y (2011). Milestones in PD Genetics. MOVEMENT DISORD, 26(6), 1042 - 1048. doi:10.1002/mds.23637
    • Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J (2011). No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.. Am J Med Genet B Neuropsychiatr Genet, 156B(7), 764 - 771. doi:10.1002/ajmg.b.31216
    • Devine MJ, Gwinn K, Singleton A, Hardy J (2011). Parkinson's disease and α-synuclein expression.. Mov Disord, 26(12), 2160 - 2168. doi:10.1002/mds.23948
    • Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T (2011). Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus.. Nat Commun, 2, 440 - . doi:10.1038/ncomms1453
    • Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, Schapira AH, Wolozin B, Bandopadhyay R, Cookson MR, van der Brug MP, Lewis PA (2011). Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue.. PLoS One, 6(7), e22489 - . doi:10.1371/journal.pone.0022489
    • Trabzuni D, Ryten M, Walker R, Smith C, Imran S, Ramasamy A, Weale ME, Hardy J (2011). Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies.. J Neurochem, 119(2), 275 - 282. doi:10.1111/j.1471-4159.2011.07432.x
    • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M, ITALSGEN Consortium , Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011). A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.. Neuron, 72(2), 257 - 268. doi:10.1016/j.neuron.2011.09.010

    2010

    • Guerreiro RJ, Washecka N, Hardy J, Singleton A (2010). A thorough assessment of benign genetic variability in GRN and MAPT.. Hum Mutat, 31(2), E1126 - E1140. doi:10.1002/humu.21152
    • Matsuki T, Matthews RT, Cooper JA, van der Brug MP, Cookson MR, Hardy JA, Olson EC, Howell BW (2010). Reelin and Stk25 Have Opposing Roles in Neuronal Polarization and Dendritic Golgi Deployment. CELL, 143(5), 826 - 836. doi:10.1016/j.cell.2010.10.029
    • Wray S, Hardy J (2010). All MAPT out?: Well-travelled pathways into neurodegeneration. Biochemist, 32(2), 14 - 17.
    • Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen KW, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ (2010). Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. HUM MOL GENET, 19(16), 3295 - 3301. doi:10.1093/hmg/ddq221
    • Corneveaux JJ, Allen AN, Pruzin JJ, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Craig DW, Van Keuren-Jensen KR, Dunckley T, Reiman EM, Huentelman MJ, Chen K, Lee W, Myers AJ, Ramirez M, Engel A, Nalls MA, Singleton AB, Bennett DA, Chibnik LB, Shulman JM, de Jager PL, Heward C, Hardy J (2010). Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Human Molecular Genetics, 19(16), 3295 - 3301. doi:10.1093/hmg/ddq221
    • Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP (2010). ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.. Mov Disord, 25(8), 979 - 984. doi:10.1002/mds.22947
    • Hampel H, Frank R, Broich K, Teipel SJ, Katz RG, Hardy J, Herholz K, Bokde ALW, Jessen F, Hoessler YC, Sanhai WR, Zetterberg H, Woodcock J, Blennow K (2010). Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. NAT REV DRUG DISCOV, 9(7), 560 - 574. doi:10.1038/nrd3115
    • Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW (2010). Cancer and Neurodegeneration: Between the Devil and the Deep Blue Sea. PLOS GENET, 6(12), - . doi:10.1371/journal.pgen.1001257
    • Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW (2010). Cancer and neurodegeneration: between the devil and the deep blue sea.. PLoS genetics, 6(12), - . doi:10.1371/journal.pgen.1001257
    • Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J (2010). Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.. PLoS One, 5(11), e13950 - . doi:10.1371/journal.pone.0013950
    • Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J (2010). Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.. Neurobiol Aging, 31(5), 725 - 731. doi:10.1016/j.neurobiolaging.2008.06.012
    • Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C (2010). Genetic variability at the PARK16 locus.. Eur J Hum Genet, 18(12), 1356 - 1359. doi:10.1038/ejhg.2010.125
    • Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J (2010). Genetic variability in CLU and its association with Alzheimer's disease.. PLoS One, 5(3), e9510 - . doi:10.1371/journal.pone.0009510
    • Hardy J (2010). Genetics of tauopathies.
    • Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chiò A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A (2010). Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.. Lancet Neurol, 9(10), 986 - 994. doi:10.1016/S1474-4422(10)70197-6
    • Van Deerlin VM, Sleiman PMA, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DMA, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, al-Sarraj S, Troakes C, Rosenberg RN, White CL, Ferrer I, Llado A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, de Munain AL, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IRA, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JPG, Troncoso JC, Kril JJ, Kwok JBJ, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tunon MT, Martinez MCC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VMY (2010). Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions. NAT GENET, 42(3), 234 - U34. doi:10.1038/ng.536
    • Wang CL, Szpiech ZA, Degnan JH, Jakobsson M, Pemberton TJ, Hardy JA, Singleton AB, Rosenberg NA (2010). Comparing Spatial Maps of Human Population-Genetic Variation Using Procrustes Analysis. STAT APPL GENET MOL, 9(1), - . doi:10.2202/1544-6115.1493
    • Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ (2010). Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).. Ann Neurol, 68(5), 611 - 618. doi:10.1002/ana.22122
    • Vandrovcova J, Anaya F, Kay V, Lees A, Hardy J, de Silva R (2010). Disentangling the role of the tau gene locus in sporadic tauopathies.. Curr Alzheimer Res, 7(8), 726 - 734.
    • Paisán-Ruiz C, Guevara R, Federoff M, Hardy J, Lees AJ, Houlden H, Hanagasi H, Emre M, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bhatia KP, Bajaj N, Singleton AB, Brandner S (2010). Early-onset L-dopa-responsive Parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and Spatacsin mutations. Movement Disorders, 25(12), 1791 - 1800. doi:10.1002/mds.23221
    • Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, Houlden H (2010). Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.. Mov Disord, 25(12), 1791 - 1800. doi:10.1002/mds.23221
    • International Stroke Genetics Consortium , Wellcome Trust Case-Control Consortium 2 (2010). Failure to validate association between 12p13 variants and ischemic stroke.. N Engl J Med, 362(16), 1547 - 1550. doi:10.1056/NEJMc0910050
    • Momeni P, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR (2010). Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia.. Clin Neurol Neurosurg, 112(10), 917 - 920. doi:10.1016/j.clineuro.2010.07.015
    • Maloney B, Ge YW, Petersen RC, Hardy J, Rogers JT, Perez-Tur J, Lahiri DK (2010). Functional Characterization of Three Single-Nucleotide Polymorphisms Present in the Human APOE Promoter Sequence: Differential Effects in Neuronal Cells and on DNA-Protein Interactions. AM J MED GENET B, 153B(1), 185 - 201. doi:10.1002/ajmg.b.30973
    • Maloney B, Ge Y-W, Lahiri DK, Petersen RC, Hardy J, Rogers JT, Pérez-Tur J (2010). Functional characterization of three single-nucleotide polymorphisms present in the human APOε promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(1), 185 - 201. doi:10.1002/ajmg.b.30973
    • Hardy J (2010). Genetic analysis of pathways to Parkinson disease.. Neuron, 68(2), 201 - 206. doi:10.1016/j.neuron.2010.10.014
    • Sailer A, Paisa-Puiz C, Li A, Paudel R, Scholz SW, Ahmed Z, Revesz T, Mathias CJ, Wood NW, Holton J, Hardy J, Houlden H (2010). Genetic analysis of the MAPT locus in multiple system atrophy.
    • Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J (2010). Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.. Trends Neurosci, 33(5), 211 - 219. doi:10.1016/j.tins.2010.02.005
    • Hardy J, Williams J (2010). Identification of Alzheimer risk factors through whole-genome analysis.. Arch Neurol, 67(6), 663 - 664. doi:10.1001/archneurol.2010.97
    • Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M (2010). Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.. Mov Disord, 25(10), 1424 - 1431. doi:10.1002/mds.23095
    • Sofola O, Kerr F, Rogers I, Killick R, Augustin H, Gandy C, Allen MJ, Hardy J, Lovestone S, Partridge L (2010). Inhibition of GSK-3 ameliorates Abeta pathology in an adult-onset Drosophila model of Alzheimer's disease.. PLoS Genet, 6(9), e1001087 - . doi:10.1371/journal.pgen.1001087
    • Hardy J (2010). Sample tracking and use in published genome-wide association studies.. Arch Neurol, 67(10), 1267 - 1268. doi:10.1001/archneurol.2010.251
    • van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H (2010). Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.. Mov Disord, 25(6), 771 - 773. doi:10.1002/mds.22970
    • Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP (2010). THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.. Neurology, 74(10), 846 - 850. doi:10.1212/WNL.0b013e3181d5276d
    • Matarin M, Singleton A, Hardy J, Meschia J (2010). The genetics of ischaemic stroke. doi:10.1111/j.1365-2796.2009.02202.x
    • Hardy J (2010). The genetics of parkinsonisms.
    • Wain LV, Shrine NRG, Shaw C, Powell JF, Hardy J, Shaw P, Morrison KE, Brown RH, Orrell R, Mok B, Palmer LJ, Hui J, James AL, Musk B, Al-Chalabi A, Tobin MD (2010). The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS).
    • Singleton AB, Hardy J, Traynor BJ, Houlden H (2010). Towards a complete resolution of the genetic architecture of disease.. Trends Genet, 26(10), 438 - 442. doi:10.1016/j.tig.2010.07.004
    • Hardy J (2010). Whole Genome Analysis of Neurodegenerative Disease.
    • Antonarakis SE, Chakravarti A, Cohen JC, Hardy J (2010). Mendelian disorders and multifactorial traits: the big divide or one for all?. NAT REV GENET, 11(5), 380 - 384. doi:10.1038/nrg2793
    • Hardy J (2010). Neurological diagnoses identify molecular processes.. Arch Neurol, 67(4), 400 - 401. doi:10.1001/archneurol.2010.41
    • Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P (2010). Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.. Alzheimer Dis Assoc Disord, 24(4), 397 - 401. doi:10.1097/WAD.0b013e3181df20c7
    • Momeni P, DeTucci K, Straub RE, Weinberger DR, Davies P, Grafman J, Hardy J, Huey ED (2010). Progranulin (GRN) in two siblings of a Latino family and in other patients with Schizophrenia. NEUROCASE, 16(3), 273 - 279. doi:10.1080/13554790903456209
    • Hardy J, Gwinn K (2010). Protected to death.. J Alzheimers Dis, 20(2), 409 - 413. doi:10.3233/JAD-2010-1416
    • Zetzsche T, Rujescu D, Hardy J, Hampel H (2010). Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease. EXPERT REV MOL DIAGN, 10(5), 667 - 690. doi:10.1586/ERM.10.48

    2009

    • Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J (2009). A Case of Dementia With PRNP D178Ncis-129M and No Insomnia. ALZ DIS ASSOC DIS, 23(4), 415 - 417.
    • Lees AJ, Hardy J, Revesz T (2009). Parkinson's disease. The Lancet, 373(9680), 2055 - 2066. doi:10.1016/S0140-6736(09)60492-X
    • Li A, Paisan-Ruiz C, Holton JL, Schneider S, Hardy J, Kidd D, Chataway J, Bhatia KP, Houlden H, Revesz T (2009). A pathological genotype-phenotype study of four neuroaxonal dystrophy cases with PLA2G6 mutations.
    • Liu W, Ding JH, Gibbs JR, Wang SJ, Hardy J, Singleton A (2009). A simple and efficient algorithm for genome-wide homozygosity analysis in disease. MOL SYST BIOL, 5, - . doi:10.1038/msb.2009.53
    • Ricciardi F, Paisan-Ruiz C, Kang JS, Hilker R, Gispert-Sanchez S, Hardy J, Auburger G (2009). A Turkish consanguineous family with adult generalised dystonia shows autozygosity overlap with the Jewish autosomal recessive DYT2 family.
    • Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La BV, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ (2009). A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.. Hum Mol Genet, 18(8), 1524 - 1532. doi:10.1093/hmg/ddp059
    • Matarin M, Brown WM, Dena H, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Case LD, Chanock SJ, Metter EJ, Ferruci L, Gamble D, Hardy JA, Rich SS, Singleton A, Meschia JF (2009). Candidate Gene Polymorphisms for Ischemic Stroke. STROKE, 40(11), 3436 - 3442. doi:10.1161/STROKEAHA.109.558015
    • Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA (2009). Characterization of PLA2G6 as a locus for Dystonia-Parkinsonism. Annals of Neurology, 65(1), 19 - 23. doi:10.1002/ana.21415
    • Hardy J (2009). Genetic dissection of neurodegenerative disease.
    • Hardy J, Singleton A (2009). Genomewide association studies and human disease. New England Journal of Medicine, 360(17), 1759 - 1768. doi:10.1056/NEJMra0808700
    • Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.. Nat Genet, 41(10), 1088 - 1093. doi:10.1038/ng.440
    • Momeni P, Pittman A, Lashley T, Vandrovcova J, Malzer E, Luk C, Hulette C, Lees A, Revesz T, Hardy J, de Silva R (2009). Clinical and pathological features of an Alzheimer's disease patient with the MAPT DeltaK280 mutation.. Neurobiology of Aging, 30(3), 388 - 393. doi:10.1016/j.neurobiolaging.2007.07.013
    • Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L (2009). Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neuroscience Letters, 452(2), 87 - 89. doi:10.1016/j.neulet.2009.01.029
    • Schneider SA, Bhatia KP, Hardy J (2009). Complicated recessive dystonia parkinsonism syndromes. Movement Disorders, 24(4), 490 - 498. doi:10.1002/mds.22314
    • Kumaran R, Vandrovcova J, Luk C, Sharma S, Renton A, Wood NW, Hardy JA, Lees AJ, Bandopadhyay R (2009). Differential DJ-1 gene expression in Parkinson's disease.. Neurobiol Dis, 36(2), 393 - 400. doi:10.1016/j.nbd.2009.08.011
    • Nalls MA, Guerreiro RJ, Simon-Sanchez J, Bras JT, Traynor BJ, Gibbs JR, Launer L, Hardy J, Singleton AB (2009). Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics, 10(3), 183 - 190. doi:10.1007/s10048-009-0182-4
    • Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F (2009). Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Movement Disorders, 24(5), 662 - 666. doi:10.1002/mds.22365
    • Blom ES, Giedraitis V, Arepalli S, Hamshere ML, Adighibe O, Goate A, Williams J, Lannfelt L, Hardy J, Wavrant-De Vrieze F, Glaser A (2009). Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. BMC MEDICAL GENETICS, 10, - . doi:10.1186/1471-2350-10-122
    • Hardy J (2009). GENETIC ANALYSIS OF NEURODEGENERATION.
    • Hardy J (2009). Genetic analysis of sporadic neurodegenerative disease.
    • Hardy J, Coleman PD (2009). Genetic Analysis Publications in Neurobiology of Aging. NEUROBIOLOGY OF AGING, 30(4), 506 - 506. doi:10.1016/j.neurobiolaging.2009.01.003
    • Webster JA, Gibbs JR, Clarke J, Ray M, Zhang WX, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, McCorquodale DS, Cuello C, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, Craig DW, Pearson JV, NACC-Neuropathology Group H, C B R, E M S, D H, J M, A J (2009). Genetic control of human brain transcript expression in Alzheimer disease. American Journal of Human Genetics, 84(4), 445 - 458. doi:10.1016/j.ajhg.2009.03.011
    • Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T (2009). Genome-wide association study reveals genetic risk underlying Parkinson's disease.. Nat Genet, 41(12), 1308 - 1312. doi:10.1038/ng.487
    • Huang L, Li Y, Singleton AB, Hardy JA, Abecasis G, Rosenberg NA, Scheet P (2009). Genotype-imputation accuracy across worldwide human populations. The American Journal of Human Genetics, 84(2), 235 - 250. doi:10.1016/j.ajhg.2009.01.013
    • Ryten M, Trabzuni D, Hardy J (2009). Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases. Briefings in Functional Genomics, 8(3), 194 - 198. doi:10.1093/bfgp/elp028
    • Ryten M, Trabzuni D, Hardy J (2009). Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases.. Brief Funct Genomic Proteomic, 8(3), 194 - 198. doi:10.1093/bfgp/elp028
    • Segarane B, Li A, Paudel R, Scholz S, Neumann J, Lees A, Revesz T, Hardy J, Mathias CJ, Wood NW, Holton J, Houlden H (2009). Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology, 72(13), 1185 - 1186. doi:10.1212/01.wnl.0000345356.40399.eb
    • Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW (2009). Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain, 132(7), 1783 - 1794. doi:10.1093/brain/awp044
    • Neumann J, Parkkinen L, Bras J, O'sullivan SS, Deas E, Lachmann H, Li A, Holton L, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW (2009). Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
    • Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP (2009). GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Movement Disorders, 24(11), 1684 - 1688. doi:10.1002/mds.22507
    • Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T (2009). SNCA variants are associated with increased risk for multiple system atrophy.. Ann Neurol, 65(5), 610 - 614. doi:10.1002/ana.21685
    • Hardy J (2009). The amyloid hypothesis for Alzheimer's disease: a critical reappraisal. Journal of Neurochemistry, 110(4), 1129 - 1134. doi:10.1111/j.1471-4159.2009.06181.x
    • Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C (2009). The genetics of Parkinson's syndromes: a critical review. Current Opinion in Genetics and Development, 19(3), 254 - 265. doi:10.1016/j.gde.2009.03.008
    • Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IRA, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN (2009). The heritability and genetics of frontotemporal lobar degeneration. Neurology, 73(18), 1451 - 1456. doi:10.1212/WNL.0b013e3181bf997a
    • Clarimon J, Djaldetti R, Lleo A, Guerreiro RJ, Molinuevo JL, Paisan-Ruiz C, Gomez-Isla T, Blesa R, Singleton A, Hardy J (2009). Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiology of Aging, 30(12), 1986 - 1991. doi:10.1016/j.neurobiolaging.2008.02.008
    • Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J (2009). Whole genome analysis in a consanguineous family with early onset Alzheimer's disease.. Neurobiol Aging, 30(12), 1986 - 1991. doi:10.1016/j.neurobiolaging.2008.02.008
    • Hardy J, Trabzuni D, Ryten M (2009). Whole genome expression as a quantitative trait.. Biochem Soc Trans, 37(Pt 6), 1276 - 1277. doi:10.1042/BST0371276
    • Schneider SA, Hardy J, Bhatia KP (2009). Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?. Journal of Neurology, Neurosurgery and Psychiatry, 80(6), 589 - 590. doi:10.1136/jnnp.2008.169953
    • Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB (2009). Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genetics, 5(3), e1000415 - . doi:10.1371/journal.pgen.1000415
    • Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB (2009). Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics.. PLoS Genet, 5(3), e1000415 - . doi:10.1371/journal.pgen.1000415
    • Dickson DW, Braak H, Duda JE, Duyckaerts C, Gasser T, Halliday GM, Hardy J, Leverenz JB, Del Tredici K, Wszolek ZK, Litvan I (2009). Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. LANCET NEUROL, 8(12), 1150 - 1157.
    • Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP (2009). Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Movement Disorders, 24(1), 138 - 140. doi:10.1002/mds.22181
    • Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, Lopez LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S (2009). A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q(10) deficiency: a potentially treatable form of mitochondrial disease. American Journal of Human Genetics, 84(5), 558 - 566. doi:10.1016/j.ajhg.2009.03.018

    2008

    • Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, Schulze TG, Cichon S, Rietschel M, Noethen MM, Georgi A, Schumacher J, Schwarz M, Abou Jamra R, Hoefels S, Propping P, Satagopan J, Detera-Wadleigh SD, Hardy J, McMahon FJ, Bipolar NIMHGI (2008). A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. MOLECULAR PSYCHIATRY, 13(2), 197 - 207. doi:10.1038/sj.mp.4002012
    • Hardy J (2008). Race, genetics, and medicine at a crossroads. LANCET, , S85 - S89.
    • Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J (2008). Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.. PLoS One, 3(10), e3421 - . doi:10.1371/journal.pone.0003421
    • Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A (2008). Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.. BMC Neurol, 8, 1 - . doi:10.1186/1471-2377-8-1
    • Matarin M, Brown WM, Hardy JA, Rich SS, Singleton AB, Brown RD, Brott TG, Worrall BB, Meschia JF, SWISS Study Group , ISGS Study Group , MSGD Study Group (2008). Association of integrin alpha2 gene variants with ischemic stroke.. J Cereb Blood Flow Metab, 28(1), 81 - 89. doi:10.1038/sj.jcbfm.9600508
    • Cookson MR, Hardy J, Lewis PA (2008). Genetic Neuropathology of Parkinson's Disease. INT J CLIN EXP PATHO, 1(3), 217 - 231.
    • Blom ES, Holmans P, Arepalli S, Adighibe O, Hamshere ML, Gatz M, Pedersen NL, Bergem ALM, Owen MJ, Hollingworth P, Goate A, Williams J, Lannfelt L, Hardy J, Vrieze FW-D, Glaser A (2008). Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 147B(6), 778 - 783. doi:10.1002/ajmg.b.30681
    • Camargos S, Scholz S, Simon-Sanchez J, Paisan-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB (2008). DYT16, a novel young-onset dystonia-parkinson ism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet Neurology, 7(3), 207 - 215. doi:10.1016/S1474-4422(08)70022-X
    • Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB (2008). DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.. Lancet Neurol, 7(3), 207 - 215. doi:10.1016/S1474-4422(08)70022-X
    • Bras J, Singleton A, Cookson MR, Hardy J (2008). Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. The FEBS Journal, 275(23), 5767 - 5773. doi:10.1111/j.1742-4658.2008.06709.x
    • Zody MC, Jiang Z, Fung HC, Antonacci F, Hillier LW, Cardone MF, Graves TA, Kidd JM, Cheng Z, Abouelleil A, Chen L, Wallis J, Glasscock J, Wilson RK, Reily AD, Duckworth J, Ventura M, Hardy J, Warren WC, Eichler EE (2008). Evolutionary toggling of the MAPT 17q21.31 inversion region. Nature Genetics, 40(9), 1076 - 1083. doi:10.1038/ng.193
    • Rogaeva E, Hardy J (2008). Gaucher and Parkinson diseases: Unexpectedly related. NEUROLOGY, 70(24), 2272 - 2273.
    • Simon-Sanchez J, Scholz S, Matarin MDM, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A (2008). Genomewide SNP assay reveals mutations underlying Parkinson disease. HUM MUTAT, 29(2), 315 - 322. doi:10.1002/humu.20626
    • Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB (2008). Genotype, haplotype and copy-number variation in worldwide human populations. Nature, 451(7181), 998 - 1003. doi:10.1038/nature06742
    • Tanskanen M, Peuralinna T, Polvikoski T, Notkola I-L, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L (2008). Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: A population-based autopsy study. ANNALS OF MEDICINE, 40(3), 232 - 239. doi:10.1080/07853890701842988
    • Webster JA, Myers A, Pearson JV, Craig DW, Diane H-L, Coon KD, Zismann VL, Beach T, Leunge D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Huentelman MJ, Joshipura K, Walker D, Heward CB, Ravidi R, Rogers J, Papassotiropoulos A, Hardy J, Reiman EM, Stephan DA (2008). Sorl1 as an Alzheimer's disease predisposition gene?. NEURODEGENERATIVE DISEASES, 5(2), 60 - 64. doi:10.1159/000110789
    • Matarin M, Simon-Sanchez J, Fung HC, Scholz S, Gibbs JR, Hernandez DG, Crews C, Britton A, De Vrieze FW, Brott TG, Brown RD, Worrall BB, Silliman S, Case LD, Hardy JA, Rich SS, Meschia JF, Singleton AB (2008). Structural genomic variation in ischemic stroke. NEUROGENETICS, 9(2), 101 - 108. doi:10.1007/s10048-008-0119-3
    • Hardy J, Singleton A (2008). The HapMap: charting a course for genetic discovery in neurological diseases. Archives of Neurology, 65(3), 319 - 321. doi:10.1001/archneur.65.3.319
    • Matarin M, Brown WM, Singleton A, Hardy JA, Meschia JF (2008). Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke, 39(5), 1586 - 1589. doi:10.1161/STROKEAHA.107.502963
    • Hardy J, Low N, Singleton A (2008). Whole genome association studies: Deciding when persistence becomes perseveration. AM J MED GENET B, 147B(2), 131 - 133. doi:10.1002/ajmg.b.30568
    • Hardy J, Singleton A, Low N (2008). Whole genome association studies: Deciding when persistence becomes perseveration. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 147(2), 131 - 133. doi:10.1002/ajmg.b.30568
    • Dunn L, Vandrovcova J, Malzer E, Lees AJ, Hardy J, de Silva R (2008). Investigation of tau gene-specific natural antisense transcript expression and splicing.
    • Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinisto L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L (2008). Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. ANN NEUROL, 64(3), 348 - 352. doi:10.1002/ana.21446
    • Camargos ST, Cardoso F, Momeni P, Gianetti JG, Lees A, Hardy J, Singleton A (2008). Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Movement Disorders, 23(2), 299 - 302. doi:10.1002/mds.21842
    • Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J (2008). Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases.. Mov Disord, 23(9), 1269 - 1273. doi:10.1002/mds.22078
    • Rohrer JD, Warren JD, Omar R, Mead S, Beck J, Revesz T, Holton J, Stevens JM, Al-Sarraj S, Pickering-Brown SM, Hardy J, Fox NC, Collinge J, Warrington EK, Rossor MN (2008). Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Archives of Neurology, 65(4), 506 - 513. doi:10.1001/archneur.65.4.506
    • Plun-Favreau H, Hardy J (2008). PINK1 in mitochondrial function.. Proceedings of the National Academy of Sciences of the United States of America, 105(32), 11041 - 11042. doi:10.1073/pnas.0805908105
    • Hardy J (2008). ALZHEIMER'S DISEASE: GENETICS TO PATHOGENESIS.

    2007

    • Matarin M, Brown WM, Scholz S, Simon-Sanchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Longefeld CD, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF (2007). A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. LANCET NEUROL, 6(5), 414 - 420. doi:10.1016/S1474-4422(07)70081-9
    • Hardy J (2007). Putting presenilins centre stage - Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO REPORTS, 8(2), 134 - 135. doi:10.1038/sj.embor.7400899
    • Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL (2007). A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. NEUROPATHOLOGY, 27(3), 228 - 232. doi:10.1111/j.1440-1789.2007.00766.x
    • Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, Marlowe L, Kaleem M, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, Craig DW, Pearson JV, Holmans P, Heward CB, Reiman EM, Stephan D, Hardy J (2007). A survey of genetic human cortical gene expression.. Nature Genetics, 39(12), 1494 - 1499. doi:10.1038/ng.2007.16
    • Wavrant-De Vrieze F, Compton D, Womick M, Arepalli S, Adighibe O, Li L, Perez-Tur J, Hardy J (2007). ABCA1 polymorphisms and Alzheimer's disease. NEUROSCIENCE LETTERS, 416(2), 180 - 183. doi:10.1016/j.neulet.2007.02.010
    • Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Jr BRH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, Sherman A, Mailman MD, Ostell J, Bruijn L, Cwik V, Rich SS, Singleton A, Refolo L, Andrews J, Zhang R, Conwit R, Keller MA, Grp ALSR (2007). Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery. PLOS ONE, 2(12), - . doi:10.1371/journal.pone.0001254
    • Fidani L, Clarimon J, Goulas A, Hatzitolios AI, Evans W, Tsirogianni E, Hardy J, Kotsis A (2007). Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population. EUROPEAN JOURNAL OF NEUROLOGY, 14(7), 745 - 749. doi:10.1111/j.1468-1331.2007.01767.x
    • Hardy J, Myers A (2007). Genetic variability in expression of proteins and the risk of sporadic neurologic diseases. NEUROLOGY, 68(9), 632 - 633. doi:10.1212/01.wnl.0000256793.58438.c4
    • De Ferrari GV, Papassotiropoulos A, Biechele T, De-Vrieze FW, Avila ME, Major MB, Myers A, Saez K, Henriquez JP, Zhao A, Wollmer MA, Nitsch RM, Hock C, Morris CM, Hardy J, Moon RT (2007). Common genetic variation within the Low-Density Lipoprotein Receptor-Related Protein 6 and late-onset Alzheimer's disease. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 104(22), 9434 - 9439. doi:10.1073/pnas.0603523104
    • Chen KW, Reiman EM, Alexander GE, Caselli RJ, Gerkin R, Bandy D, Domb A, Osborne D, Fox N, Crum WR, Saunders AM, Hardy J (2007). Correlations between apolipoprotein E epsilon 4 gene dose and whole brain atrophy rates.
    • van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJM, Forrest SM, Fisher EMC, Russell JT, Cai H, Singleton AB (2007). Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genetics, 3(6), 1076 - 1082. doi:10.1371/journal.pgen.0030108
    • Hardy J (2007). Does A beta 42 have a function related to blood homeostasis?. NEUROCHEMICAL RESEARCH, 32(4-5), 833 - 835. doi:10.1007/s11064-006-9221-9
    • Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Liang WS, Herbert RH, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, Kaleem M, Mastroeni D, Grover A, Heward CB, Ravid R, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Kukull W, Papassotiropoulos A, Stephan DA (2007). GAB2 alleles modify Alzheimer's risk in APOE epsilon 4 carriers. Neuron, 54(5), 713 - 720. doi:10.1016/j.neuron.2007.05.022
    • Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chio A, Singleton A, Hardy J, Traynor B (2007). Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. The Lancet Neurology, 6(4), 322 - 328. doi:10.1016/S1474-4422(07)70037-6
    • Hamshere ML, Holmans PA, Avramopoulos D, Bassett SS, Blacker D, Bertram L, Wiener H, Rochberg N, Tanzi RE, Myers A, Wavrant-De Vrieze F, Go R, Fallin D, Lovestone S, Hardy J, Goate A, O'Donovan M, Williams J, Owen MJ (2007). Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. Human Molecular Genetics, 16(22), 2703 - 2712. doi:10.1093/hmg/ddm224
    • Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A (2007). Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. HUM MOL GENET, 16(1), 1 - 14. doi:10.1093/hmg/ddl436
    • Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SAM, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E (2007). Heterogeneity within a large kindred with frontotemporal dementia - A novel progranulin mutation. NEUROLOGY, 69(2), 140 - 147. doi:10.1212/01.wnl.0000265220.64396.b4
    • Hollingworth P, Hamshere ML, Holmans PA, O'Donovan MC, Sims R, Powell J, Lovestone S, Myers A, DeVrieze FW, Hardy J, Goate A, Owen M, Williams J (2007). Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 144B(7), 841 - 848. doi:10.1002/ajmg.b.30515
    • Hardy J, Singleton A (2007). Reporting and interpretation of genetic variants in cases and controls. NEUROLOGY, 69(1), 111 - 112. doi:10.1212/01.wnl.0000265059.56575.a6
    • Brown AM, Gordon D, Lee H, Vrieze FW-D, Cellini E, Bagnoli S, Nacmias B, Sorbi S, Hardy J, Blass JP (2007). Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations. NEUROCHEMICAL RESEARCH, 32(4-5), 857 - 869. doi:10.1007/s11064-006-9235-3
    • Litvan I, Halliday G, Hallett M, Goetz CG, Rocca W, Duyckaerts C, Ben-Shlomo Y, Dickson DW, Lang AE, Chesselet M-F, Langston WJ, Di Monte DA, Gasser T, Hagg T, Hardy J, Jenner P, Melamed E, Myers RH, Jr PD, Price DL (2007). The etiopathogenesis of Parkinson disease and suggestions for future research. Part I. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 66(4), 251 - 257. doi:10.1097/nen.0b013e3180415e42
    • Litvan I, Chesselet M-F, Gasser T, Di Monte DA, Jr PD, Hagg T, Hardy J, Jenner P, Myers RH, Price D, Hallett M, Langston WJ, Lang AE, Halliday G, Rocca W, Duyckaerts C, Dickson DW, Ben-Shlomo Y, Goetz CG, Melamed E (2007). The etiopathogenesis of Parkinson disease and suggestions for future research. Part II. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 66(5), 329 - 336. doi:10.1097/nen.0b013e318053716a
    • Low NC, Hardy J (2007). What is a schizophrenic mouse?. Neuron, 54(3), 348 - 349.
    • Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J (2007). The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiology of Disease, 25(3), 561 - 570.
    • Wiklund PG, Brown WM, Brott TG, Stegmayr B, Jr BRD, Nilsson-Ardnor S, Hardy JA, Kissela BM, Singleton A, Holmberg D, Rich SS, Meschia JF (2007). Lack of aggregation of ischemic stroke subtypes within affected sibling pairs. NEUROLOGY, 68(6), 427 - 431. doi:10.1212/01.wnl.0000252955.17126.6a
    • Goldstein DS, Imrich R, Peckham E, Holmes C, Lopez G, Crews C, Hardy J, Singleton A, Hallett M (2007). Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation. NEUROLOGY, 69(16), 1580 - 1584. doi:10.1212/01.wnl.0000268696.57912.64
    • Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chio A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, Hutton M, Gass J, Cannon A, Rademakers R, Singleton AB, Hardiman O, Rothstein J, Hardy J, Traynor BJ (2007). Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 78(7), 754 - 756. doi:10.1136/jnnp.2006.109553
    • Low NCP, Hardy J (2007). Psychiatric disorder criteria and their application to research in different racial groups. BMC PSYCHIATRY, 7, - . doi:10.1186/1471-244X-7-1
    • Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, Zismann VL, Beach TG, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Walker DG, Ravid R, Heward CB, Rogers J, Papassotiropoulos A, Reiman EM, Hardy J, Stephan DA (2007). A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. JOURNAL OF CLINICAL PSYCHIATRY, 68(4), 613 - 618.

    2006

    • Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR (2006). A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurology, 6, 47 - . doi:10.1186/1471-2377-6-47
    • Hardy J (2006). Progress in deciding a therapeutic approach to PSP.
    • Malkani R, D'Souza I, Gwinn-Hardy K, Scheenberg GD, Hardya J, Momeni P (2006). A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. NEUROBIOLOGY OF DISEASE, 22(2), 401 - 403. doi:10.1016/j.nbd.2005.12.001
    • Edwards-Lee T, Wen J, Bell J, Hardy J, Chung J, Momeni P (2006). A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. NEUROSCIENCE LETTERS, 398(3), 251 - 252. doi:10.1016/j.neulet.2006.01.006
    • Grupe A, Li YH, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JSK, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Vrieze FW, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A (2006). A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. AMERICAN JOURNAL OF HUMAN GENETICS, 78(1), 78 - 88. doi:10.1086/498851
    • Hardy J, Cullen K (2006). Amyloid at the blood vessel wall. NATURE MEDICINE, 12(7), 756 - 757. doi:10.1038/nm0706-756
    • Hardy J (2006). Amyloid double trouble. NATURE GENETICS, 38(1), 11 - 12. doi:10.1038/ng0106-11
    • Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chio A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ (2006). Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC NEUROLOGY, 6, - . doi:10.1186/1471-2377-6-44
    • Fung HC, Chen CM, Hardy J, Singleton AB, Lee-Chen GJ, Wu YR (2006). Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. NEUROSCI LETT, 394(1), 33 - 36. doi:10.1016/j.neulet.2005.10.005
    • Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C (2006). Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.. BMC Neurol, 6, 24 - . doi:10.1186/1471-2377-6-24
    • Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V, Hellstrom O, Chen CM, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou GM, Hardy J, Singleton AB (2006). Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts. NEURODEGENER DIS, 3(6), 327 - 333. doi:10.1159/000097301
    • Fidani L, Kalinderi K, Bostantjopoulou S, Clarimon J, Goulas A, Katsarou Z, Hardy J, Kotsis A (2006). Association of the Tau haplotype with Parkinson's disease in the Greek population. MOVEMENT DISORDERS, 21(7), 1036 - 1039. doi:10.1002/mds.20864
    • Hardy J (2006). Bad luck: An unappreciated limitation in the interpretation of twin studies. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 141B(6), 681 - 681. doi:10.1002/ajmg.b.30353
    • Huey ED, Grafman J, Wassermann EM, Pietrini P, Tierney MC, Ghetti B, Spina S, Baker M, Hutton M, Elder JW, Berger SL, Heflin KA, Hardy J, Momeni P (2006). Characteristics of frontotemporal dementia patients with a progranulin mutation. ANNALS OF NEUROLOGY, 60(3), 374 - 380. doi:10.1002/ana.20969
    • Adighibe O, Arepalli S, Duckworth J, Hardy J, Wavrant-De Vrieze F (2006). Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease. NEUROBIOLOGY OF AGING, 27(10), 1431 - 1434. doi:10.1016/j.neurobiolaging.2005.08.010
    • Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, George-Hyslop PS, Hardy J (2006). Genetic variability in CHMP2B and frontotemporal dementia. NEURODEGENERATIVE DISEASES, 3(3), 129 - 133. doi:10.1159/000094771
    • Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A (2006). Genetics of Parkinson's disease and parkinsonism. ANNALS OF NEUROLOGY, 60(4), 389 - 398. doi:10.1002/ana.21022
    • Cookson MR, Hardy J (2006). Clinical implications of basic research: The persistence of memory. NEW ENGLAND JOURNAL OF MEDICINE, 355(25), 2697 - 2698. doi:10.1056/NEJMcibr065999
    • Merikangas KR, Low NCP, Hardy J (2006). Commentary: Understanding sources of complexity in chronic diseases - the importance of integration of genetics and epidemiology. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 35(3), 590 - 592. doi:10.1093/ije/dyl007
    • Clarimon J, Scholz S, Fung HC, Hardy J, Eerola J, Hellstrom O, Chen CM, Wu YR, Tienari PJ, Singleton A (2006). Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. AMERICAN JOURNAL OF HUMAN GENETICS, 78(6), 1082 - 1084. doi:10.1086/504727
    • Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JSK, Smemo S, Hinrichs A, Tacey K, Toombs TA, Kwok S, Catanese J, White TJ, Maxwell TJ, Hollingworth P, Abraham R, Rubinsztein DC, Brayne C, Wavrant-De Vrieze F, Hardy J, O'Donovan M, Lovestone S, Morris JC, Thal LJ, Owen M, Williams J, Goate A (2006). DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. HUMAN MOLECULAR GENETICS, 15(17), 2560 - 2568. doi:10.1093/hmg/ddl178
    • Hardy J, Momeni P, Traynor BJ (2006). Frontal temporal dementia: dissecting the aetiology and pathogenesis. BRAIN, 129, 830 - 831. doi:10.1093/brain/awl035
    • Fung HC, Scholz S, Matarin M, Simon-Sanchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodriguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A (2006). Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. The Lancet Neurology, 5(11), 911 - 916. doi:10.1016/S1474-4422(06)70578-6
    • Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG (2006). Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. BRAIN, 129, 2318 - 2331. doi:10.1093/brain/awl120
    • Marlowe L, Peila R, Benke KS, Hardy J, White LR, Launer LJ, Myers A (2006). Insulin-degrading enzyme haplotypes affect insulin levels but not dementia risk. NEURODEGENERATIVE DISEASES, 3(6), 320 - 326. doi:10.1159/000097300
    • Seal JL, Gornick MC, Gogtay N, Shaw P, Greenstein DK, Coffey M, Gochman PA, Stromberg T, Chen Z, Merriman B, Nelson SF, Brooks J, Arepalli S, Wavrant-De Vrieze F, Hardy J, Rapoport JL, Addington AM (2006). Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia. JOURNAL OF MEDICAL GENETICS, 43(11), 887 - 892. doi:10.1136/jmg.2006.043380
    • Momeni P, Bell J, Duckworth J, Hutton M, Mann D, Brown SP, Hardy J (2006). Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B. NEUROSCIENCE LETTERS, 410(2), 77 - 79. doi:10.1016/j.neulet.2006.06.065
    • Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J (2006). Tangle Diseases and the tau haplotypes. Alzheimer Disease and Associated Disorders, 20(1), 60 - 62.
    • Hardy J, Orr H (2006). The genetics of neurodegenerative diseases. J NEUROCHEM, 97(6), 1690 - 1699. doi:10.1111/j.1471-4159.2006.03979.x
    • Smemo S, Nowotny P, Hinrichs AL, Kauwe JSK, Cherny S, Erickson K, Myers AJ, Kaleem M, Marlowe L, Gibson AM, Hollingworth P, O'Donovan MC, Morris CM, Holmans P, Lovestone S, Morris JC, Thal L, Li YH, Grupe A, Hardy J, Owen MJ, Williams J, Goate A (2006). Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. ANNALS OF NEUROLOGY, 59(1), 21 - 26. doi:10.1002/ana.20673
    • Fung HC, Chen CM, Hardy J, Hernandez D, Singleton A, Wu YR (2006). Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. MOVEMENT DISORD, 21(6), 880 - 881. doi:10.1002/mds.20814
    • Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH, Cleveland DW (2006). Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. NEUROBIOLOGY OF DISEASE, 21(1), 102 - 109. doi:10.1016/j.nbd.2005.06.016
    • Hardy J (2006). No definitive evidence for a role for the environment in the etiology of Parkinson's disease. MOVEMENT DISORDERS, 21(10), 1790 - 1791. doi:10.1002/mds.21067
    • Masellis M, Momeni P, Meschino W, Jr HR, Elder J, Sato C, Liang Y, St George-Hyslop P, Hardy J, Bilbao J, Black S, Rogaeva E (2006). Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. BRAIN, 129, 3115 - 3123. doi:10.1093/brain/awl276
    • Hardy J, Scholz S, Evans W, Goldfarb L, Singleton A (2006). Prion genotypes in Central America suggest selection for the V129 allele. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 141B(1), 33 - 35. doi:10.1002/ajmg.b.30248
    • Hardy J (2006). A hundred years of Alzheimer's disease research. NEURON, 52(1), 3 - 13. doi:10.1016/j.neuron.2006.09.016

    2005

    • McGowan E, Pickford F, Kim J, Onstead L, Eriksen J, Yu C, Skipper L, Murphy MP, Beard J, Das P, Jansen K, DeLucia M, Lin WL, Dolios G, Wang R, Eckman CB, Dickson DW, Hutton M, Hardy J, Golde T (2005). A beta 42 is essential for parenchymal and vascular amyloid deposition in mice. NEURON, 47(2), 191 - 199. doi:10.1016/j.neuron.2005.06.030
    • Meschia JF, Brott TG, Brown RD, Crook R, Worrall BB, Kissela B, Brown WM, Rich SS, Case LD, Evans EW, Hague S, Singleton A, Hardy J, Investigators SWISS, Investigators ISGS, Investigators MSGD (2005). Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. ANNALS OF NEUROLOGY, 58(3), 351 - 361. doi:10.1002/ana.20585
    • Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Betard C, Singleton A, Hardy J, De MG, Bonifati V, Oostra BA, Gasser T, Wood NW, Durr A, French Parkinson's Disease Genetics Study Group ECOGSIPD (2005). Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 136(1), 72 - 74.
    • Martinez M, Brice A, Dürr A, Vaughan JR, Zimprich A, Gasser T, Breteler MMB, Meco G, Bonifati V, Filla A, De Michele G, Farrer MJ, Bétard C, Singleton A, Hardy J, Oostra BA, Wood NW, Nicholl D, Agid Y, Müller-Myhsok B, Harhangi S, Fabrizio E, Vanacore N, Volpe G, Bonnet A-M, Borg M, Broussolle E, Damier P, Destée A, Durif F, Feingold J, Fénelon G, Lohmann E, Penet C, Pollak P, Rascol O, Tison F, Tranchant C, Vérin M, Viallet F, Vidailhet M, Warter JM (2005). Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. American Journal of Medical Genetics - Neuropsychiatric Genetics, 136 B(1), 72 - 74. doi:10.1002/ajmg.b.30196
    • Nowotny P, Hinrichs AL, Smemo S, Kauwe JSK, Maxwell T, Holmans P, Hamshere M, Turic D, Jehu L, Hollingworth P, Moore P, Bryden L, Myers A, Doil LM, Tacey KM, Gibson AM, McKeith IG, Perry RH, Morris CM, Thal L, Morris JC, O'Donovan MC, Lovestone S, Grupe A, Hardy J, Owen MJ, Williams J, Goate A (2005). Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 136B(1), 62 - 68. doi:10.1002/ajmg.b.30186
    • Lahiri DK, Ge YW, Maloney B, Wavrant-De Vrieze F, Hardy J (2005). Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease. NEUROBIOLOGY OF AGING, 26(10), 1329 - 1341. doi:10.1016/j.neurobiolaging.2004.11.005
    • McInerney-Leo A, Hadley DW, Gwinn-Hardy K, Hardy J (2005). Genetic testing in Parkinson's disease. MOVEMENT DISORDERS, 20(1), 1 - 10. doi:10.1002/mds.20316
    • Holmans P, Hamshere M, Hollingworth P, Rice F, Tunstall N, Jones S, Moore P, Wavrant DeVrieze F, Myers A, Crook R, Compton D, Marshall H, Meyer D, Shears S, Booth J, Ramic D, Williams N, Norton N, Abraham R, Kehoe P, Williams H, Rudrasingham V, O'Donovan M, Jones L, Hardy J, Goate A, Lovestone S, Owen M, Williams J (2005). Genome screen for loci influencing age at onset and rate of decline in late onset Alzheimer's disease.. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 135, 24 - 32.
    • Myllykangas L, Wavrant-De Vrieze F, Polvikoski T, Notkola IL, Sulkava R, Niinisto L, Edland SD, Arepalli S, Adighibe O, Compton D, Hardy J, Haltia M, Tienari PJ (2005). Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: A two-stage study. JOURNAL OF THE NEUROLOGICAL SCIENCES, 236(1-2), 17 - 24. doi:10.1016/j.jns.2005.04.008
    • Meschia JF, Brott TG, Brown RD, Kissela BM, Hardy JA, Brown WM, Rich SS, Inv SISS (2005). Correlation of proband and sibling stroke latency: The SWISS Study. NEUROLOGY, 64(6), 1061 - 1063.
    • Reiman EM, Chen KW, Alexander GE, Caselli RJ, Bandy D, Osborne D, Saunders AM, Hardy J (2005). Correlations between apolipoprotein E epsilon 4 gene dose and brain-imaging measurements of regional hypometabolism. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 102(23), 8299 - 8302. doi:10.1073/pnas.0500579102
    • Clarimon J, Johnson J, Dogu O, Horta W, Khan N, Lees AJ, Hardy J, Singleton A (2005). Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 133(1), 120 - 123.
    • Kumar-Singh S, Pirici D, McGowan E, Serneels S, Ceuterick C, Hardy J, Duff K, Dickson D, Van Broeckhoven C (2005). Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls. AMERICAN JOURNAL OF PATHOLOGY, 167(2), 527 - 543. doi:10.1016/S0002-9440(10)62995-1
    • McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, Costa D, Del Ser T, Dubois B, Galasko D, Gauthier S, Goetz CG, Gomez-Tortosa E, Halliday G, Hansen LA, Hardy J, Iwatsubo T, Kalaria RN, Kaufer D, Kenny RA, Korczyn A, Kosaka K, Lee VMY, Lees A, Litvan I, Londos E, Lopez OL, Minoshima S, Mizuno Y, Molina JA, Mukaetova-Ladinska EB, Pasquier F, Perry RH, Schulz JB, Trojanowski JQ, Yamada M, Consortium DLB (2005). Diagnosis and management of dementia with Lewy bodies - Third report of the DLB consortium. NEUROLOGY, 65(12), 1863 - 1872.
    • Hardy J, Pittman A, Myers A, Gwinn-Hardy K, Fung HC, de Silva R, Hutton M, Duckworth J (2005). Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens. Biochemical Society Transactions, 33(4), 582 - 585.
    • Hardy J (2005). Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: 'permissive templating' as a general mechanism underlying neurodegeneration.
    • Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A (2005). G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.. Mov Disord, 20(12), 1653 - 1655. doi:10.1002/mds.20682
    • Li YH, Hollingworth P, Moore P, Foy C, Archer N, Powell J, Nowotny P, Holmans P, O'Donovan M, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Lau K, Cantanese J, Sninsky J, Hardy J, Thal L, Morris JC, Goate A, Lovestone S, Owen M, Williams J, Grupe A (2005). Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. HUMAN MUTATION, 25(3), 270 - 277. doi:10.1002/humu.20138
    • Rezai-Zadeh K, Shytle D, Sun N, Mori T, Hou HY, Jeanniton D, Ehrhart J, Townsend K, Zeng J, Morgan D, Hardy J, Town T, Tan J (2005). Green tea epigallocatechin-3-gallate (EGCG) modulates amyloid precursor protein cleavage and reduces cerebral amyloidosis in Alzheimer transgenic mice. JOURNAL OF NEUROSCIENCE, 25(38), 8807 - 8814. doi:10.1523/JNEUROSCI.1521-05.2005
    • Bobb AJ, Addington AM, Sidransky E, Gornick MC, Lerch JP, Greenstein DK, Clasen LS, Sharp WS, Inoff-Germain G, Vrieze FWD, Arcos-Burgos M, Straub RE, Hardy JA, Castellanos FX, Rapoport JL (2005). Support for association between ADHD and two candidate genes: NET1 and DRD1. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 134B(1), 67 - 72. doi:10.1002/ajmg.b.30142
    • Momeni P, Lu CS, Chou YHW, Chang HC, Chen RS, Chen CC, Hsu JT, Singleton A, Hardy J (2005). Taiwanese cases of SCA2 are derived from a single founder. MOVEMENT DISORDERS, 20(12), 1633 - 1636. doi:10.1002/mds.20638
    • Fung HC, Evans J, Evans W, Duckworth J, Pittman A, de Silva R, Myers A, Hardy J (2005). The architecture of the tau haplotype block in different ethnicities. Neuroscience Letters, 377(2), 81 - 84.
    • Li Y, Rowland C, Tacey K, Catanese J, Sninsky J, Hardy J, Powell J, Lovestone S, Morris JC, Thal L, Goate A, Owen M, Williams J, Grupe A (2005). The BDNF val66met polymorphism is not associated with late onset Alzheimer's disease in three case-control samples. MOLECULAR PSYCHIATRY, 10(9), 809 - 810. doi:10.1038/sj.mp.4001702
    • Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A (2005). The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.. Neurosci Lett, 389(3), 137 - 139. doi:10.1016/j.neulet.2005.07.044
    • Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J (2005). The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Human Molecular Genetics, 14(16), 2399 - 2404.
    • Myers AJ, Kaleem M, Marlowe L, Fung HC, Duckworth J, Leung D, Hardy J, Pittman AM, Lees AJ, de Silva R, Gibson A, Morris CM (2005). The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Human Molecular Genetics, 14(16), 2399 - 2404. doi:10.1093/hmg/ddi241
    • Myers AJ, Pittman A, Fung HC, Kaleem M, Marlowe L, Pittman A, Duckworth J, Evans J, Evans J, Gibson A, Morris CM, Lees A, de Silva R, Hardy JA (2005). The H1c haplotype of the MAPT locus is associated with autopsy confirmed late onset Alzheimer's disease.
    • Clarimon J, Asgeirsson H, Singleton A, Jakobsson F, Hjaltason H, Hardy J, Sveinbjornsdottir S (2005). Torsin A haplotype predisposes to idiopathic dystonia. ANNALS OF NEUROLOGY, 57(5), 765 - 767. doi:10.1002/ana.20485
    • Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O (2005). Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. NEUROSCIENCE LETTERS, 374(3), 189 - 191. doi:10.1016/j.neulet.2004.10.053
    • Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R (2005). Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. Journal of Medical Genetics, 42(11), 837 - 846.
    • Hardy J, Lees AJ (2005). Parkinson's disease: a broken nosology. Movement Disorders, 20(Suppl.12), S2 - S4.
    • Edwards-Lee T, Ringman JM, Chung J, Werner J, Morgan A, Hyslop PS, Thompson P, Dutton R, Mlikotic A, Rogaeva E, Hardy J (2005). An African American family with earlyonset Alzheimer disease and an APP (T714I) mutation. NEUROLOGY, 64(2), 377 - 379.

    2004

    • Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Ozekmekci S, Sevim S, Gwinn-Hardy K, Singleton A (2004). A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. MOVEMENT DISORDERS, 19(7), 812 - 816. doi:10.1002/mds.20028
    • Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Femandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ (2004). Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). MOVEMENT DISORDERS, 19(6), 622 - 629. doi:10.1002/mds.20074
    • Busby V, Goossens S, Nowotny P, Hamilton G, Smemo S, Harold D, Turic D, Jehu L, Myers A, Womick M, Woo D, Compton D, Doil LM, Tacey KM, Lau KF, Al-Saraj S, Killick R, Pickering-Brown S, Moore P, Hollingworth P, Archer N, Foy C, Walter S, Lendon C, Iwatsubo T, Morris JC, Norton J, Mann D, Janssens B, Hardy J, O'Donovan M, Jones L, Williams J, Holmans P, Owen MJ, Grupe A, Powell J, van Hengel J, Goate A, Van Roy F, Lovestone S (2004). alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. NEUROMOLECULAR MEDICINE, 5(2), 133 - 146. doi:10.1385/NMM:5:2:133
    • Fidani L, Goulas A, Crook R, Petersen RC, Tangalos E, Kotsis A, Hardy J (2004). An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease. Neuroscience Letters, 357(2), 152 - 154. doi:10.1016/j.neulet.2003.11.071
    • Clark LN, Afridi S, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Singleton A, De-Vrieze FW, Hardy J, Mayeux R, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K (2004). Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. MOVEMENT DISORDERS, 19(7), 796 - 800. doi:10.1002/mds.20131
    • Hanson M, Honour M, Singleton A, Crawley A, Singleton A, Hardy J, Gwinn-Hardy K (2004). Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. JOURNAL OF NEUROLOGY, 251(11), 1398 - 1401. doi:10.1007/s00415-004-0552-7
    • Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB (2004). Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. ARCHIVES OF NEUROLOGY, 61(12), 1898 - 1904. doi:10.1001/archneur.61.12.1898
    • Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS (2004). Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. BRAIN, 127, 768 - 772. doi:10.1093/brain/awh081
    • Li YH, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Schrodi S, Leong D, Lau K, Catanese J, Sninsky J, Nowotny P, Holmans P, Hardy J, Powell J, Lovestone S, Thal L, Owen M, Williams J, Goate A, Grupe A (2004). Association of ABCA1 with late-onset Alzheimer's disease is not observed in a case-control study. NEUROSCIENCE LETTERS, 366(3), 268 - 271. doi:10.1016/j.neulet.2004.05.047
    • Li Y, Nowotny P, Holmans P, Smemo S, Kauwe JSK, Hinrichs AL, Tacey K, Doil L, van Luchene R, Garcia V, Rowland C, Schrodi S, Leong D, Gogic G, Chan J, Cravchik A, Ross D, Lau K, Kwok S, Chang SY, Catanese J, Sninsky J, White TJ, Hardy J, Powell J, Lovestone S, Morris JC, Thal L, Owen M, Williams J, Goate A, Grupe A (2004). Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 101(44), 15688 - 15693. doi:10.1073/pnas.0403535101
    • Brown AM, Gordon D, Lee H, Caudy M, Hardy J, Haroutunian V, Blass JP (2004). Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 131B(1), 60 - 66. doi:10.1002/ajmg.b.30008
    • Petrucelli L, Dickson D, Kehoe K, Taylor J, Snyder H, Grover A, De Lucia M, McGowan E, Lewis J, Prihar G, Kim J, Dillmann WH, Browne SE, Hall A, Voellmy R, Tsuboi Y, Dawson TM, Wolozin B, Hardy J, Hutton M (2004). CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. HUMAN MOLECULAR GENETICS, 13(7), 703 - 714. doi:10.1093/hmg/ddh083
    • Morris HR, Steele JC, Crook R, Wavrant-De Vrieze F, Onstead-Cardinale L, Gwinn-Hardy K, Wood NW, Farrer M, Lees AJ, McGeer PL, Siddique T, Hardy J, Perez-Tur J (2004). Genome-wide analysis of the parkinsonism-dementia complex of Guam.. Archives of Neurology, 61(12), 1889 - 1897.
    • Busby J, O'Brien KK, Gibson AM, McKeith IG, Perry RH, Hardy JA, Singleton AB, Morris CM (2004). Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene. NEUROGENETICS, 5(4), 251 - 252. doi:10.1007/s10048-004-0188-x
    • Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M (2004). Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 125(1), 79 - 82. doi:10.1002/ajmg.b.20083
    • Reiman EM, Chen KW, Alexander GE, Caselli RJ, Bandy D, Osborne D, Saunders AM, Hardy J (2004). Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 101(1), 284 - 289. doi:10.1073/pnas.2635903100
    • Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Betard C, Hardy J, De Michele G, Bonifati V, Oostra B, Wood NW, Durr A (2004). Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. Journal of Medical Genetics, 41(12), 900 - 907.
    • Hardy J, Langston JW (2004). How many pathways are there to nigral death?. ANNALS OF NEUROLOGY, 56(3), 316 - 318. doi:10.1002/ana.20257
    • Evidente VGH, Esteban RP, Hernandez JL, Natividad FF, Advincula J, Gwinn-Hardy K, Hardy J, Singleton A, Singleton A (2004). Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. PARKINSONISM & RELATED DISORDERS, 10(7), 407 - 410. doi:10.1016/j.parkreldis.2004.04.011
    • Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB (2004). SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. NEUROLOGY, 63(3), 554 - 556.
    • Bandopadhyay R, Kingsbury AE, Cookson MR, Reid AR, Evans IM, Hope AD, Pittman AM, Lashley T, Canet-Aviles R, Miller DW, McLendon C, Strand C, Leonard AJ, Abou-Sleiman PM, Healy DG, Ariga H, Wood NW, de Silva R, Revesz T, Hardy JA, Lees AJ (2004). The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.. Brain, 127(2), 420 - 430. doi:10.1093/brain/awh054
    • Singleton A, Myers A, Hardy J (2004). The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. HUMAN MOLECULAR GENETICS, 13, R123 - R126. doi:10.1093/hmg/ddh093
    • Zimprich A, Muller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T (2004). The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval. AMERICAN JOURNAL OF HUMAN GENETICS, 74(1), 11 - 19. doi:10.1086/380647
    • Pittman A, Myers AJ, Duckworth J, Bryden L, Hanson M, Abou-Sleiman P, Wood NW, Hardy J, Lees A, de Silva R (2004). The structure of the tau haplotype in controls and in progressive supranuclear palsy. Human Molecular Genetics, 13(12), 1267 - 1274. doi:10.1093/hmg/ddh138
    • Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, de Silva R, Myers A, Vrieze FW, Singleton A, Hardy J (2004). The tau H2 haplotype is almost exclusively Caucasian in origin. Neuroscience Letters, 369(3), 183 - 185.
    • Hardy J (2004). The uncertain anatomy of Alzheimer's disease. NEUROBIOLOGY OF AGING, 25(6), 719 - 720. doi:10.1016/j.neurobiolaging.2003.12.012
    • Hardy J (2004). Toward Alzheimer therapies based on genetic knowledge. ANNUAL REVIEW OF MEDICINE, 55, 15 - 25. doi:10.1146/annurev.med.55.091902.103607
    • Myers AJ, Marshall H, Holmans P, Compton D, Crook RJP, Mander AP, Nowotny P, Smemo S, Dunstan M, Jehu L, Wang JC, Hamshere M, Morris JC, Norton J, Chakraventy S, Tunstall N, Lovestone S, Petersen R, O'Donovan M, Jones L, Williams J, Owen MJ, John HY, Goate A (2004). Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 124B(1), 29 - 37. doi:10.1002/ajmg.b.20036
    • Myers AJ, Pittman A, Duckworth J, Fung P, Evans J, Evans W, Bryden L, Hanson M, Abou-Sleiman P, Wood NW, Lees A, de Silva R, Hardy JA (2004). Investigation of the microtubule associated protein tau locus.
    • Hardy J (2004). Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer's disease in vivo? For. EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING, 31(11), 1539 - 1540. doi:10.1007/s00259-004-1676-9
    • Winblad B, Palmer K, Kivipelto M, Jelic V, Fratiglioni L, Wahlund LO, Nordberg A, Backman L, Albert M, Almkvist O, Arai H, Basun H, Blennow K, de Leon M, DeCarli C, Erkinjuntti T, Giacobini E, Graff C, Hardy J, Jack C, Jorm A, Ritchie K, van Duijn C, Visser P, Petersen RC (2004). Mild cognitive impairment - beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment. doi:10.1111/j.1365-2796.2004.01380.x
    • Coleman P, Kurlan R, Crook R, Werner J, Hardy J (2004). New presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. NEUROSCIENCE LETTERS, 364(3), 139 - 140. doi:10.1016/j.neulet.2004.04.030
    • Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, Hyslop PHSG, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, Singleton A (2004). No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. NEUROSCIENCE LETTERS, 363(2), 99 - 101. doi:10.1016/j.neulet.2004.03.070
    • Wiley J, Lynch T, Lincoln S, Skipper L, Hulihan M, Gosal D, Bisceglio G, Kachergus J, Hardy J, Farrer MJ (2004). Parkinson's disease in Ireland: Clinical presentation and genetic heterogeneity in patients with parkin mutations. MOVEMENT DISORDERS, 19(6), 677 - 681. doi:10.1002/mds.10703
    • Hardy J, Myers A, Wavrant-De Vrieze F (2004). Problems and Solutions in the Genetic Analysis of Late-Onset Alzheimer's Disease. NEURODEGENERATIVE DISEASES, 1(4-5), 213 - 217. doi:10.1159/000080988
    • Pifl C, Khorchide M, Kattinger A, Reither H, Hardy J, Hornykiewicz O (2004). alpha-Synuclein selectively increases manganese-induced viability loss in SK-N-MC neuroblastoma cells expressing the human dopamine transporter. NEUROSCIENCE LETTERS, 354(1), 34 - 37. doi:10.1016/j.neulet.2003.09.064

    2003

    • El-Agnaf OMA, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DMA, Ikeda S, Cookson MR, Hardy J, Allsop D (2003). alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB JOURNAL, 17(11), 1945 - +. doi:10.1096/fj.03-0098fje
    • Rippon GA, Crook R, Baker M, Halvorsen E, Chin S, Hutton M, Houlden H, Hardy J, Lynch T (2003). Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. Archives of Neurology, 60(6), 884 - 888.
    • Hardy J (2003). Alzheimer's disease: genetic evidence points to a single pathogenesis. Annals of Neurology, 54(2), 143 - 144.
    • Marlow L, Canet RM, Haugabook SJ, Hardy JA, Lahiri DK, Sambamurti K (2003). APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity. Biochemical and Biophysical Research Communications, 305(3), 502 - 509.
    • Eerola J, Hernandez D, Launes J, Hellstrom O, Hague S, Gulick C, Johnson J, Peuralinna T, Hardy J, Tienari PJ, Singleton AB (2003). Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD. NEUROLOGY, 61(7), 1000 - 1002.
    • Frank RA, Galasko D, Hampel H, Hardy J, de Leon MJ, Mehta PD, Rogers J, Siemers E, Trojanowski JQ (2003). Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiology of Aging, 24(4), 521 - 536.
    • Maraganore DM, Farrer MJ, Lesnick TG, de Andrade M, Bower JH, Hernandez D, Hardy JA, Rocca WA (2003). Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. MOVEMENT DISORDERS, 18(11), 1233 - 1239. doi:10.1002/mds.10547
    • Maraganore DM, de Andrade M, Lesnick TG, Farrer MJ, Bower JH, Hardy JA, Rocca WA (2003). Complex interactions in Parkinson's disease: a two-phased approach. Movement Disorders, 18(6), 631 - 636.
    • Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW (2003). Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology, 61(10), 1423 - 1426.
    • Baptista MJ, O'Farrell C, Daya S, Ahmad R, Miller DW, Hardy J, Farrer MJ, Cookson MR (2003). Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines. Journal of Neurochemistry, 85(4), 957 - 968.
    • Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003). Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Annals of Neurology, 54(2), 271 - 274.
    • Hardy J, Singleton A, Gwinn-Hardy K (2003). Ethnic differences and disease phenotypes. Science, 300(5620), 739 - 740.
    • Pickford F, Onstead L, Camacho-Prihar C, Hardy J, McGowan E (2003). Expression of mBRI2 in mice. Neuroscience Letters, 338(2), 95 - 98.
    • Hardy J, Cookson MR, Singleton A (2003). Genes and parkinsonism. The Lancet Neurology, 2(4), 221 - 228.
    • Hardy J (2003). Impact of genetic analysis on Parkinson's disease research. doi:10.1002/mds.10569
    • Schulze TG, Hardy J, McMahon FJ (2003). Inconsistent designs of association studies: a missed opportunity. MOLECULAR PSYCHIATRY, 8(9), 770 - 772. doi:10.1038/sj.mp.4001329
    • Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M (2003). SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders, 18(4), 425 - 429.
    • Harold D, Peirce T, Moskvina V, Myers A, Jones S, Hollingworth P, Moore P, Lovestone S, Powell J, Foy C, Archer N, Walter S, Edmonson A, McIlroy S, Craig D, Passmore PA, Goate A, Hardy J, O'Donovan M, Williams J, Liddell M, Owen MJ, Jones L (2003). Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Human Genetics, 113(3), 258 - 267.
    • Hardy J (2003). The relationship between amyloid and tau. Journal of Molecular Neuroscience, 20(2), 203 - 206.
    • Hardy J (2003). The relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease. Annals of the New York Academy of Sciences, 991, 167 - 170.
    • Tan LC, Tanner CM, Chen R, Chan P, Farrer M, Hardy J, Langston JW (2003). Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation. Movement Disorders, 18(7), 758 - 763.
    • Baptista MJ, O'Farrell C, Hardy J, Cookson MR (2003). Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA. Neuroscience Letters, 343(1), 5 - 8.
    • Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A (2003). Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism and Related Disorders, 9(6), 317 - 320.
    • Lincoln SJ, Maraganore DM, Lesnick TG, Bounds R, de Andrade M, Bower JH, Hardy JA, Farrer MJ (2003). Parkin variants in north American Parkinson's disease: Cases and controls. MOVEMENT DISORDERS, 18(11), 1306 - 1311. doi:10.1002/mds.10601
    • Lincoln S, Wiley J, Lynch T, Langston JW, Chen R, Lang A, Rogaeva E, Sa DS, Munhoz RP, Harris J, Marder K, Klein C, Bisceglio G, Hussey J, West A, Hulihan M, Hardy J, Farrer M (2003). Parkin-proven disease: common founders but divergent phenotypes. Neurology, 60(10), 1605 - 1610.
    • Morris CM, O'Brien KK, Gibson AM, Hardy JA, Singleton AB (2003). Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. NEUROSCIENCE LETTERS, 352(2), 151 - 153. doi:10.1016/S0304-3940(03)01030-9
    • Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K (2003). alpha-Synuclein locus triplication causes Parkinson's disease. Science, 302(5646), 841 - . doi:10.1126/science.1090278

    2002

    • Walker RH, Friedman J, Wiener J, Hobler R, Gwinn-Hardy K, Adam A, DeWolfe J, Gibbs R, Baker M, Farrer M, Hutton M, Hardy J (2002). A family with a tau P301L mutation presenting with parkinsonism. PARKINSONISM & RELATED DISORDERS, 9(2), 121 - 123. doi:10.1016/S1353-8020(02)00003-2
    • Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, Singleton A, Hogg M, Younkin L, Younkin SG, Hardy J, Hutton M, Boeve BF, Tang-Wai D, Golde TE (2002). A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.. Neurobiol Dis, 9(2), 269 - 273. doi:10.1006/nbdi.2001.0473
    • Goulas A, Fidani L, Kotsis A, Mirtsou V, Petersen RC, Tangalos E, Hardy J (2002). An association study of a functional catalase gene polymorphism,-262C -> T, and patients with Alzheimer's disease. NEUROSCI LETT, 330(2), 210 - 212.
    • Pasalar P, Najmabadi H, Noorian AR, Moghimi B, Jannati A, Soltanzadeh A, Krefft T, Crook R, Hardy J (2002). An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). NEUROLOGY, 58(10), 1574 - 1575.
    • Morris HR, Baker M, Yasojima K, Houlden H, Khan MN, Wood NW, Hardy J, Grossman M, Trojanowski J, Revesz T, Bigio EH, Bergeron C, Janssen JC, Mcgeer PL, Rossor MN, Lees AJ, Lantos PL, Hutton M (2002). Analysis of tau haplotypes in Pick's disease. Neurology, 59(3), 443 - 445.
    • Myllykangas L, Polvikoski T, Reunanen K, Wavrant-DeVrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ (2002). ApoE epsilon 3-haplotype modulates Alzheimer beta-amyloid deposition in the brain. AMERICAN JOURNAL OF MEDICAL GENETICS, 114(3), 288 - 291. doi:10.1002/ajmg.10202
    • Caselli RJ, Hentz JG, Osborne D, Graff-Radford NR, Barbieri CJ, Alexander GE, Hall GR, Reiman EM, Hardy J, Saunders AM (2002). Apolipoprotein E and intellectual achievement. JOURNAL OF THE AMERICAN GERIATRICS SOCIETY, 50(1), 49 - 54. doi:10.1046/j.1532-5415.2002.50007.x
    • Henderson JN, Crook R, Crook J, Hardy J, Onstead L, Carson-Henderson L, Mayer P, Parker B, Petersen R, Williams B (2002). Apolipoprotein E4 and tau allele frequencies among Choctaw Indians. NEUROSCIENCE LETTERS, 324(1), 77 - 79. doi:10.1016/S0304-3940(02)00150-7
    • Taylor JP, Hardy J, Fischbeck KH (2002). Biomedicine - Toxic proteins in neurodegenerative disease. SCIENCE, 296(5575), 1991 - 1995. doi:10.1126/science.1067122
    • Goudreau JL, Maraganore DM, Farrer MJ, Lesnick TG, Singleton AB, Bower JH, Hardy JA, Rocca WA (2002). Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. MOVEMENT DISORDERS, 17(6), 1305 - 1311. doi:10.1002/mds.10268
    • Maraganore DM, Farrer MJ, McDonnell SK, Elbaz A, Schaid DJ, Hardy JA, Rocca WA (2002). Case-control study of estrogen receptor gene polymorphisms in Parkinson's disease. MOVEMENT DISORDERS, 17(3), 509 - 512. doi:10.1002/mds.1253
    • Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, Lincoln S (2002). Clinical, F-18-dopa PET, and genetic analysis of an ethnic chinese kindred with early-onset parkinsonism and parkin gene mutations. MOVEMENT DISORDERS, 17(4), 670 - 675. doi:10.1002/mds.10184
    • West A, Periquet M, Lincoln S, Lucking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Durr A, Hardy J, Brice A, Farrer M (2002). Complex relationship between parkin mutations and Parkinson disease. American Journal of Medical Genetics Part A, 114(5), 584 - 591.
    • Lambert JC, Araria-Goumidi L, Myllykangas L, Ellis C, Wang JC, Bullido MJ, Harris JM, Artiga MJ, Hernandez D, Kwon JM, Frigard B, Petersen RC, Cumming AM, Pasquier F, Sastre I, Tienari PJ, Frank A, Sulkava R, Morris JC, St Clair D, Mann DM, Wavrant-DeVrieze F, Ezquerra-Trabalon M, Amouyel P, Hardy J, Haltia M, Valdivieso F, Goate AM, Perez-Tur J, Lendon CL, Chartier-Harlin MC (2002). Contribution of APOE promoter polymorphisms to Alzheimer's disease risk. NEUROLOGY, 59(1), 59 - 66.
    • Boeve BF, Maraganore DM, Parisi JE, Ivnik RJ, Westmoreland BF, Dickson DW, Hutton M, Hardy J, Caselli RJ, Petersen RC (2002). Corticobasal degeneration and frontotemporal dementia presentations in a kindred with nonspecific histopathology. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 13(2), 80 - 90. doi:10.1159/000048638
    • Adlkofer F, Aguzzi A, Baumeister R, Haass C, Silva ODE, DeStrooper B, Dotti C, Efthimiopoulos S, Gomez-Isla T, Growdon J, Hardy J, Hock C, Nitsch R, Lannfelt L, Pohlner J, Rossor M, Tovar K, Unsicker K, Wiltfang J (2002). Early diagnosis of Alzheimer's disease and related dementia (DIADEM) - A research network funded by the European Union. NEUROBIOL AGING, 23(1), S383 - S383.
    • Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A (2002). Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. MOVEMENT DISORD, 17(5), 1068 - 1071. doi:10.1002/mds.10241
    • Singleton AA, Subramony SH, Hernandez D, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A (2002). Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians..
    • Tang-Wai D, Lewis P, Boeve B, Hutton M, Golde T, Baker M, Hardy J, Michels V, Ivnik R, Jack C, Petersen R (2002). Familial frontotemporal dementia associated with a novel presenilin-1 mutation. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 14(1), 13 - 21. doi:10.1159/000058328
    • Myers A, Wavrant De-Vrieze F, Holmans P, Hamshere M, Crook R, Compton D, Marshall H, Meyer D, Shears S, Booth J, Ramic D, Knowles H, Morris JC, Williams N, Norton N, Abraham R, Kehoe P, Williams H, Rudrasingham V, Rice F, Giles P, Tunstall N, Jones L, Lovestone S, Williams J, Owen MJ, Hardy J, Goate A (2002). Full genome screen for Alzheimer disease: stage II analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 114, 235 - 244.
    • West AB, Maraganore D, Crook J, Lesnick T, Lockhart PJ, Wilkes KM, Kapatos G, Hardy JA, Farrer MJ (2002). Functional association of the parkin gene promoter with idiopathic Parkinson's disease. HUMAN MOLECULAR GENETICS, 11(22), 2787 - 2792. doi:10.1093/hmg/11.22.2787
    • Pickering-Brown SM, Richardson AMT, Snowden JS, McDonagh AM, Burns A, Braude W, Baker M, Liu WK, Yen SH, Hardy J, Hutton M, Davies Y, Allsop D, Craufurd D, Neary D, Mann DMA (2002). Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. BRAIN, 125, 732 - 751. doi:10.1093/brain/awf069
    • Sambamurti K, Hardy J, Refolo LM, Lahiri DK (2002). Targeting APP metabolism for the treatment of Alzheimer's disease. DRUG DEVELOPMENT RESEARCH, 56(2), 211 - 227. doi:10.1002/ddr.10077
    • Hardy J (2002). Testing times for the "amyloid cascade hypothesis". NEUROBIOLOGY OF AGING, 23(6), 1073 - 1074. doi:10.1016/S0197-4580(02)00042-8
    • Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T, Wszolek ZK, Hardy J, Farrer MJ (2002). The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. GENE, 285(1-2), 229 - 237. doi:10.1016/S0378-1119(02)00402-X
    • Hardy J (2002). The real problem in association studies. AMERICAN JOURNAL OF MEDICAL GENETICS, 114(2), 253 - 253. doi:10.1002/ajmg.10294
    • Selkoe DJ, Hardy J (2002). The search for an amyloid solution - Response. SCIENCE, 298(5595), 963 - 964.
    • Farrer M, Skipper L, Berg M, Bisceglio G, Hanson M, Hardy J, Adam A, Gwinn-Hardy K, Aasly J (2002). The Tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. NEUROSCIENCE LETTERS, 322(2), 83 - 86. doi:10.1016/S0304-3940(02)00106-4
    • de Silva R, Hardy J, Crook J, Khan N, Graham EA, Morris CM, Wood NW, Lees AJ (2002). The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease. Neuroscience Letters, 330(2), 201 - 203.
    • Evidente VGH, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A (2002). X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: A more benign phenotype?. MOVEMENT DISORDERS, 17(1), 200 - 202. doi:10.1002/mds.1263
    • Fidani L, Goulas A, Mirtsou V, Petersen RC, Tangalos E, Crook R, Hardy J (2002). Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease. NEUROSCIENCE LETTERS, 323(1), 81 - 83. doi:10.1016/S0304-3940(02)00114-3
    • Hardy J, Selkoe DJ (2002). Medicine - The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. SCIENCE, 297(5580), 353 - 356. doi:10.1126/science.1072994
    • Fidani L, Compton D, Hardy J, Petersen RC, Tangalos E, Mirtsou V, Goulas A, De Vrieze FW (2002). No association between the lipoprotein lipase S447X polymorphism and Alzheimer's disease. NEUROSCI LETT, 322(3), 192 - 194.
    • Petrucelli L, O'Farrell C, Lockhart PJ, Baptista M, Kehoe K, Vink L, Choi P, Wolozin B, Farrer M, Hardy J, Cookson MR (2002). Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron, 36(6), 1007 - 1019. doi:10.1016/S0896-6273(02)01125-X
    • Hardy J (2002). Pathways to primary neurodegenerative disease. NEUROLOGIA, 17(8), 399 - 401.
    • Evidente VGH, Advincula J, Esteban R, Pasco P, Alfon JA, Natividad FF, Cuanang J, San Luis A, Gwinn-Hardy K, Hardy J, Hernandez D, Singleton A (2002). Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. MOVEMENT DISORDERS, 17(6), 1271 - 1277. doi:10.1002/mds.10271
    • Compton D, DeVrieze FW, Petersen RC, Tangalos E, Li L, Hardy J (2002). Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers. NEUROSCI LETT, 331(1), 60 - 62.
    • Lovestone S, Hardy J (2002). Psychotic genes or forgetful ones?. NEUROLOGY, 59(1), 11 - 12.

    2001

    • Caselli RJ, Osborne D, Reiman EM, Hentz JG, Barbieri CJ, Saunders AM, Hardy J, Graff-Radford NR, Hall GR, Alexander GE (2001). Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study. JOURNAL OF THE NEUROLOGICAL SCIENCES, 189(1-2), 93 - 98. doi:10.1016/S0022-510X(01)00577-9
    • Abbruzzese G, Agid Y, Albanese A, Alf C, Allen R, Amar K, de Andrade LA, Ang LC, Angelini C, Archer RL, Arunodaya GR, Baltzan M, Baral K, Barnett H, Bergamasco B, Berger M, Bernard J, Bharucha NE, Bhatia K, Blary N, Black S, Bodis-Wollner I, Boyson SJ, Bral-Kulaksizoglu I, Brooks DJ, Brown JD, Burke RE, Calne DOC, Calne SM, Cardoso F, Cardozo-Pelaez F, Chang YJ, Chen CC, Chen RS, Chen R, Chowdhury A, Christie S, Chu CC, Chu NS, Clarida L, Collette EM, Comella C, Conneally PM, Crossman AR, Csanda E, Dalmau J, Dalvi A, De Feijter A, Deecke L, Desai H, De Ybenes J, Dihenia B, Direnfeld L, Dodel R, Donat J, Doudet D, Duane DD, Duff J, Duvoisin R, Eggert K, Elble RJ, Elmer LW, Emre M, Fariello R, Fernendy HH, Findley LJ, Fink S, Freissmuth M, Friedman JH, de la Fuente-Fernandez R, Furtado S, Furukawa Y, Galvez-Jimenez N, Gauthier S, Gawel MJ, Gilman S, Gladstone RM, Goetz CG, Gomori A, Gopinathan G, Gordin A, Gorell JM, Greenamyre JT, Grimes DA, Gurvit H, Guttman M, Guzman DA, Hachinski V, Hanagasi H, Hardy J, Harik SJ, Hassan MN, Hattori N, Hauser RA, Hayashi H, Heller GL, Hobson D, Hochschorner G, Hortnagel H, Horowski R, Howse DC, Huang CC, Huk II, Hurtig H, Hutton JT, Jaffe ME, Jankovic J, Jardine M, Jog M, Johnson B, Kagamihara Y, Karagoz N, Kasper S, Kato S, Kebabian JW, Kertsz A, Khadilkar SV, Kirk A, Kish S, Kitaguchi T, Kofman OS, Koide R, Komori T, Kostyuk PG, Kumar R, Kuo HC, Kurlan R, Kurland L, Kurtuncu M, Lalkaka JA, Lambert M, Landau W, Lang AE, Lassmann H, Lee CS, Lees AJ, Lieberman A, Litvan I, Loeb C, Logan WJ, Lozano AM, Lu CS, Lucy D, Lynch T, Manyam BV, Maraganore D, Marshall FT, Martin WRW, Martin WE, Mathias C, Matsubera S, Mendis T, Menkes JH, Metz LN, Miyazaki Y, Mizuno Y, Mohr E, Moodley LG, Moore R, Morris JL, Muthane U, Nagaraja D, Nair CPV, Narabayashi H, Nomura Y, Norris JW, Obeso JA, O'Brien C, Oertel W, Ohtake T, Okiyama R, Ozdemir C, Pal PK, Panisset M, Paty DW, Paulson GW, Perlmutter J, Pfeiffer RF, Pifl C, Pincus JH, Poewe W, Quinn N, Rajput AH, Rajput A, Ransmayr G, Rascol O, Robinson R, Rocca WA, Roos RAC, Rosenfeld MR, Russell D, Ruth TJ, Ryu SJ, Sachdev H, Safoschnik G, Sahin H, Sanchez-Ramos J, Satishchandra P, Schapira A, Scheltens , Schmidley JW, Schnaberth G, Schneider E, Schneider JS, Schutz W, Seeberger LC, Segawa M, Sethi KD, Shah A, Shannon K, Shelton P, Shihabuddin B, Shimizu T, Shinotoh H, Siddique T, Siderowf A, Sieghart W, Simard A, Simmonds DC, Singhal BS, Sluga E, Snow BJ, Soukop W, Sperk G, Spieker S, Steele JC, Stewart S, Stoessl AJ, Subramony SH, Sundaram M, Sung CY, Surya N, Sweet RD, Tabbal SD, Takahashi H, Taniguchi M, Tarsy D, Teravainen H, Tetrud JW, Tolosa E, Tourtellotte WW, Troupin AS, Tsui JKC, Tuite P, Uc EY, Ueki Y, Uitti R, Uyu C, van Hilten JJ, Veerendrakumar M, Veloso F, Viallet F, Voll C, Vrooman M, Wang X, Ward I, Ward A, Waters C, Weng YH, Wenning GK, Williams BJ, Wilson TW, Wolters EC, Wooten FG, Wszolek Z, Yahr MD, Yanagisawa N, Yokochi F, Young RR, Yu CM, Zifko U (2001). An open letter to the Committee on the Nobel Prize in Medicine. PARKINSONISM & RELATED DISORDERS, 7(2), 149 - 155.
    • Polvikoski T, Sulkava R, Myllykangas L, Notkola IL, Niinisto L, Verkkoniemi A, Kainulainen K, Kontula K, Perez-Tur J, Hardy J, Haltia M (2001). Prevalence of Alzheimer's disease in very elderly people - A prospective neuropathological study. NEUROLOGY, 56(12), 1690 - 1696.
    • West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Muller-Myhsok B, Wszolek ZK, Hardy J, Gasser T (2001). Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. EUROPEAN JOURNAL OF HUMAN GENETICS, 9(9), 659 - 666. doi:10.1038/sj.ejhg.5200698
    • Hardy J, Crook R (2001). Presenilin mutations line up along transmembrane alpha-helices. NEUROSCIENCE LETTERS, 306(3), 203 - 205. doi:10.1016/S0304-3940(01)01910-3
    • Farrer M, Maraganore DM, Lockhart P, Singleton A, Lesnick TG, de Andrade M, West A, de Silva R, Hardy J, Hernandez D (2001). alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Human Molecular Genetics, 10(17), 1847 - 1851.
    • Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C (2001). A pathogenic presenilin-1 deletion causes abberrant A beta 42 production in the absence of congophilic amyloid plaques. Journal of Biological Chemistry, 276(10), 7233 - 7239.
    • Houlden H, Crook R, Dolan RJ, McLaughlin J, Revesz T, Hardy J (2001). A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. Neuroscience Letters, 313(1-2), 93 - 95.
    • Morris HR, Al Sarraj S, Schwab C, Gwinn-Hardy K, Perez-Tur J, Wood NW, Hardy J, Lees AJ, Mcgeer PL, Daniel SE, Steele JC (2001). A clinical and pathological study of motor neurone disease on Guam. Brain, 124(11), 2215 - 2222.
    • Meschia JF, Brown RD, Brott TG, Hardy J, Atkinson EJ, O'Brien PC (2001). Feasibility of an affected sibling pair study in ischemic stroke - Results of a 2-center family history registry. STROKE, 32(12), 2939 - 2941.
    • Lewis PA, Piper S, Baker M, Onstead L, Murphy MP, Hardy J, Wang R, McGowan E, Golde TE (2001). Expression of BRI-amyloid beta peptide fusion proteins: a novel method for specific high-level expression of amyloid beta peptides.. Biochim Biophys Acta, 1537(1), 58 - 62.
    • Lewis J, Dickson DW, Lin WL, Chisholm L, Corral A, Jones G, Yen SH, Sahara N, Skipper L, Yager D, Eckman C, Hardy J, Hutton M, McGowan E (2001). Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science, 293(5534), 1487 - 1491. doi:10.1126/science.1058189
    • Le TV, Crook R, Hardy J, Dickson DW (2001). Cotton wool plaques in non-familial late-onset Alzheimer disease. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 60(11), 1051 - 1061.
    • Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M (2001). Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.. Neurology, 56(12), 1702 - 1706.
    • Choi P, Golts N, Snyder H, Chong M, Petrucelli L, Hardy J, Sparkman D, Cochran E, Lee JM, Wolozin B (2001). Co-association of parkin and alpha-synuclein. NEUROREPORT, 12(13), 2839 - 2843. doi:10.1097/00001756-200109170-00017
    • Hardy J (2001). Genetic dissection of neurodegenerative disease. CLINICAL NEUROSCIENCE RESEARCH, 1(1-2), 134 - 141. doi:10.1016/S1566-2772(00)00013-X
    • Maraganore DM, Hernandez DG, Singleton AB, Fatter MJ, McDonnell SK, Hutton ML, Hardy JA, Rocca WA (2001). Case-control study of the extended tau gene haplotype in Parkinson's disease. ANNALS OF NEUROLOGY, 50(5), 658 - 661. doi:10.1002/ana.1228
    • Myllykangas L, Polvikoski T, Sulkava R, Notkola IL, Rastas S, Verkkoniemi A, Tienari PJ, Niinisto L, Hardy J, Perez-Tur J, Kontula K, Haltia M (2001). Association of lipoprotein lipase Ser447Ter polymorphism with brain infarction: a population-based neuropathological study. ANNALS OF MEDICINE, 33(7), 486 - 492. doi:10.3109/07853890109002098
    • Hardy J (2001). The human genome is sequenced - What does it mean and why is it important?. ARCHIVES OF NEUROLOGY, 58(11), 1748 - 1749. doi:10.1001/archneur.58.11.1748
    • Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW, Lees AJ, Revesz T, Lantos P, Rossor MN (2001). The genetic and pathological classification of familial frontotemporal dementia. Archives of Neurology, 58(11), 1813 - 1816.
    • Abraham R, Myers A, Wavrant-DeVrieze F, Hamshere ML, Thomas HV, Marshall H, Compton D, Spurlock G, Turic D, Hoogendoorn B, Kwon KM, Petersen RC, Tangalos E, Norton J, Morris JC, Bullock R, Liolitsa S, Lovestone S, Hardy J, Goate A, O'Donovan M, Williams J, Owen MJ, Jones L (2001). Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. HUMAN GENETICS, 109(6), 646 - 652. doi:10.1007/s00439-001-0614-1
    • Gwinn-Hardy K, Singleton A, O'Suilleabhain P, Boss M, Nicholl D, Adam A, Hussey J, Critchley P, Hardy J, Farrer M (2001). Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. ARCHIVES OF NEUROLOGY, 58(2), 296 - 299. doi:10.1001/archneur.58.2.296
    • Liu WK, Le TV, Adamson J, Baker M, Cookson N, Hardy J, Hutton M, Yen SH, Dickson DW (2001). Relationship of the extended tau haplotype to tau biochemistry and neuropathology in progressive supranuclear palsy. ANNALS OF NEUROLOGY, 50(4), 494 - 502. doi:10.1002/ana.1159
    • West A, Farrer M, Petrucelli L, Cookson M, Lockhart P, Hardy J (2001). Identification and characterization of the human parkin gene promoter. JOURNAL OF NEUROCHEMISTRY, 78(5), 1146 - 1152. doi:10.1046/j.1471-4159.2001.00512.x
    • Farrer M, Destee A, Levecque C, Singleton A, Engelender S, Becquet E, Mouroux V, Richard F, Defebvre L, Crook R, Hernandez D, Ross CA, Hardy J, Amouyel P, Chartier-Harlin MC (2001). Genetic analysis of synphilin-1 in familial Parkinson's disease. NEUROBIOLOGY OF DISEASE, 8(2), 317 - 323. doi:10.1006/nbdi.2000.0326
    • O'Farrell C, Murphy DD, Petrucelli L, Singleton AB, Hussey J, Farrer M, Hardy J, Dickson DW, Cookson MR (2001). Transfected synphilin-1 forms cytoplasmic inclusions in HEK293 cells. MOLECULAR BRAIN RESEARCH, 97(1), 94 - 102. doi:10.1016/S0169-328X(01)00292-3
    • Verkkoniemi A, Kalimo H, Paetau A, Somer M, Iwatsubo T, Hardy J, Haltia M (2001). Variant Alzheimer disease with spastic paraparesis: Neuropathological phenotype. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 60(5), 483 - 492.
    • Matsuoka Y, Vila M, Lincoln S, McCormack A, Picciano M, LaFrancois J, Yu X, Dickson D, Langston WJ, McGowan E, Farrer M, Hardy J, Duff K, Przedborski S, Di Monte DA (2001). Lack of nigral pathology in transgenic mice expressing human alpha-synuclein driven by the tyrosine hydroxylase promoter. NEUROBIOLOGY OF DISEASE, 8(3), 535 - 539. doi:10.1006/nbdi.2001.0392
    • Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW (2001). Lewy bodies and parkinsonism in families with parkin mutations. ANNALS OF NEUROLOGY, 50(3), 293 - 300. doi:10.1002/ana.1132
    • Wilcock DM, Gordon MN, Ugen KE, Gottschall PE, Dicarlo G, Dickey C, Boyett KW, Jantzen PT, Connor KE, Melachrino J, Hardy J, Morgan D (2001). Number of A beta inoculations in APP+PS1 transgenic mice influences antibody titers, microglial activation, and congophilic plaque levels. DNA AND CELL BIOLOGY, 20(11), 731 - 736. doi:10.1089/10445490152717596
    • Dickson D, Farrer M, Lincoln S, Mason RP, Zimmerman TR, Golbe LI, Hardy J (2001). Pathology of PD in monozygotic twins with a 20-year discordance interval. NEUROLOGY, 56(7), 981 - 982.

    2000

    • Gwinn-Hardy K, Chen JY, Liu HC, Liu TY, Boss M, Seltzer W, Adam A, Singleton A, Koroshetz W, Waters C, Hardy J, Farrer M (2000). Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. NEUROLOGY, 55(6), 800 - 805.
    • Lewis PA, Perez-Tur J, Golde TE, Hardy J (2000). The presenilin 1 C92S mutation increases abeta 42 production.. Biochem Biophys Res Commun, 277(1), 261 - 263. doi:10.1006/bbrc.2000.3646
    • Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW (2000). Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. ACTA NEUROPATHOLOGICA, 99(6), 663 - 672.
    • Morgan D, Diamond DM, Gottschall PE, Ugen KE, Dickey C, Hardy J, Duff K, Jantzen P, DiCarlo G, Wilcock D, Connor K, Hatcher J, Hope C, Gordon M, Arendash GW (2000). A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. NATURE, 408(6815), 982 - 985. doi:10.1038/35050116
    • Steiner H, Kostka M, Romig H, Basset G, Pesold B, Hardy J, Capell A, Meyn L, Grim ML, Baumeister R, Fechteler K, Haass C (2000). Glycine 384 is required for presenilin-1 function and is conserved in bacterial polytopic aspartyl proteases. NATURE CELL BIOLOGY, 2(11), 848 - 851.
    • Gwinn-Hardy KA, Crook R, Lincoln S, Adler CH, Caviness JN, Hardy J, Farrer M (2000). A kindred with Parkinson's disease not showing genetic linkage to established loci. NEUROLOGY, 54(2), 504 - 507.
    • Pickering-Brown S, Baker MD, Yen SH, Liu WK, Hasegawa M, Cairns N, Lantos PL, Rossor MN, Iwatsubo T, Davies Y, Allsop D, Furlong R, Owen F, Hardy J, Mann D, Hutton M (2000). Pick's disease is associated with mutations in the tau gene. Annals of Neurology, 48(6), 859 - 867.
    • Hardy J (2000). Pathways to primary neurodegenerative disease.
    • Hardy J, Singleton A (2000). The future of genetic analysis of neurological disorders. NEUROBIOLOGY OF DISEASE, 7(2), 65 - 69. doi:10.1006/nbdi.2000.0291
    • Meschia JF, Brott TG, Chukwudelunzu FE, Hardy J, Brown RD, Meissner I, Hall LJ, Atkinson EJ, O'Brien PC (2000). Verifying the stroke-free phenotype by structured telephone interview. STROKE, 31(5), 1076 - 1080.
    • Baker M, Graff-Radford D, DeVrieze FW, Graff-Radford N, Petersen RC, Kokmen E, Boeve B, Myllykangas L, Polvikoski T, Sulkava R, Verkoniemmi A, Tienari P, Haltia M, Hardy J, Hutton M, Perez-Tur J (2000). No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease. NEUROSCIENCE LETTERS, 285(2), 147 - 149. doi:10.1016/S0304-3940(00)01057-0
    • Lewis J, McGowan E, Rockwood J, Melrose H, Nacharaju P, Van Slegtenhorst M, Gwinn-Hardy K, Murphy MP, Baker M, Yu X, Duff K, Hardy J, Corral A, Lin WL, Yen SH, Dickson DW, Davies P, Hutton M (2000). Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. NATURE GENETICS, 25(4), 402 - 405.
    • Farrer M, Destee T, Becquet E, Wavrant-De Vrieze F, Mouroux V, Richard F, Defebvre L, Lincoln S, Hardy J, Amouyel S, Chartier-Harlin MC (2000). Linkage exclusion in French families with probable Parkinson's disease. MOVEMENT DISORDERS, 15(6), 1075 - 1083. doi:10.1002/1531-8257(200011)15:6<1075::AID-MDS1004>3.0.CO;2-2
    • Ostrerova-Golts N, Petrucelli L, Hardy J, Lee JM, Farer M, Wolozin B (2000). The A53T alpha-synuclein mutation increases iron-dependent aggregation and toxicity. JOURNAL OF NEUROSCIENCE, 20(16), 6048 - 6054.
    • Myers A, Holmans P, Marshall HK, J M, D R, D S, S B, J WD, F C, R H, M A, R T, Rice F, Carty S, Lillystone S, Kehoe P, Rudrasingham V, Jones L, Lovestone S, Perez-Tur J, Williams J, Owen MJ, Hardy J, Goate AM (2000). Susceptibility locus for Alzheimer’s disease on chromosome 10.. Science, 290, 2304 - 2305.
    • Houlden H, Baker MD, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T (2000). Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations. Annals of Neurology, 48(5), 806 - 808.
    • Verkkoniemi A, Somer M, Rinne JO, Myllykangas L, Crook R, Hardy J, Viitanen M, Kalimo H, Haltia M (2000). Variant Alzheimer's disease with spastic paraparesis - Clinical characterization. NEUROLOGY, 54(5), 1103 - 1109.
    • Maraganore DM, Farrer MJ, Hardy JA, McDonnell SK, Schaid DJ, Rocca WA (2000). Case-control study of debrisoquine 4-hydroxylase, N-acetyltransferase 2, and apolipoprotein E gene polymorphisms in Parkinson's disease. MOVEMENT DISORDERS, 15(4), 714 - 719. doi:10.1002/1531-8257(200007)15:4<714::AID-MDS1018>3.0.CO;2-3
    • Myllykangas L, Polvikoski T, Sulkava R, Verkkoniemi A, Tienari P, Niinisto L, Kontula K, Hardy J, Haltia M, Perez-Tur J (2000). Cardiovascular risk factors and Alzheimer's disease: a genetic association study in a population aged 85 or over. NEUROSCIENCE LETTERS, 292(3), 195 - 198. doi:10.1016/S0304-3940(00)01467-1
    • Lambert JC, Goumidi L, Wavrant-De Vrieze F, Frigard B, Harris JM, Cummings A, Coates J, Pasquier F, Cottel D, Gaillac M, St Clair D, Mann DMA, Hardy J, Lendon CL, Amouyel P, Chartier-Harlin MC (2000). The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. HUMAN MOLECULAR GENETICS, 9(15), 2275 - 2280.
    • Ko LW, Mehta ND, Farrer M, Easson C, Hussey J, Yen S, Hardy J, Yen SHC (2000). Sensitization of neuronal cells to oxidative stress with mutated human alpha-synuclein. JOURNAL OF NEUROCHEMISTRY, 75(6), 2546 - 2554. doi:10.1046/j.1471-4159.2000.0752546.x

    1999

    • Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin MC, Shears S, Roehl K, Booth J, Van Voorst W, Ramic D, Williams J, Goate A, Hardy J, Owen MJ (1999). A full genome scan for late onset Alzheimer's disease. HUMAN MOLECULAR GENETICS, 8(2), 237 - 245. doi:10.1093/hmg/8.2.237
    • Hardy J, Israel A (1999). Alzheimer's disease - In search of gamma-secretase. NATURE, 398(6727), 466 - 467. doi:10.1038/18979
    • Perez-Tur J, Buee L, Morris HR, Waring SC, Onstead L, Wavrant-De Vrieze F, Crook R, Buee-Scherrer V, Hof PR, Petersen RC, McGeer PL, Delacourte A, Hutton M, Siddique T, Ahlskog JE, Hardy J, Steele JC (1999). Neurodegenerative diseases of Guam: Analysis of TAU. NEUROLOGY, 53(2), 411 - 413.
    • Steiner H, Duff K, Capell A, Romig H, Grim MG, Lincoln S, Hardy J, Yu X, Picciano M, Fechteler K, Citron M, Kopan R, Pesold B, Keck S, Baader M, Tomita T, Iwatsubo T, Baumeister R, Haass C (1999). A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling. JOURNAL OF BIOLOGICAL CHEMISTRY, 274(40), 28669 - 28673. doi:10.1074/jbc.274.40.28669
    • Hardy J, Gwinn-Hardy K (1999). Neurodegenerative disease: a different view of diagnosis. MOLECULAR MEDICINE TODAY, 5(12), 514 - 517. doi:10.1016/S1357-4310(99)01604-4
    • Prihar G, de Chavez FG, Baker M, Crook R, McGowan E, Grover A, Hardy J, Hutton M (1999). A novel candidate presenilin-1 interacting protein containing tetratricopeptide repeats. NEUROREPORT, 10(7), 1409 - 1415. doi:10.1097/00001756-199905140-00005
    • Kamboh MI, Aston CE, Perez-Tur J, Kokmen E, Ferrell RE, Hardy J, DeKosky ST (1999). A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. NEUROSCIENCE LETTERS, 263(2-3), 129 - 132. doi:10.1016/S0304-3940(99)00129-9
    • Froelich S, Houlden H, Rizzu P, Chakraverty S, Baker M, Kwon J, Nowotny P, Isaacs A, Nowotny V, Wauters E, van Baren MJ, Oostra BA, Hardy J, Lannfelt L, Goate A, Hutton M, Lendon CL, Heutink P (1999). Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. Genomics, 60(2), 129 - 136.
    • De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut D, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C (1999). Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A beta 42 secretion. HUMAN MOLECULAR GENETICS, 8(8), 1529 - 1540. doi:10.1093/hmg/8.8.1529
    • Morris HR, Perez-Tur J, Janssen JC, Brown J, Lees AJ, Wood NW, Hardy J, Hutton M, Rossor MN (1999). Mutation in the tau exon 10 splice site region in familiar frontotemporal dementia. Annals of Neurology, 45, 270 - 271.
    • Lincoln S, Vaughan J, Wood N, Baker M, Adamson J, Gwinn-Hardy K, Lynch T, Hardy J, Farrer M (1999). Low frequency of pathogenic mutations in the ubiquitin carboxyterminal hydrolase gene in familial Parkinson's disease. NeuroReport, 10, 427 - 429.
    • Wavrant-De Vrieze F, Crook R, Holmans P, Kehoe P, Owen MJ, Williams J, Roehl K, Laliiri DK, Shears S, Booth J, Wu W, Goate A, Chartier-Harlin MC, Hardy J, Perez-Tur J (1999). Genetic variability at the amyloid-beta precursor protein locus may contribute to the risk of late-onset Alzheimer's disease. NEUROSCIENCE LETTERS, 269(2), 67 - 70. doi:10.1016/S0304-3940(99)00417-6
    • Lambert JC, Berr C, Pasquier F, Delacourte A, Frigard B, Cottel D, Perez-Tur J, Mouroux V, Mohr M, Cecyre D, Galasko D, Lendon C, Poirier J, Hardy J, Mann D, Amouyel P, Chartier-Harlin MC (1999). The risk of developing Alzheimer's disease associated with the APOE promoter polymorphisms.
    • Maraganore DM, Farrer MJ, Hardy JA, Lincoln SJ, McDonnell SK, Rocca WA (1999). Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. NEUROLOGY, 53(8), 1858 - 1860.
    • Wavrant De-Vrieze F, Rudrasingham V, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Holmans P, Rice F, Perez-Tur J, Frigard B, Morris J C C, S C, D T, N L, S P, R C C-H, M C G, A O, M J W, J H, J (1999). No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease.. Neuroscience Letters, 262, 137 - 139.
    • Lincoln S, Crook R, Chartier-Harlin MC, Gwinn-Hardy K, Baker M, Mouroux V, Richard F, Becquet E, Amouyel P, Destee A, Hardy J, Farrer M (1999). No pathogenic mutations in the beta-synuclein gene in Parkinson's disease. NEUROSCIENCE LETTERS, 269(2), 107 - 109. doi:10.1016/S0304-3940(99)00420-6
    • Lincoln S, Gwinn-Hardy K, Goudreau J, Chartier-Harlin MC, Baker M, Mouroux V, Richard F, Destee A, Becquet E, Amouyel P, Lynch T, Hardy J, Farrer M (1999). No pathogenic mutations in the persyn gene in Parkinson's disease. NEUROSCIENCE LETTERS, 259(1), 65 - 66. doi:10.1016/S0304-3940(98)00901-X
    • Hardy J (1999). Pathways to primary neurodegenerative disease. MAYO CLINIC PROCEEDINGS, 74(8), 835 - 837.
    • Morris HR, Baker M, Lees AJ, Hutton M, Hardy J, Wood NW (1999). Further analysis of the association of tau with progressive supranuclear palsy.. AM J HUM GENET, 65(4), A462 - A462.
    • Vaughan JR, Farrer M, De Michele G, Volpe G, Hardy J, Wood NW (1999). Further evidence for a chromosome 4p haplotype segregating with Parkinson's disease in an independent Italian kindred.. AM J HUM GENET, 65(4), A496 - A496.
    • Myllykangas L, Polvikoski T, Sulkava R, Verkkoniemi A, Crook R, Tienari PJ, Pusa AK, Niinisto L, O'Brien P, Kontula K, Hardy J, Haltia M, Perez-Tur J (1999). Genetic association of alpha(2)-macroglobulin with Alzheimer's disease in a Finnish elderly population. ANNALS OF NEUROLOGY, 46(3), 382 - 390.
    • Hardy J (1999). The shorter amyloid cascade hypothesis. NEUROBIOLOGY OF AGING, 20(1), 85 - 85.
    • Dickson DW, Liu WK, Hardy J, Farrer M, Mehta N, Uitti R, Mark M, Zimmerman T, Golbe L, Sage J, Sima A, D'Amato C, Albin R, Gilman S, Yen SH (1999). Widespread alterations of alpha-synuclein in multiple system atrophy. AMERICAN JOURNAL OF PATHOLOGY, 155(4), 1241 - 1251. doi:10.1016/S0002-9440(10)65226-1
    • Houlden H, Rizzu P, Stevens M, de Knijff P, van Duijn CM, van Swieten JC, Heutink P, Perez-Tur J, Thomas V, Baker M, Morris H, Rossor M, Jannsen JC, Petersen RC, Dodd P, Dark F, Boeve B, Dickson D, Davies P, Pickering-Brown S, Mann D, Adamson J, Lynch T, Payami H, Poorkaj P, Bird TD, Schellenberg GD, Chakraverty S, Norton J, Morris JC, Goate A, Hutton M, Hardy J (1999). Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations. Neuroscience Letters, 260(3), 193 - 195.
    • Refolo LM, Eckman C, Prada CM, Yager D, Sambamurti K, Mehta N, Hardy J, Younkin SG (1999). Antisense-induced reduction of presenilin 1 expression selectively increases the production of amyloid beta 42 in transfected cells. JOURNAL OF NEUROCHEMISTRY, 73(6), 2383 - 2388. doi:10.1046/j.1471-4159.1999.0732383.x
    • Gwinn-Hardy K, Evidente VGH, Waters C, Muenter MD, Hardy J (1999). L-dopa slows the progression of familial parkinsonism. LANCET, 353(9167), 1850 - 1851. doi:10.1016/S0140-6736(99)01398-7
    • Prihar G, Verkkoniemi A, Perez-Tur J, Crook R, Lincoln S, Moulden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M (1999). Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine, 5(10), 1090 - .
    • Ostrerova N, Petrucelli L, Farrer M, Mehta N, Choi P, Hardy J, Wolozin B (1999). alpha-Synuclein shares physical and functional homology with 14-3-3 proteins. JOURNAL OF NEUROSCIENCE, 19(14), 5782 - 5791.
    • Farrer M, Gwinn-Hardy K, Hutton M, Hardy J (1999). The genetics of disorders with synuclein pathology and parkinsonism. HUMAN MOLECULAR GENETICS, 8(10), 1901 - 1905. doi:10.1093/hmg/8.10.1901
    • Harhangi BS, Breteler MMB, Farrer MJ, Lincoln S, Hardy J, Bonifati V, Meco G, De Michele G, Brice A, Dürr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Oostra BA (1999). The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neuroscience Letters, 270(1), 1 - 4. doi:10.1016/S0304-3940(99)00465-6
    • Harhangi BS, Farrer MJ, Lincoln S, Bonifati V, Meco G, De Michele G, Brice A, Durr A, Martinez M, Gasser T, Bereznai B, Vaughan JR, Wood NW, Hardy J, Oostra BA, Breteler MMB (1999). The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease. Neuroscience Letters, 270, 1 - 4.
    • Wavrant-DeVrieze F, Lambert JC, Stas L, Crook R, Cottel D, Pasquier F, Frigard B, Lambrechts M, Thiry E, Amouyel P, Tur JP, Chartier-Harlin MC, Hardy J, Van Leuven F (1999). Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease. HUMAN GENETICS, 104(5), 432 - 434. doi:10.1007/s004390050980
    • Rudrasingham V, Wavrant De-Vrieze F, Lambert J, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Rice F, Perez-Tur J, Frigard B, Morris J C C, S P, R C, D T, N H, P L, S C-H, M C G, A H, J O, M J W, J (1999). Alpha -2 Macroglobulin and Alzheimer’s Disease. Nature Genetics, 22, 17 - 19.
    • Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M (1999). Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Human Molecular Genetics, 8(4), 711 - 715.
    • Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J (1999). A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. HUMAN MOLECULAR GENETICS, 8(1), 81 - 85. doi:10.1093/hmg/8.1.81

    1998

    • Hardy J, Perez-Tur J, Baker M, Farrer M, Crook R, Hutton M, Johnson WG, Gwinn K, Muenter M, Rocca WA, Maraganore D (1998). Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism. AMERICAN JOURNAL OF MEDICAL GENETICS, 81(2), 166 - 171.
    • Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C (1998). Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease. HUMAN MOLECULAR GENETICS, 7(1), 43 - 51. doi:10.1093/hmg/7.1.43
    • Harvey RJ, Ellison D, Hardy J, Hutton M, Rogues P, Collinge J, Fox NC, Rossor MN (1998). Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine->serine (L250S) substitution at codon 250 of the presenilin 1 gene. Journal of Neurology, Neurosurgery and Psychiatry, 64, 44 - 49.
    • Hutton M, Perez-Tur J, Hardy J (1998). Genetics of Alzheimer's disease. ESSAYS IN BIOCHEMISTRY, VOL 33, 1998, 33, 117 - 131.
    • Wu WS, Holmans P, Wavrant-Devrieze F, Shears S, Kehoe P, Crook R, Booth J, Williams N, Perez-Tur J, Roehl K, Fenton L, Chartier-Harlin MC, Lovestone S, Williams J, Hutton M, Hardy J, Owen MJ, Goate A (1998). Genetic studies on chromosome 12 in late-onset Alzheimer disease. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 280(7), 619 - 622. doi:10.1001/jama.280.7.619
    • Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P (1998). Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.. Nature, 393(6686), 702 - 705. doi:10.1038/31508
    • Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, De Michele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW (1998). Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Human Molecular Genetics, 7(4), 751 - 753.
    • Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, DeMichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW (1998). Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. HUM MOL GENET, 7(4), 751 - 753.
    • Mehta ND, Refolo LM, Eckman C, Sanders S, Yager D, Perez-Tur J, Younkin S, Duff K, Hardy J, Hutton M (1998). Increased A beta 42(43) from cell lines expressing presenilin 1 mutations. ANNALS OF NEUROLOGY, 43(2), 256 - 258. doi:10.1002/ana.410430217
    • Hardy J, Duff K, Hardy KG, Perez-Tur J, Hutton M (1998). Genetic dissection of Alzheimer's disease and related dementias: Amyloid and its relationship to tau. NATURE NEUROSCIENCE, 1(5), 355 - 358. doi:10.1038/1565
    • Hardy J, Gwinn-Hardy K (1998). Genetic classification of primary neurodegenerative disease. SCIENCE, 282(5391), 1075 - 1079. doi:10.1126/science.282.5391.1075
    • Farrer M, Wavrant-De Vrieze F, Crook R, Boles L, Perez-Tur J, Hardy J, Johnson WG, Steele J, Maraganore D, Gwinn K, Lynch T (1998). Low frequency of alpha-synuclein mutations in familial Parkinson's disease. ANNALS OF NEUROLOGY, 43(3), 394 - 397. doi:10.1002/ana.410430320
    • Grunberg J, Walter J, Eckman C, Capell A, Schindzielorz A, Younkin S, Mehta N, Hardy J, Haass C (1998). Truncated presenilin 2 derived from differentially spliced mRNAs does not affect the ratio of amyloid beta-peptide 1-42/1-40. NEUROREPORT, 9(14), 3293 - 3299.
    • Lambert JC, Berr C, Pasquier F, Delacourte A, Frigard B, Cottel D, Perez-Tur J, Mouroux V, Mohr M, Cecyre D, Galasko D, Lendon C, Poirier J, Hardy J, Mann D, Amouyel P, Chartier-Harlin MC (1998). Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease. HUMAN MOLECULAR GENETICS, 7(9), 1511 - 1516. doi:10.1093/hmg/7.9.1511
    • Houlden H, Crook R, Backhovens H, Prihar G, Baker M, Rossor MN, Martin JJ, Hutton M, Van Broeckhoven C, Hardy J (1998). ApoE genotype is a risk factor in non-Presenilin Early-Onset Alzeimer's disease. The American Journal of Human Genetics, 81(1), 117 - 121.
    • Holcomb L, Gordon MN, McGowan E, Yu X, Benkovic S, Jantzen P, Wright K, Saad I, Mueller R, Morgan D, Sanders S, Zehr C, O'Campo K, Hardy J, Prada CM, Eckman C, Younkin S, Hsiao K, Duff K (1998). Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes. NATURE MEDICINE, 4(1), 97 - 100. doi:10.1038/nm0198-097
    • Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, Poyhonen M, Kucera S, Haltia M (1998). A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Medicine, 4, 452 - 455.

    1997

    • Lambert JC, PerezTur J, Dupire MJ, Galasko D, Mann D, Amouyel P, Hardy J, Delacourte A, ChartierHarlin MC (1997). Distortion of allelic expression of apolipoprotein E in Alzheimer's disease. HUMAN MOLECULAR GENETICS, 6(12), 2151 - 2154. doi:10.1093/hmg/6.12.2151
    • Kwok JBJ, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, Hyslop PHS, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN (1997). Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype. NEUROREPORT, 8(6), 1537 - 1542. doi:10.1097/00001756-199704140-00043
    • Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques P, Collinge J, Hardy J, Hutton M, Stevens JM, Warrington EK, Rossor MN (1997). Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene - pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain, 120, 491 - 501.
    • Hutton M, Hardy J (1997). The presenilins and Alzheimer's disease. HUMAN MOLECULAR GENETICS, 6(10), 1639 - 1646. doi:10.1093/hmg/6.10.1639
    • WavrantDeVrieze F, PerezTur J, Lambert JC, Frigard B, Pasquier F, Delacourte A, Amouyel P, Hardy J, ChartierHarlin MC (1997). Association between the low density lipoprotein receptor-related protein (LRP) and Alzheimer's disease. NEUROSCIENCE LETTERS, 227(1), 68 - 70. doi:10.1016/S0304-3940(97)00304-2
    • Winblad B, Hardy O (1997). European research on Alzheimer's disease. LANCET, 350(9070), 73 - 74. doi:10.1016/S0140-6736(05)66284-8
    • Hardy J (1997). The Alzheimer family of diseases: Many etiologies, one pathogenesis?. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 94(6), 2095 - 2097. doi:10.1073/pnas.94.6.2095
    • Baker M, Kwok JB, Kucera S, Crook R, Farrer M, Houlden H, Isaacs A, Lincoln S, Onstead L, Hardy J, Wittenberg L, Dodd P, Webb S, Hayward N, Tannenberg T, Andreadis A, Hallupp M, Schofield P, Dark F, Hutton M (1997). Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.. Ann Neurol, 42(5), 794 - 798. doi:10.1002/ana.410420516
    • Hardy J (1997). Amyloid, the presenilins and Alzheimer's disease. TRENDS IN NEUROSCIENCES, 20(4), 154 - 159. doi:10.1016/S0166-2236(96)01030-2
    • Crook R, Ellis R, Shanks M, Thal LJ, PerezTur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D (1997). Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. ANNALS OF NEUROLOGY, 42(1), 124 - 128. doi:10.1002/ana.410420121
    • Eckman CB, Mehta ND, Crook R, Pereztur J, Prihar G, Pfeiffer E, GraffRadford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J (1997). A new pathogenic mutation in the APP gene (1716V) increases the relative proportion of A beta 42(43). HUMAN MOLECULAR GENETICS, 6(12), 2087 - 2089. doi:10.1093/hmg/6.12.2087
    • Hardy J (1997). The 'amyloid cascade hypothesis' of AD: decoy or real McCoy? Reply. TRENDS IN NEUROSCIENCES, 20(12), 559 - 559.

    1996

    • Talbot C, Houlden H, Craddock N, Crook R, Hutton M, Lendon C, Prihar G, Morris JC, Hardy J, Goate A (1996). Polymorphism in AACT gene may lower age of onset of Alzheimer's disease.. Neuroreport, 7(2), 534 - 536.
    • Ward RV, Davis JB, Gray CW, Barton AJL, Bresciani LG, Caivano M, Murphy VF, Duff K, Hutton M, Hardy J, Roberts GW, Karran EH (1996). Presenilin-1 is processed into two major cleavage products in neuronal cell lines. NEURODEGENERATION, 5(4), 293 - 298. doi:10.1006/neur.1996.0040
    • Clark RF, Hutton M, Talbot C, Wragg M, Lendon C, Busfield F, Han SW, PerezTur J, Adams M, Fuldner R, Roberts G, Karran E, Hardy J, Goate A (1996). The role of presenilin 1 in the genetics of Alzheimer's disease.
    • Hardy J (1996). New insights into the genetics of Alzheimer's disease. ANNALS OF MEDICINE, 28(3), 255 - 258. doi:10.3109/07853899609033127
    • Wragg M, Hutton M, Talbot C, Busfield F, Han SW, Lendon C, Clark RF, Morris JC, Edwards D, Goate A, Pfeiffer E, Crook R, Prihar G, Phillips H, Baker M, Hardy J, Rossor M, Houlden H, Karran E, Roberts G, Craddock N (1996). Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. LANCET, 347(9000), 509 - 512.
    • Duff K, Eckman C, Zehr C, Yu X, Prada CM, Pereztur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MN, Holcomb L, Refolo L, Zenk B, Hardy J, Younkin S (1996). Increased amyloid-beta 42(43) in brains of mice expressing mutant presenilin 1. NATURE, 383(6602), 710 - 713. doi:10.1038/383710a0
    • Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, Hardy J, Hutton M, Kukull W, Larson E, LevyLahad E, Viitanen M, Peskind E, Poorkaj P, Schellenberg G, Tanzi R, Wasco W, Lannfelt L, Selkoe D, Younkin S (1996). Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. NATURE MEDICINE, 2(8), 864 - 870. doi:10.1038/nm0896-864
    • Prihar G, Fuldner RA, PerezTur J, Lincoln S, Duff K, Crook R, Hardy J, Philips CA, Venter C, Talbot C, Clark RF, Goate A, Li JH, Potter H, Karran E, Roberts GW, Hutton M, Adams MD (1996). Structure and alternative splicing of the presenilin-2 gene. NEUROREPORT, 7(10), 1680 - 1684. doi:10.1097/00001756-199607080-00031
    • Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, Nichols A, Karran E, Roberts G, Roques P, Rossor M, Venter JC, Adams MD, Cline RT, Phillips CA, Goate A (1996). Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.. Neuroreport, 7(3), 801 - 805.
    • Thinakaran G, Borchelt DR, Lee MK, Slunt HH, Spitzer L, Kim G, Ratovitsky T, Davenport F, Nordstedt C, Seeger M, Hardy J, Levey AI, Gandy SE, Jenkins NA, Copeland NG, Price DL, Sisodia SS (1996). Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo. NEURON, 17(1), 181 - 190. doi:10.1016/S0896-6273(00)80291-3
    • PerezTur J, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts GW, Lancaster S, Haltia T (1996). A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. NEURODEGENERATION, 5(3), 207 - 212. doi:10.1006/neur.1996.0028
    • Barton AJL, Crook BW, Karran EH, Brown F, Dewar D, Mann DMA, Pearson RCA, Graham DI, Hardy J, Hutton M, Duff K, Goate AM, Clark RF, Roberts GW (1996). Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease. NEURODEGENERATION, 5(3), 213 - 218. doi:10.1006/neur.1996.0029
    • Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, Bird TD, Poorkaj P, Hardy J, Hutton M, Prihar G, Crook R, Rossor MN, Haltia M (1996). Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).. Ann Neurol, 40(2), 149 - 156. doi:10.1002/ana.410400205
    • Royston MC, Mann D, PickeringBrown S, Owen F, Perry R, Ragbavan R, KhinNu C, Tyner S, Day K, Crook R, Hardy J, Roberts GW (1996). ApoE2 allele, Down's syndrome, and dementia. doi:10.1111/j.1749-6632.1996.tb34428.x

    1995

    • CLARK RF, HUTTON M, FULDNER RA, FROELICH S, KARRAN E, TALBOT C, CROOK R, LENDON C, PRIHAR G, HE C, KORENBLAT K, MARTINEZ A, WRAGG M, BUSFIELD F, BEHRENS MI, MYERS A, NORTON J, MORRIS J, MEHTA N, PEARSON C, LINCOLN S, BAKER M, DUFF K, ZEHR C, PEREZTUR J, HOULDEN H, RUIZ A, OSSA J, LOPERA F, ARCOS M, MADRIGAL L, COLLINGE J, HUMPHREYS C, ASHWORTH A, SARNER S, FOX N, HARVEY R, KENNEDY A, ROQUES P, CLINE RT, PHILLIPS CA, VENTER JC, FORSELL L, AXELMAN K, LILIUS L, JOHNSTON J, COWBURN R, VIITANEN M, WINBLAD B, KOSIK K, HALTIA M, POYHONEN M, DICKSON D, MANN D, NEARY D, SNOWDEN J, LANTOS P, LANNFELT L, ROSSOR M, ROBERTS GW, ADAMS MD, HARDY J, GOATE A (1995). THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES. NAT GENET, 11(2), 219 - 222.
    • Lannfelt L, Lilius L, Viitanen M, Houlden H, Rossor M, Hardy J, Winblad B, Basun H (1995). Microsatellite D21S210 (GT-12) allele frequencies in sporadic Alzheimer's disease.. Acta Neurol Scand, 91(2), 145 - 148.
    • LIPPA C, SMITH T, SAUNDERS A, CROOK R, PULASKISALO D, DAVIES P, HARDY J, ROSES A, DICKSON D (1995). APOLIPOPROTEIN-E GENOTYPE AND LEWY BODY DISEASE. NEUROLOGY, 45(1), 97 - 103.
    • HARDY J (1995). APOLIPOPROTEIN-E IN THE GENETICS AND EPIDEMIOLOGY OF ALZHEIMERS-DISEASE. AMERICAN JOURNAL OF MEDICAL GENETICS, 60(5), 456 - 460. doi:10.1002/ajmg.1320600519
    • Houlden H, Crook R, Duff K, Hutton M, Collinge J, Roques P, Rossor M, Hardy J (1995). Apolipoprotein E alleles but neither apolipoprotein B nor apolipoprotein AI/CIII alleles are associated with late onset, familial Alzheimer's disease.. Neurosci Lett, 188(3), 202 - 204.
    • HARDY J, HUTTON M (1995). 2 NEW GENES FOR ALZHEIMERS-DISEASE. TRENDS IN NEUROSCIENCES, 18(10), 436 - 436. doi:10.1016/0166-2236(95)90092-6
    • PerezTur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF, Roques P, Fuldner RA, Johnston J, Cowburn R, Forsell C, Axelman K, Lilius L, Houlden H, Karran E, Roberts GW, Rossor M, Adams MD, Hardy J, Goate A, Lannfelt L, Hutton M (1995). A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NEUROREPORT, 7(1), 297 - 301.
    • DUFF K, HARDY J (1995). ALZHEIMERS-DISEASE - MOUSE MODEL MADE. NATURE, 373(6514), 476 - 477. doi:10.1038/373476a0
    • Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J (1995). Familial non-specific dementia maps to chromosome 3.. Hum Mol Genet, 4(9), 1625 - 1628.

    1994

    • HARDY J (1994). LEWY BODIES IN ALZHEIMERS-DISEASE IN WHICH THE PRIMARY LESION IS A MUTATION IN THE AMYLOID PRECURSOR PROTEIN. NEUROSCIENCE LETTERS, 180(2), 290 - 291. doi:10.1016/0304-3940(94)90541-X
    • ROYSTON M, MANN D, PICKERINGBROWN S, OWEN F, PERRY R, RAGHAVAN R, KHINNU C, TYRER S, DAY K, CROOK R, HARDY J, ROBERTS G (1994). APOLIPOPROTEIN-E EPSILON-2 ALLELE PROMOTES LONGEVITY AND PROTECTS PATIENTS WITH DOWNS-SYNDROME FROM DEMENTIA. NEUROREPORT, 5(18), 2583 - 2585. doi:10.1097/00001756-199412000-00044
    • DUFF K, MCGUIGAN A, HUXLEY C, SCHULZ F, HARDY J (1994). INSERTION OF A PATHOGENIC MUTATION INTO A YEAST ARTIFICIAL CHROMOSOME CONTAINING THE HUMAN AMYLOID PRECURSOR PROTEIN GENE. GENE THERAPY, 1(1), 70 - 75.
    • HARDY J, CROOK R, PRIHAR G, ROBERTS G, RAGHAVAN R, PERRY R (1994). SENILE DEMENTIA OF THE LEWY BODY TYPE HAS AN APOLIPOPROTEIN-E EPSILON-4 ALLELE FREQUENCY INTERMEDIATE BETWEEN CONTROLS AND ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS, 182(1), 1 - 2. doi:10.1016/0304-3940(94)90190-2
    • CROOK R, HARDY J, DUFF K (1994). SINGLE-DAY APOLIPOPROTEIN-E GENOTYPING. JOURNAL OF NEUROSCIENCE METHODS, 53(2), 125 - 127. doi:10.1016/0165-0270(94)90168-6
    • Haltia M, Viitanen M, Sulkava R, Ala-Hurula V, Poyhonen M, Goldfarb L, Brown P, Levy E, Houlden H, Crook R (1994). Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.. Ann Neurol, 36(3), 362 - 367. doi:10.1002/ana.410360307
    • Houlden H, Crook R, Hardy J, Roques P, Collinge J, Rossor M (1994). Confirmation that familial clustering and age of onset in late onset Alzheimer's disease are determined at the apolipoprotein E locus.. Neurosci Lett, 174(2), 222 - 224.
    • Collinge J, Palmer MS, Sidle KC, Mahal SP, Campbell T, Brown J, Hardy J, Brun AE, Gustafson L, Bakker E (1994). Familial Pick's disease and dementia in frontal lobe degeneration of non-Alzheimer type are not variants of prion disease.. J Neurol Neurosurg Psychiatry, 57(6), 762 - .
    • HARDY J (1994). ALZHEIMERS-DISEASE - CLINICAL MOLECULAR-GENETICS. CLINICS IN GERIATRIC MEDICINE, 10(2), 239 - 247.
    • HARDY J (1994). ALZHEIMERS-DISEASE - THE PRESENT SITUATION AND OUR TASKS.
    • LANNFELT L, BOGDANOVIC N, APPELGREN H, AXELMAN K, LILIUS L, HANSSON G, SCHENK D, HARDY J, WINBLAD B (1994). AMYLOID PRECURSOR PROTEIN MUTATION CAUSES ALZHEIMERS-DISEASE IN A SWEDISH FAMILY. NEUROSCIENCE LETTERS, 168(1-2), 254 - 255. doi:10.1016/0304-3940(94)90463-4
    • HARDY J, CROOK R, PERRY R, RAGHAVAN R, ROBERTS G (1994). APOE GENOTYPE AND DOWNS-SYNDROME. LANCET, 343(8903), 979 - 980. doi:10.1016/S0140-6736(94)90106-6
    • Van Broeckhoven C, Backhovens H, Cruts M, Martin JJ, Crook R, Houlden H, Hardy J (1994). APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.. Neurosci Lett, 169(1-2), 179 - 180.
    • HARDY J (1994). APOE, AMYLOID, AND ALZHEIMERS-DISEASE. SCIENCE, 263(5146), 454 - 455. doi:10.1126/science.8290946
    • Rempfer R, Crook R, Houlden H, Duff K, Hutton M, Roberts GW, Raghavan R, Perry R, Hardy J (1994). Parkinson's disease, but not Alzheimer's disease, Lewy body variant associated with mutant alleles at cytochrome P450 gene.. Lancet, 344(8925), 815 - .

    1993

    • Jackson M, Lennox G, Mayer J, Hardy J, Collinge J, Palmer MS, Rossor MN, Janota I, Lantos PL, Brown P (1993). 'Prion dementia' [1]. Lancet, 341(8845), 626 - 628. doi:10.1016/0140-6736(93)90383-R
    • HARDY J, HOULDEN H, COLLINGE J, KENNEDY A, NEWMAN S, ROSSOR M, LANNFELT L, LILIUS L, WINBLAD B, CROOK R, DUFF K (1993). APOLIPOPROTEIN-E GENOTYPE AND ALZHEIMERS-DISEASE. LANCET, 342(8873), 737 - 738.
    • HARDY J, DUFF K (1993). HETEROGENEITY IN ALZHEIMERS-DISEASE. ANNALS OF MEDICINE, 25(5), 437 - 440. doi:10.3109/07853899309147308
    • CHARTIER-HARLIN M, CRAWFORD F, PERL D, STEELE J, HARDY J (1993). SEQUENCING OF EXON-16 AND EXON-17 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE REVEALS THE BETA-AMYLOID SEQUENCE TO BE NORMAL IN CASES OF THE PARKINSON DEMENTIA COMPLEX OF GUAM. JOURNAL OF NEURAL TRANSMISSION-PARKINSONS DISEASE AND DEMENTIA SECTION, 5(1), 63 - 65. doi:10.1007/BF02260915
    • HARDY J, ROBERTS G (1993). SMOKING AND NEUROGENERATIVE DISEASES. LANCET, 342(8881), 1238 - 1238. doi:10.1016/0140-6736(93)92219-J
    • MULLAN M, TSUJI S, MIKI T, KATSUYA T, NARUSE S, KANEKO K, SHIMIZU T, KOJIMA T, NAKANO I, OGIHARA T, MIYATAKE T, OVENSTONE I, CRAWFORD F, GOATE A, HARDY J, ROQUES P, ROBERTS G, LUTHERT P, LANTOS P, CLARK C, GASKELL P, CRAIN B, ROSES A (1993). CLINICAL COMPARISON OF ALZHEIMERS-DISEASE IN PEDIGREES WITH THE CODON-717 VAL-]ILE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE. NEUROBIOLOGY OF AGING, 14(5), 407 - 419. doi:10.1016/0197-4580(93)90099-W
    • HOULDEN H, CROOK R, DUFF K, COLLINGE J, ROQUES P, ROSSOR M, HARDY J (1993). CONFIRMATION THAT THE APOLIPOPROTEIN E4 ALLELE IS ASSOCIATED WITH LATE-ONSET, FAMILIAL ALZHEIMERS-DISEASE. NEURODEGENERATION, 2(4), 283 - 286.
    • Brown J, Gydesen S, Sorensen SA, Brun A, Duff K, Houlden H, Fidani L, Kullkarni S, Cummings J, Goate A (1993). Exclusion mapping in familial non-specific dementia.. Dementia, 4(3-4), 163 - 166.
    • KENNEDY AM, NEWMAN S, MCCADDON A, BALL J, ROQUES P, MULLAN M, HARDY J, CHARTIERHARLIN MC, FRACKOWIAK RSJ, WARRINGTON EK, ROSSOR MN (1993). FAMILIAL ALZHEIMERS-DISEASE - A PEDIGREE WITH A MIS-SENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE (AMYLOID PRECURSOR PROTEIN 717 VALINE -] GLYCINE). BRAIN, 116, 309 - 324.
    • ADROER R, LOPEZACEDO C, OLIVA R, HARDY J, FIDANI L (1993). A NOVEL SILENT VARIANT AT CODON-711 AND A VARIANT AT CODON-708 OF THE APP SEQUENCE DETECTED IN SPANISH ALZHEIMER AND CONTROL CASES. NEUROSCIENCE LETTERS, 150(1), 33 - 34. doi:10.1016/0304-3940(93)90101-P
    • ROOKE K, TALBOT C, JAMES L, ANAND R, HARDY J, GOATE A (1993). A PHYSICAL MAP OF THE HUMAN APP GENE IN YACS. MAMMALIAN GENOME, 4(11), 662 - 669. doi:10.1007/BF00360904
    • King A, Houlden H, Hardy J, Lane R, Chancellor A, de Belleroche J (1993). Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis.. J Med Genet, 30(4), 318 - .
    • TANAKA H, NARUSE S, SEKI K, ONODERA O, KOBAYASHI H, MIYATAKE T, SHIBATA A, SAKAKI Y, KAMINO K, MIKI T, NUKINA N, IMAGAWA M, NAKANO I, SHIMIZU T, KOJIMA T, HARDY J, TSUJI S (1993). ABSENCE OF LINKAGE DISEQUILIBRIUM AT AMYLOID PRECURSOR PROTEIN GENE LOCUS IN JAPANESE FAMILIAL ALZHEIMERS-DISEASE WITH 717VAL-]ILE MUTATION. NEUROSCIENCE LETTERS, 162(1-2), 63 - 66. doi:10.1016/0304-3940(93)90560-8
    • LANNFELT L, FOLKESSON R, MOHAMMED A, WINBLAD B, HELLGREN D, DUFF K, HARDY J (1993). ALZHEIMERS-DISEASE - MOLECULAR-GENETICS AND TRANSGENIC ANIMAL-MODELS. BEHAVIOURAL BRAIN RESEARCH, 57(2), 207 - 213. doi:10.1016/0166-4328(93)90137-F
    • Brown J, Gydesen S, Sorensen SA, Brun A, Smith S, Houlden H, Twells R, Mullan M, Rossor M, Collinge J (1993). Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark.. J Neurol Sci, 114(2), 138 - 143.

    1992

    • MANN D, JONES D, SNOWDEN J, NEARY D, HARDY J (1992). PATHOLOGICAL-CHANGES IN THE BRAIN OF A PATIENT WITH FAMILIAL ALZHEIMERS-DISEASE HAVING A MISSENSE MUTATION AT CODON-717 IN THE AMYLOID PRECURSOR PROTEIN GENE. NEUROSCIENCE LETTERS, 137(2), 225 - 228. doi:10.1016/0304-3940(92)90409-Z
    • Poulter M, Baker HF, Frith CD, Leach M, Lofthouse R, Ridley RM, Shah T, Owen F, Collinge J, Brown J (1992). Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.. Brain, 115 ( Pt 3), 675 - 685.
    • Collinge J, Brown J, Hardy J, Mullan M, Rossor MN, Baker H, Crow TJ, Lofthouse R, Poulter M, Ridley R (1992). Inherited prion disease with 144 base pair gene insertion. 2. Clinical and pathological features.. Brain, 115 ( Pt 3), 687 - 710.
    • HARDY J (1992). FRAMING BETA-AMYLOID. NATURE GENETICS, 1(4), 233 - 234. doi:10.1038/ng0792-233
    • HARDY J (1992). AN ANATOMICAL CASCADE HYPOTHESIS FOR ALZHEIMERS-DISEASE. TRENDS IN NEUROSCIENCES, 15(6), 200 - 201. doi:10.1016/0166-2236(92)90033-5
    • HARDY J, CHARTIERHARLIN M, MULLAN M (1992). ALZHEIMER-DISEASE - THE NEW AGENDA. AMERICAN JOURNAL OF HUMAN GENETICS, 50(3), 648 - 651.
    • HARDY J, MULLAN M (1992). ALZHEIMERS-DISEASE - IN SEARCH OF THE SOLUBLE. NATURE, 359(6393), 268 - 269. doi:10.1038/359268a0
    • HARDY J, HIGGINS G (1992). ALZHEIMERS-DISEASE - THE AMYLOID CASCADE HYPOTHESIS. SCIENCE, 256(5054), 184 - 185. doi:10.1126/science.1566067
    • Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K (1992). A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.. Nat Genet, 2(4), 340 - 342. doi:10.1038/ng1292-340

    1991

    • HARDY J (1991). PRION DIMERS - A DEADLY DUO. TRENDS IN NEUROSCIENCES, 14(10), 423 - 424. doi:10.1016/0166-2236(91)90038-V
    • VANDUIJN C, HENDRIKS L, CRUTS M, HARDY J, HOFMAN A, VAN BROECKHOVEN C (1991). AMYLOID PRECURSOR PROTEIN GENE MUTATION IN EARLY-ONSET ALZHEIMERS-DISEASE. LANCET, 337(8747), 978 - 978. doi:10.1016/0140-6736(91)91611-W
    • MANT R, PARFITT E, HARDY J, OWEN M (1991). MONONUCLEOTIDE REPEAT POLYMORPHISM IN THE APP GENE. NUCLEIC ACIDS RESEARCH, 19(16), 4572 - 4572. doi:10.1093/nar/19.16.4572-a
    • HAAN J, HARDY J, ROOS R (1991). HEREDITARY CEREBRAL-HEMORRHAGE WITH AMYLOIDOSIS - DUTCH TYPE - ITS IMPORTANCE FOR ALZHEIMER RESEARCH. TRENDS IN NEUROSCIENCES, 14(6), 231 - 234. doi:10.1016/0166-2236(91)90120-J
    • Owen F, Poulter M, Collinge J, Leach M, Shah T, Lofthouse R, Chen YF, Crow TJ, Harding AE, Hardy J (1991). Insertions in the prion protein gene in atypical dementias.. Exp Neurol, 112(2), 240 - 242.
    • CHARTIERHARLIN M, CRAWFORD F, HAMANDI K, MULLAN M, GOATE A, HARDY J, BACKHOVENS H, MARTIN J, VAN BROECKHOVEN C (1991). SCREENING FOR THE BETA-AMYLOID PRECURSOR PROTEIN MUTATION (APP717-VAL-]ILE) IN EXTENDED PEDIGREES WITH EARLY ONSET ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS, 129(1), 134 - 135. doi:10.1016/0304-3940(91)90738-F
    • GOATE A, CHARTIERHARLIN M, MULLAN M, BROWN J, CRAWFORD F, FIDANI L, GIUFFRA L, HAYNES A, IRVING N, JAMES L, MANT R, NEWTON P, ROOKE K, ROQUES P, TALBOT C, PERICAKVANCE M, ROSES A, WILLIAMSON R, ROSSOR M, OWEN M, HARDY J (1991). SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE. NATURE, 349(6311), 704 - 706. doi:10.1038/349704a0
    • Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin MC (1991). Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.. Neurosci Lett, 133(1), 1 - 2.
    • IRVING N, HARDY J, BROWN S (1991). THE MULTIPOINT GENETIC-MAPPING OF MOUSE CHROMOSOME-16. GENOMICS, 9(2), 386 - 389. doi:10.1016/0888-7543(91)90271-F
    • Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J (1991). Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.. Nature, 353(6347), 844 - 846. doi:10.1038/353844a0
    • van Duijn CM, van Broeckhoven C, Hardy JA, Goate AM, Rossor MN, Vandenberghe A, Martin JJ, Hofman A, Mullan MJ (1991). Evidence for allelic heterogeneity in familial early-onset Alzheimer's disease.. Br J Psychiatry, 158, 471 - 474.
    • JEFFERYS J, MITCHELL P, OHARA L, TILEY C, HARDY J, JORDAN S, LYNCH M, WADSWORTH J (1991). EXVIVO RELEASE OF GABA FROM TETANUS TOXIN-INDUCED CHRONIC EPILEPTIC FOCI DECREASED DURING THE ACTIVE SEIZURE PHASE. NEUROCHEMISTRY INTERNATIONAL, 18(3), 373 - 379. doi:10.1016/0197-0186(91)90169-E
    • OWEN M, GOATE A, HARDY J (1991). A POLYMORPHIC MICROSATELLITE REPEAT SEQUENCE ON CHROMOSOME-21 (D21S80). NUCLEIC ACIDS RESEARCH, 19(16), 4574 - 4574. doi:10.1093/nar/19.16.4574
    • HARDY J, ALLSOP D (1991). AMYLOID DEPOSITION AS THE CENTRAL EVENT IN THE ETIOLOGY OF ALZHEIMERS-DISEASE. TRENDS IN PHARMACOLOGICAL SCIENCES, 12(10), 383 - 388. doi:10.1016/0165-6147(91)90609-V
    • Hardy J, Mullan M, Chartier-Harlin M-C, Brown J, Goate A, Rossor M, Collinge J, Roberts G, Luthert P, Lantos P, Naruse S, Kaneko K, Tsuji S, Miyatake T, Shimizu T, Kojima T, Nakano I, Yoshioka K, Sakaki Y (1991). Molecular classification of Alzheimer's disease [2]. Lancet, 337(8753), 1342 - 1343.

    1990

    • Collinge J, Owen F, Poulter M, Leach M, Crow TJ, Rossor MN, Hardy J, Mullan MJ, Janota I, Lantos PL (1990). Prion dementia without characteristic pathology.. Lancet, 336(8706), 7 - 9.
    • OWEN M, JAMES L, HARDY J, WILLIAMSON R, GOATE A (1990). PHYSICAL MAPPING AROUND THE ALZHEIMER-DISEASE LOCUS ON THE PROXIMAL LONG ARM OF CHROMOSOME-21. AMERICAN JOURNAL OF HUMAN GENETICS, 46(2), 316 - 322.
    • COWBURN R, HARDY J, ROBERTS P (1990). GLUTAMATERGIC NEUROTRANSMISSION IN ALZHEIMERS-DISEASE.
    • BARTON A, HARRISON P, NAJLERAHIM A, HEFFERNAN J, MCDONALD B, ROBINSON J, DAVIES D, HARRISON W, MITRA P, HARDY J, PEARSON R (1990). INCREASED TAU-MESSENGER RNA IN ALZHEIMERS-DISEASE HIPPOCAMPUS. AMERICAN JOURNAL OF PATHOLOGY, 137(3), 497 - 502.
    • VAN BROECKHOVEN C, HAAN J, BAKKER E, HARDY J, VANHUL W, WEHNERT A, VEGTERVANDERVLIS M, ROOS R (1990). AMYLOID-BETA PROTEIN-PRECURSOR GENE AND HEREDITARY CEREBRAL-HEMORRHAGE WITH AMYLOIDOSIS (DUTCH). SCIENCE, 248(4959), 1120 - 1122. doi:10.1126/science.1971458
    • HARDY J, GOATE A (1990). PRION DISEASE. In (Ed.), (pp. 370 - 370). : .
    • St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, McLachlan DR, Orr H, Bruni AC, Sorbi S, Rainero I, Foncin JF, Pollen D, Cantu JM, Tupler R, Voskresenskaya N, Mayeux R, Growden J, Fried VA, Myers RH, Nee L, Backhovens H, Martin JJ, Rossor M, Owen MJ, Mullan M, Percy ME, Karlinsky H, Rich S, Heston L, Montesi M, Mortilla M, Nacmias N, Gusella JF, Hardy JA, FAD Collaborative Study Group (1990). Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.. Nature, 347(6289), 194 - 197. doi:10.1038/347194a0
    • Walker AP, Collins FS, Siddique T, Yamaoka LH, Herbstreith MH, Pericak Vance MA, Secore SL, Hung WY, Goate AM, Hardy JA, Patterson DR, A D B, R J (1990). D21S194, a jump clone from D21S16. Nucleic Acids Research, 18(7), 1931 - 1931.
    • WESTER P, BERGSTROM U, ERIKSSON A, GEZELIUS C, HARDY J, WINBLAD B (1990). VENTRICULAR CEREBROSPINAL-FLUID MONOAMINE TRANSMITTER AND METABOLITE CONCENTRATIONS REFLECT HUMAN BRAIN NEUROCHEMISTRY IN AUTOPSY CASES. JOURNAL OF NEUROCHEMISTRY, 54(4), 1148 - 1156. doi:10.1111/j.1471-4159.1990.tb01942.x

    1989

    • Goate AM, Haynes AR, Owen MJ, Farrall M, James LA, Lai LY, Mullan MJ, Roques P, Rossor MN, Williamson R (1989). Predisposing locus for Alzheimer's disease on chromosome 21.. Lancet, 1(8634), 352 - 355.
    • Hardy J, Goate A, Owen M, Rossor M (1989). Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child.. Lancet, 2(8665), 743 - .
    • NORDBERG A, NILSSONHAKANSSON L, ADEM A, HARDY J, ALAFUZOFF I, LAI Z, HERRERAMARSCHITZ M, WINBLAD B (1989). THE ROLE OF NICOTINIC RECEPTORS IN THE PATHOPHYSIOLOGY OF ALZHEIMERS-DISEASE.
    • NORDBERG A, NILSSONHAKANSSON L, ADEM A, HARDY J, ALAFUZOFF I, LAI Z, HERRERAMARSCHITZ M, WINBLAD B (1989). THE ROLE OF NICOTINIC RECEPTORS IN THE PATHOPHYSIOLOGY OF ALZHEIMERS-DISEASE. PROGRESS IN BRAIN RESEARCH, 79, 353 - 362.
    • DODD P, WATSON W, MORRISON M, JOHNSTON G, BIRD E, COWBURN R, HARDY J (1989). UPTAKE OF GAMMA-AMINOBUTYRIC ACID AND L-GLUTAMIC ACID BY SYNAPTOSOMES FROM POSTMORTEM HUMAN CEREBRAL-CORTEX - MULTIPLE SITES, SODIUM DEPENDENCE AND EFFECT OF TISSUE-PREPARATION. BRAIN RESEARCH, 490(2), 320 - 331. doi:10.1016/0006-8993(89)90249-7
    • Hardy JA, Goate AM, Owen MJ, Mullan MJ, Rossor MN, Pearson RC (1989). Modelling the occurrence and pathology of Alzheimer's disease.. Neurobiol Aging, 10(5), 429 - 431.
    • BRADFORD H, FOLEY P, DOCHERTY M, FILLIT H, LUINE V, MCEWEN B, BUCHT G, WINBALD B, HARDY J (1989). ANTIBODIES IN SERUM OF PATIENTS WITH ALZHEIMERS-DISEASE CAUSE IMMUNOLYSIS OF CHOLINERGIC NERVE-TERMINALS FROM THE RAT CEREBRAL-CORTEX. CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 16(4), 528 - 534.
    • HARDY J (1989). SLOW VIRUS DEMENTIAS - PRION GENE HOLDS THE KEY. TRENDS IN NEUROSCIENCES, 12(5), 168 - 169. doi:10.1016/0166-2236(89)90062-3
    • IRVING N, HARDY J, BAHARY N, FRIEDMAN J, BROWN S (1989). THE ALPHA-2 CHAIN OF TYPE-1 COLLAGEN DOES NOT MAP TO MOUSE CHROMOSOME-16 BUT MAPS CLOSE TO THE MET PROTO-ONCOGENE ON MOUSE CHROMOSOME-6. CYTOGENETICS AND CELL GENETICS, 50(2-3), 121 - 122. doi:10.1159/000132737
    • COWBURN R, HARDY J, BRIGGS R, ROBERTS P (1989). CHARACTERIZATION, DENSITY, AND DISTRIBUTION OF KAINATE RECEPTORS IN NORMAL AND ALZHEIMERS DISEASED HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY, 52(1), 140 - 147. doi:10.1111/j.1471-4159.1989.tb10908.x
    • HARDY J, IRVING N, KESSLING A (1989). DOWN ON CHROMOSOME-21. TRENDS IN NEUROSCIENCES, 12(6), 209 - 210. doi:10.1016/0166-2236(89)90123-9
    • WILLOUGHBY J, COWBURN R, HARDY J, GLOVER V, SANDLER M (1989). 1-METHYL-4-PHENYLPYRIDINIUM UPTAKE BY HUMAN AND RAT STRIATAL SYNAPTOSOMES. JOURNAL OF NEUROCHEMISTRY, 52(2), 627 - 631. doi:10.1111/j.1471-4159.1989.tb09165.x
    • Hardy JA, Owen MJ, Goate AM, James LA, Haynes AR, Rossor MN, Roques P, Mullan MJ (1989). Molecular genetics of Alzheimer's disease.. Biochem Soc Trans, 17(1), 75 - 76.

    1988

    • COWBURN R, HARDY J, ROBERTS P, BRIGGS R (1988). PRESYNAPTIC AND POSTSYNAPTIC GLUTAMATERGIC FUNCTION IN ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS, 86(1), 109 - 113. doi:10.1016/0304-3940(88)90192-9
    • COWBURN R, HARDY J, ROBERTS P, BRIGGS R (1988). REGIONAL DISTRIBUTION OF PRESYNAPTIC AND POSTSYNAPTIC GLUTAMATERGIC FUNCTION IN ALZHEIMERS-DISEASE. BRAIN RESEARCH, 452(1-2), 403 - 407. doi:10.1016/0006-8993(88)90048-0
    • HARDY J (1988). MOLECULAR-BIOLOGY AND ALZHEIMERS-DISEASE - MORE QUESTIONS THAN ANSWERS. TRENDS IN NEUROSCIENCES, 11(7), 293 - 294. doi:10.1016/0166-2236(88)90088-4
    • HARDY J (1988). MOUSE MODELS OF HUMAN NEUROGENETIC DISORDERS. TRENDS IN NEUROSCIENCES, 11(3), 89 - 90. doi:10.1016/0166-2236(88)90148-8
    • DAVIES D, HARDY J (1988). BLOOD-BRAIN BARRIER IN AGING AND ALZHEIMERS-DISEASE. NEUROBIOLOGY OF AGING, 9(1), 46 - 48. doi:10.1016/S0197-4580(88)80017-4
    • DODD P, HAMBLEY J, COWBURN R, HARDY J (1988). A COMPARISON OF METHODOLOGIES FOR THE STUDY OF FUNCTIONAL TRANSMITTER NEUROCHEMISTRY IN HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY, 50(5), 1333 - 1345. doi:10.1111/j.1471-4159.1988.tb03013.x
    • COWBURN R, HARDY J, ROBERTS P (1988). CHARACTERIZATION OF NA+-INDEPENDENT L-[H-3]GLUTAMATE BINDING-SITES IN HUMAN TEMPORAL CORTEX. JOURNAL OF NEUROCHEMISTRY, 50(6), 1872 - 1878. doi:10.1111/j.1471-4159.1988.tb02491.x
    • OCONNOR I, COWBURN R, HARDY J, FOWLER C (1988). DOPAMINE AND APOMORPHINE DO NOT MODULATE THE UPTAKE OF [H-3] D-ASPARTATE IN THE RAT STRIATUM INVITRO. JOURNAL OF PHARMACY AND PHARMACOLOGY, 40(4), 307 - 308.
    • FOLEY P, BRADFORD H, DOCHERTY M, FILLIT H, LUINE V, MCEWEN B, BUCHT G, WINBLAD B, HARDY J (1988). EVIDENCE FOR THE PRESENCE OF ANTIBODIES TO CHOLINERGIC NEURONS IN THE SERUM OF PATIENTS WITH ALZHEIMERS-DISEASE. JOURNAL OF NEUROLOGY, 235(8), 466 - 471. doi:10.1007/BF00314249
    • HARDY J (1988). FRIEDREICHS ATAXIA GENE LOCALIZED TO CHROMOSOME-9. TRENDS IN NEUROSCIENCES, 11(11), 479 - 479. doi:10.1016/0166-2236(88)90005-7
    • HARDY J, DAVIES D (1988). ALZHEIMERS-DISEASE. BRITISH JOURNAL OF HOSPITAL MEDICINE, 39(5), 372 - &.
    • NORDBERG A, ADEM A, HARDY J, WINBLAD B (1988). CHANGE IN NICOTINIC RECEPTOR SUBTYPES IN TEMPORAL CORTEX OF ALZHEIMER BRAINS. NEUROSCIENCE LETTERS, 86(3), 317 - 321. doi:10.1016/0304-3940(88)90503-4

    1987

    • COWBURN R, BARTON A, HARDY J, WESTER P, WINBLAD B (1987). REGION-SPECIFIC DEFECTS IN GLUTAMATE AND GAMMA-AMINOBUTYRIC-ACID INNERVATION IN ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS, 15(3), 505 - 506.
    • HARDY J, WESTER P, BACKSTROM I, GOTTFRIES J, ORELAND L, STENSTROM A, WINBLAD B (1987). THE REGIONAL DISTRIBUTION OF DOPAMINE AND SEROTONIN UPTAKE AND TRANSMITTER CONCENTRATIONS IN THE HUMAN-BRAIN. NEUROCHEMISTRY INTERNATIONAL, 10(4), 445 - 450. doi:10.1016/0197-0186(87)90070-2
    • STENSTROM A, HARDY J, ORELAND L (1987). INTRA-DOPAMINE-SYNAPTOSOMAL AND EXTRA-DOPAMINE-SYNAPTOSOMAL LOCALIZATION OF MONOAMINE-OXIDASE IN STRIATAL HOMOGENATES FROM 4 SPECIES. BIOCHEMICAL PHARMACOLOGY, 36(18), 2931 - 2935. doi:10.1016/0006-2952(87)90205-X
    • HARDY J, COWBURN R, BARTON A, REYNOLDS G, LOFDAHL E, OCARROLL A, WESTER P, WINBLAD B (1987). GLUTAMATE DEFICITS IN ALZHEIMERS-DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 50(3), 356 - 357.
    • HARDY J, COWBURN R (1987). GLUTAMATE NEUROTOXICITY AND ALZHEIMERS-DISEASE. TRENDS IN NEUROSCIENCES, 10(10), 406 - 406. doi:10.1016/0166-2236(87)90008-7
    • HARDY J, COWBURN R, BARTON A, REYNOLDS G, LOFDAHL E, OCARROLL A, WESTER P, WINBLAD B (1987). REGION-SPECIFIC LOSS OF GLUTAMATE INNERVATION IN ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS, 73(1), 77 - 80. doi:10.1016/0304-3940(87)90034-6
    • HARDY J, COWBURN R, BARTON A, REYNOLDS G, DODD P, WESTER P, OCARROLL A, LOFDAHL E, WINBLAD B (1987). A DISORDER OF CORTICAL GABAERGIC INNERVATION IN ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS, 73(2), 192 - 196. doi:10.1016/0304-3940(87)90016-4
    • TYRRELL P, HARDY J, ROSSOR M (1987). TETRAHYDROAMINOACRIDINE AND ALZHEIMERS-DISEASE. LANCET, 1(8530), 444 - 444.
    • NILSSON L, ADEM A, HARDY J, WINBLAD B, NORDBERG A (1987). DO TETRAHYDROAMINOACRIDINE (THA) AND PHYSOSTIGMINE RESTORE ACETYLCHOLINE-RELEASE IN ALZHEIMER BRAINS VIA NICOTINIC RECEPTORS. JOURNAL OF NEURAL TRANSMISSION, 70(3-4), 357 - 368. doi:10.1007/BF01253610
    • TURNER J, BOAKES R, HARDY J, VIRMANI M (1987). EFFLUX OF PUTATIVE TRANSMITTERS FROM SUPERFUSED RAT-BRAIN SLICES INDUCED BY LOW CHLORIDE-ION CONCENTRATIONS. JOURNAL OF NEUROCHEMISTRY, 48(4), 1060 - 1068. doi:10.1111/j.1471-4159.1987.tb05627.x
    • FOLEY P, BRADFORD H, DOCHERTY M, FILLIT H, LUINE V, MCEWEN B, BUCHT G, WINBLAD B, HARDY J (1987). EVIDENCE FOR THE PRESENCE OF ANTIBODIES TO CHOLINERGIC NEURONS IN THE SERUM OF PATIENTS WITH ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS, 15(6), 1034 - 1036.
    • VAN BROECKHOVEN C, GENTHE A, VANDENBERGHE A, HORSTHEMKE B, BACKHOVENS H, RAEYMAEKERS P, VANHUL W, WEHNERT A, GHEUENS J, CRAS P, BRUYLAND M, MARTIN J, SALBAUM M, MULTHAUP G, MASTERS C, BEYREUTHER K, GURLING H, MULLAN M, HOLLAND A, BARTON A, IRVING N, WILLIAMSON R, RICHARDS S, HARDY J (1987). FAILURE OF FAMILIAL ALZHEIMERS-DISEASE TO SEGREGATE WITH THE A4-AMYLOID GENE IN SEVERAL EUROPEAN FAMILIES. NATURE, 329(6135), 153 - 155.
    • COWBURN R, DODD P, HARDY J, JOHNSTON G (1987). A COMPARISON OF HIGH-AFFINITY SYNAPTOSOMAL UPTAKE OF D-ASPARTATE IN RAT AND HUMAN-BRAIN. NEUROCHEMISTRY INTERNATIONAL, 10(3), 339 - 346. doi:10.1016/0197-0186(87)90108-2
    • BARTON A, HARDY J (1987). STABILITY OF BRAIN-RNA POSTMORTEM - EFFECT OF ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS, 15(3), 558 - 559.

    1986

    • ALMQVIST P, CARLSSON S, HARDY J, WINBLAD B (1986). REGIONAL AND SUBCELLULAR-DISTRIBUTION OF THY-1 IN HUMAN-BRAIN ASSAYED BY A SOLID-PHASE RADIOIMMUNOASSAY. JOURNAL OF NEUROCHEMISTRY, 46(3), 681 - 685. doi:10.1111/j.1471-4159.1986.tb13025.x
    • HARDY J, BARTON A, LOFDAHL E, CHEETHAM S, JOHNSTON G, DODD P (1986). UPTAKE OF GAMMA-AMINOBUTYRIC-ACID AND GLYCINE BY SYNAPTOSOMES FROM POSTMEM HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY, 47(2), 460 - 467.
    • HARDY J, MANN D, WESTER P, WINBLAD B (1986). AN INTEGRATIVE HYPOTHESIS CONCERNING THE PATHOGENESIS AND PROGRESSION OF ALZHEIMERS-DISEASE. NEUROBIOLOGY OF AGING, 7(6), 489 - 502. doi:10.1016/0197-4580(86)90086-2
    • NILSSON L, NORDBERG A, HARDY J, WESTER P, WINBLAD B (1986). PHYSOSTIGMINE RESTORES H-3 ACETYLCHOLINE EFFLUX FROM ALZHEIMER BRAIN-SLICES TO NORMAL LEVEL. JOURNAL OF NEURAL TRANSMISSION, 67(3-4), 275 - 285. doi:10.1007/BF01243353
    • MANN D, HARDY J (1986). THE IMPORTANCE OF ALTERED STRUCTURAL PROTEINS IN THE PATHOGENESIS OF ALZHEIMERS-DISEASE. NEUROBIOLOGY OF AGING, 7(6), 444 - 446. doi:10.1016/0197-4580(86)90062-X
    • DODD P, HARDY J, BAIG E, KIDD A, BIRD E, WATSON W, JOHNSTON G (1986). OPTIMIZATION OF FREEZING, STORAGE, AND THAWING CONDITIONS FOR THE PREPARATION OF METABOLICALLY ACTIVE SYNAPTOSOMES FROM FROZEN RAT AND HUMAN-BRAIN. NEUROCHEMICAL PATHOLOGY, 4(3), 177 - 198. doi:10.1007/BF02834357

    1985

    • STENSTROM A, ORELAND L, HARDY J, WESTER P, WINBLAD B (1985). THE UPTAKE OF SEROTONIN AND DOPAMINE BY HOMOGENATES OF FROZEN RAT AND HUMAN-BRAIN TISSUE. NEUROCHEMICAL RESEARCH, 10(5), 591 - 599. doi:10.1007/BF00964398
    • HARDY J, ADOLFSSON R, ALAFUZOFF I, BUCHT G, MARCUSSON J, NYBERG P, PERDAHL E, WESTER P, WINBLAD B (1985). TRANSMITTER DEFICITS IN ALZHEIMERS-DISEASE. NEUROCHEMISTRY INTERNATIONAL, 7(4), 545 - 563. doi:10.1016/0197-0186(85)90050-6
    • WINBLAD B, HARDY J, BACKMAN L, NILSSON L (1985). MEMORY FUNCTION AND BRAIN BIOCHEMISTRY IN NORMAL AGING AND IN SENILE DEMENTIA. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 444(MAY), 255 - 268. doi:10.1111/j.1749-6632.1985.tb37595.x
    • WESTER P, BATEMAN D, DODD P, EDWARDSON J, HARDY J, KIDD A, PERRY R, SINGH G (1985). AGONAL STATUS AFFECTS THE METABOLIC-ACTIVITY OF NERVE-ENDINGS ISOLATED FROM POSTMORTEM HUMAN-BRAIN. NEUROCHEMICAL PATHOLOGY, 3(3), 169 - 180. doi:10.1007/BF02834269
    • HARDY J, WESTER P, WINBLAD B, GEZELIUS C, BRING G, ERIKSSON A (1985). THE PATIENTS DYING AFTER LONG TERMINAL PHASE HAVE ACIDOTIC BRAINS - IMPLICATIONS FOR BIOCHEMICAL MEASUREMENTS ON AUTOPSY TISSUE. JOURNAL OF NEURAL TRANSMISSION, 61(3-4), 253 - 264. doi:10.1007/BF01251916
    • NYBERG P, ADOLFSSON R, HARDY J, NORDBERG A, WESTER P, WINBLAD B (1985). CATECHOLAMINE TOPOCHEMISTRY IN HUMAN BASAL GANGLIA - COMPARISON BETWEEN NORMAL AND ALZHEIMER BRAINS. BRAIN RESEARCH, 333(1), 139 - 142. doi:10.1016/0006-8993(85)90133-7
    • VENABLES G, MILLER S, GIBSON G, HARDY J, STRONG A (1985). THE EFFECTS OF HYPERGLYCEMIA ON CHANGES DURING REPERFUSION FOLLOWING FOCAL CEREBRAL-ISCHEMIA IN THE CAT. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 48(7), 663 - 669. doi:10.1136/jnnp.48.7.663

    1984

    • PERRY E, ATACK J, PERRY R, HARDY J, DODD P, EDWARDSON J, BLESSED G, TOMLINSON B, FAIRBAIRN A (1984). INTRALAMINAR NEUROCHEMICAL DISTRIBUTIONS IN HUMAN MID-TEMPORAL CORTEX - COMPARISON BETWEEN ALZHEIMERS-DISEASE AND THE NORMAL. JOURNAL OF NEUROCHEMISTRY, 42(5), 1402 - 1410. doi:10.1111/j.1471-4159.1984.tb02801.x
    • HARDY J, BATEMAN D, KIDD A, EDWARDSON J, SINGH G, DODD P (1984). AMINO-ACID-TRANSPORT BY SYNAPTOSOMES ISOLATED FROM POST-MORTEM HUMAN-BRAIN. JOURNAL OF NEURAL TRANSMISSION, 60(1), 57 - 62. doi:10.1007/BF01254765
    • WESTER P, HARDY J, MARCUSSON J, NYBERG P, WINBLAD B (1984). SEROTONIN CONCENTRATIONS IN NORMAL AGING HUMAN BRAINS - RELATION TO SEROTONIN RECEPTORS. NEUROBIOLOGY OF AGING, 5(3), 199 - 203. doi:10.1016/0197-4580(84)90063-0
    • HARDY J, BOAKES R, THOMAS D, KIDD A, EDWARDSON J, VIRMANI M, TURNER J, DODD P (1984). RELEASE OF ASPARTATE AND GLUTAMATE CAUSED BY CHLORIDE REDUCTION IN SYNAPTOSOMAL INCUBATION MEDIA. JOURNAL OF NEUROCHEMISTRY, 42(3), 875 - 877. doi:10.1111/j.1471-4159.1984.tb02763.x

    1983

    • MCDERMOTT J, SMITH A, DODD P, HARDY J, EDWARDSON J (1983). MECHANISM OF DEGRADATION OF LH-RH AND NEUROTENSIN BY SYNAPTOSOMAL PEPTIDASES. PEPTIDES, 4(1), 25 - 30. doi:10.1016/0196-9781(83)90160-2
    • HARDY J, DODD P (1983). METABOLIC AND FUNCTIONAL-STUDIES ON POSTMORTEM HUMAN-BRAIN. NEUROCHEMISTRY INTERNATIONAL, 5(3), 253 - 266. doi:10.1016/0197-0186(83)90027-X
    • STRONG A, TOMLINSON B, VENABLES G, GIBSON G, HARDY J (1983). THE CORTICAL ISCHEMIC PENUMBRA ASSOCIATED WITH OCCLUSION OF THE MIDDLE CEREBRAL-ARTERY IN THE CAT .2. STUDIES OF HISTOPATHOLOGY, WATER-CONTENT, AND INVITRO NEUROTRANSMITTER UPTAKE. JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM, 3(1), 97 - 108.
    • MCDERMOTT J, DODD P, EDWARDSON J, HARDY J, SMITH A (1983). PATHWAY OF INACTIVATION OF CHOLECYSTOKININ OCTAPEPTIDE (CCK-8) BY SYNAPTOSOMAL FRACTIONS. NEUROCHEMISTRY INTERNATIONAL, 5(5), 641 - 647. doi:10.1016/0197-0186(83)90058-X
    • HARDY J, DODD P, OAKLEY A, PERRY R, EDWARDSON J, KIDD A (1983). METABOLICALLY ACTIVE SYNAPTOSOMES CAN BE PREPARED FROM FROZEN RAT AND HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY, 40(3), 608 - 614. doi:10.1111/j.1471-4159.1983.tb08024.x

    1982

    • HARDY J, DODD P, OAKLEY A, KIDD A, PERRY R, EDWARDSON J (1982). USE OF POSTMORTEM HUMAN SYNAPTOSOMES FOR STUDIES OF METABOLISM AND TRANSMITTER AMINO-ACID RELEASE. NEUROSCIENCE LETTERS, 33(3), 317 - 322. doi:10.1016/0304-3940(82)90392-5
    • MCDERMOTT J, SMITH A, HARDY J, DODD P, EDWARDSON J (1982). DEGRADATION OF CCK-8 BY RAT SYNAPTOSOMAL PEPTIDASES. REGULATORY PEPTIDES, 3(1), 77 - 77. doi:10.1016/0167-0115(82)90034-9
    • STRONG AJ, HARDY J, GIBSON G, TOMLINSON BE, SYMON L, BRANSTON NM, BOWEN DM (1982). ARE NEUROTRANSMITTER UPTAKE MECHANISMS SELECTIVELY DAMAGED IN THE ISCHEMIC PENUMBRA. J CEREBR BLOOD F MET, 2(2), 264 - 265.

    1981

    • DODD P, HARDY J, OAKLEY A, STRONG A (1981). SYNAPTOSOMES PREPARED FROM FRESH HUMAN CEREBRAL-CORTEX - MORPHOLOGY, RESPIRATION AND RELEASE OF TRANSMITTER AMINO-ACIDS. BRAIN RESEARCH, 224(2), 419 - 425. doi:10.1016/0006-8993(81)90871-4
    • DODD P, HARDY J, OAKLEY A, EDWARDSON J, PERRY E, DELAUNOY J (1981). A RAPID METHOD FOR PREPARING SYNAPTOSOMES - COMPARISON, WITH ALTERNATIVE PROCEDURES. BRAIN RESEARCH, 226(1-2), 107 - 118. doi:10.1016/0006-8993(81)91086-6
    • MCDERMOTT J, SMITH A, BIGGINS J, HARDY J, DODD P, EDWARDSON J (1981). DEGRADATION OF LUTEINIZING-HORMONE-RELEASING HORMONE BY SERUM AND PLASMA INVITRO. REGULATORY PEPTIDES, 2(2), 69 - 79. doi:10.1016/0167-0115(81)90001-X

    1980

    • HARDY J, BELLEROCHE J, BORDER D, BRADFORD H (1980). DIFFERENTIAL TRANSMITTER RELEASE FROM NERVE-TERMINALS ISOLATED FROM BASAL GANGLIA AND SUBSTANTIA NIGRA. JOURNAL OF NEUROCHEMISTRY, 34(5), 1130 - 1139. doi:10.1111/j.1471-4159.1980.tb09952.x
    • REYNOLDS G, SANDLER M, HARDY J, BRADFORD H (1980). THE DETERMINATION AND DISTRIBUTION OF 2-PHENYLETHYLAMINE IN SHEEP BRAIN. JOURNAL OF NEUROCHEMISTRY, 34(5), 1123 - 1125. doi:10.1111/j.1471-4159.1980.tb09950.x

    1979

    • DODD P, HARDY J, BRADFORD H, BENNETT G, EDWARDSON J, HARDING B (1979). METABOLIC AND SECRETORY PROCESSES IN NERVE-ENDINGS ISOLATED FROM POSTMORTEM BRAIN. NEUROSCIENCE LETTERS, 11(1), 87 - 92. doi:10.1016/0304-3940(79)90061-2

    • Ahmed R, Guerreiro R, Rohrer JD, Guven G, Rossor MN, Hardy J, Fox NC (). A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences, , - . doi:10.1016/j.jns.2013.06.007
    • Chang C-W, Hsu W-C, Wu Y-R, Fung H-C, Pittman A, Hardy J (). Structural study of the microtubule-associated protein tau locus of Alzheimer′s disease in Taiwan. Biomedical Journal, 37(3), 127 - 132. doi:10.4103/2319-4170.117891