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John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

In this paper Claudia Manzoni studies how fibroblast cells from people with Parkinson’s disease caused by mutations in LRRK2 react to starvation. Although the changes are quite subtle, there are differences between the way that fibroblasts that contain mutant LRRK2 respond to being starved – suggesting that there may be changes in the way that these cells regulate a key process called autophagy (a term which comes from the greek meaning to eat yourself, and is one of the ways that cells get rid of waste and recycle proteins and organellles).
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John Hardy

(Principal Investigator)

John Hardy


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 understanding of disease mechanisms and to help in the search for treatments. 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 enable them to build good models of disease.

John Hardy is the Head of the Department of Molecular Neuroscience and Chair of Molecular Biology of Neurological Disease at the UCL Institute of Neurology. Prof Hardy is the most cited Alzheimer's disease researcher in the UK (5th internationally). In recognition of his exceptional contributions to science, he was elected a Fellow of the Royal Society in 2009.

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Number of items: 895.

2015

Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; Evrard, C; (2015) A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis , 43 (2) 625 - 630. 10.3233/JAD-141512. Green open access
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Bras, J; Alonso, I; Barbot, C; Costa, MM; Darwent, L; Orme, T; Sequeiros, J; (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet , 96 (3) 474 - 479. 10.1016/j.ajhg.2015.01.005.

Bras, J; Darwent, L; Orme, T; Hardy, J; Guerreiro, R; Alonso, I; Barbot, C; (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics , 96 (3) 474 - 479. 10.1016/j.ajhg.2015.01.005. Green open access
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Brás, J; Guerreiro, R; Hardy, J; (2015) SnapShot: Genetics of Parkinson's disease. Cell , 160 (3) 570 - 570.e1. 10.1016/j.cell.2015.01.019.

Brändl, B; Schneider, SA; Loring, JF; Hardy, J; Gribbon, P; Müller, FJ; (2015) Stem cell reprogramming: Basic implications and future perspective for movement disorders. Mov Disord , 30 (3) 301 - 312. 10.1002/mds.26113.

Desikan, RS; Schork, AJ; Wang, Y; Thompson, WK; Dehghan, A; Ridker, PM; Chasman, DI; (2015) Polygenic Overlap Between C-Reactive Protein, Plasma Lipids and Alzheimer's Disease. Circulation 10.1161/CIRCULATIONAHA.115.015489.

Desikan, RS; Schork, AJ; Wang, Y; Witoelar, A; Sharma, M; McEvoy, LK; Holland, D; (2015) Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry 10.1038/mp.2015.6.

Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; (2015) Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature , 518 (7537) 102 - 106. 10.1038/nature13917.

Escott-Price, V; International Parkinson's Disease Genomics Consortium, ; Nalls, MA; Morris, HR; Lubbe, S; Brice, A; Gasser, T; (2015) Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol , 77 (4) 582 - 591. 10.1002/ana.24335.

Guerreiro, R; Bras, J; Toombs, J; Heslegrave, A; Hardy, J; Zetterberg, H; (2015) Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease. Curr Genet Med Rep , 3 19 - 25. 10.1007/s40142-014-0062-6. Green open access
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Guerreiro, R; Brás, J; Hardy, J; (2015) SnapShot: Genetics of ALS and FTD. Cell , 160 (4) 798.e1 - 798.e1. 10.1016/j.cell.2015.01.052.

Guerreiro, R; Brás, J; Hardy, J; (2015) SnapShot: Genetics of ALS and FTD. Cell , 160 (4) 798.e1 - ?. 10.1016/j.cell.2015.01.052.

Hibar, DP; Stein, JL; Renteria, ME; Arias-Vasquez, A; Desrivières, S; Jahanshad, N; Toro, R; (2015) Common genetic variants influence human subcortical brain structures. Nature , 520 (7546) 224 - 229. 10.1038/nature14101.

Jun, G; Ibrahim-Verbaas, CA; Vronskaya, M; Lambert, JC; Chung, J; Naj, AC; Kunkle, BW; (2015) A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry 10.1038/mp.2015.23.

Kiely, AP; Ling, H; Asi, YT; Kara, E; Limousin, P; Lewis, P; Proukakis, C; (2015) Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 31 - 31).

Killick, R; Hardy, J; Simons, JP; (2015) Reducing β-Amyloid by Inhibition of BACE1: How Low Should You Go? Biol Psychiatry , 77 (8) 683 - 684. 10.1016/j.biopsych.2015.03.001.

Ling, H; Hardy, J; Zetterberg, H; (2015) Neurological consequences of traumatic brain injuries in sports. Molecular and Cellular Neuroscience , 66 (B) pp. 114-122. 10.1016/j.mcn.2015.03.012. Green open access
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Matarin, M; Perona, M; Salih, DA; Yasvoina, M; Cummings, DM; Liu, W; NahabooSolim, MA; (2015) A Genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology. Cell Reports , 10 (4) 633 - 645. 10.1016/j.celrep.2014.12.041. Green open access
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Morgan, S; Shoai, M; Fratta, P; Sidle, K; Orrell, R; Sweeney, MG; Shatunov, A; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiol Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Morgan, S; Shoai, M; Hardy, J; Pittman, A; Houlden, H; Fratta, P; Sidle, K; (2015) Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging , 36 (3) 1600.e5 - 1600.e8. 10.1016/j.neurobiolaging.2014.12.017.

Rohrer, JD; Isaacs, AM; Mizielinska, S; Mead, S; Lashley, T; Wray, S; Sidle, K; (2015) C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Lancet Neurol , 14 (3) 291 - 301. 10.1016/S1474-4422(14)70233-9.

Rohrer, JD; Rossor, MN; Warren, JD; Isaacs, AM; Mizlienska, S; Fratta, P; Mead, S; (2015) C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet Neurology , 14 (3) 291 - 301. 10.1016/S1474-4422(14)70233-9.

Weller, RO; Carare, RO; Hawkes, CA; Hardy, J; (2015) Does the difference between PART and Alzheimer’s disease lie in the age-related changes in cerebral arteries that trigger the accumulation of Aβ and propagation of tau? Acta Neuropathologica 10.1007/s00401-015-1416-1.

Yu, D; Mathews, CA; Scharf, JM; Neale, BM; Davis, LK; Gamazon, ER; Derks, EM; (2015) Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry , 172 (1) 82 - 93. 10.1176/appi.ajp.2014.13101306.

2014

Andreasson, U; Lautner, R; Mattsson, N; Wallin, A; Blennow, K; Zetterberg, H; Schott, JM; (2014) CSF biomarkers for Alzheimer's pathology and the effect size of APOE ε4. Molecular Psychiatry , 19 (2) 148 - 149. 10.1038/mp.2013.18.

Andreasson, U; Lautner, R; Schott, JM; Mattsson, N; Hansson, O; Herukka, SK; Helisalmi, S; (2014) CSF biomarkers for Alzheimer's pathology and the effect size of APOE ɛ4. Mol Psychiatry , 19 (2) 148 - 149. 10.1038/mp.2013.18.

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; Rohrer, JD; (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Beecham, GW; Hamilton, K; Naj, AC; Martin, ER; Huentelman, M; Myers, AJ; Corneveaux, JJ; (2014) Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias. PLoS Genetics , 10 (9) , Article e1004606. 10.1371/journal.pgen.1004606. Green open access
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Beilina, A; Rudenko, IN; Kaganovich, A; Civiero, L; Chau, H; Kalia, SK; Kalia, LV; (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. 10.1073/pnas.1318306111.

Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; Sims, R; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging , 35 (6) 1510.e19 - 1510.e26. 10.1016/j.neurobiolaging.2013.12.010.

Benitez, BA; Jin, SC; Harari, O; Bertelsen, S; Goate, AM; Cruchaga, C; Fagan, AM; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2013.12.010.

Benitez, BA; Jin, SC; Harari, O; Bertelsen, S; Goate, AM; Cruchaga, C; Fagan, AM; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2013.12.010.

Berg, D; Gasser, T; Postuma, RB; Bloem, B; Chan, P; Dubois, B; Goetz, CG; (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. 10.1002/mds.25844.

Berg, D; Postuma, RB; Bloem, B; Chan, P; Dubois, B; Gasser, T; Goetz, CG; (2014) Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Mov Disord , 29 (4) 454 - 462. 10.1002/mds.25844.

Bettencourt, C; Ryten, M; Forabosco, P; Schorge, S; Hersheson, J; Hardy, J; Houlden, H; (2014) Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. JAMA Neurol , 71 (7) 831 - 839. 10.1001/jamaneurol.2014.756.

Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; Hernandez, DG; (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet , 23 (23) 6139 - 6146. 10.1093/hmg/ddu334. Green open access
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Cortese, A; Tucci, A; Piccolo, G; Galimberti, CA; Fratta, P; Marchioni, E; Grampa, G; (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology , 82 (23) 2072 - 2076. 10.1212/WNL.0000000000000490.

Cruchaga, C; Karch, CM; Jin, SC; Benitez, BA; Cai, Y; Guerreiro, R; Harari, O; (2014) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature , 505 (7484) 550 - 554. 10.1038/nature12825.

Dong, J; Gao, J; Nalls, M; Gao, X; Huang, X; Han, J; Singleton, AB; (2014) Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging , 35 (6) 1512.e5 - 1512.10. 10.1016/j.neurobiolaging.2013.12.020.

Erro, R; Bhatia, KP; Hardy, J; (2014) GNAL mutations and dystonia. JAMA Neurol , 71 (8) 1052 - 1053. 10.1001/jamaneurol.2014.1506.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2014) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 10.1002/mds.26129.

Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; Holmans, P; (2014) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One , 9 (6) , Article e94661. 10.1371/journal.pone.0094661. Green open access
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Ferrari, R; Hernandez, DG; Nalls, MA; Rohrer, JD; Ramasamy, A; Kwok, JB; Dobson-Stone, C; (2014) Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol , 13 (7) 686 - 699. 10.1016/S1474-4422(14)70065-1.

Ferrari, R; Kero, M; Mok, K; Paetau, A; Tienari, PJ; Tynninen, O; Hardy, J; (2014) Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiol Aging , 35 (2) 444.e11 - 444.e14. 10.1016/j.neurobiolaging.2013.08.021.

Ferrari, R; Momeni, P; Mok, K; Hardy, J; Kero, M; Paetau, A; Tynninen, O; (2014) A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.08.021.

Ferrari, R; Momeni, P; Simone, R; Nicolaou, N; Hondhamuni, G; Vandrovcova, J; Lees, AJ; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2014.01.010.

Ferrari, R; Momeni, P; Simone, R; Nicolaou, N; Hondhamuni, G; Vandrovcova, J; Lees, AJ; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2014.01.010.

Ferrari, R; Ryten, M; Simone, R; Trabzuni, D; Nicolaou, N; Hondhamuni, G; Ramasamy, A; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiol Aging , 35 (6) 1514.e1 - 1514.12. 10.1016/j.neurobiolaging.2014.01.010.

Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green open access
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Guerreiro, R; Brás, J; Hardy, J; Wojtas, A; Rademakers, R; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of Aging , 35 (11) 2656.e13 - e16. 10.1016/j.neurobiolaging.2014.05.013.

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 10.1016/j.neurobiolaging.2014.05.013.

Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. NEUROTHERAPEUTICS , 11 (4) 732 - 737. 10.1007/s13311-014-0295-9. Green open access
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Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. Neurotherapeutics , 11 (4) pp. 732-737. 10.1007/s13311-014-0295-9. Green open access
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Hardy, J; Bogdanovic, N; Winblad, B; Portelius, E; Andreasen, N; Cedazo-Minguez, A; Zetterberg, H; (2014) Pathways to Alzheimer's disease. J Intern Med , 275 (3) 296 - 303.

Hardy, J; Rogaeva, E; (2014) Motor neuron disease and frontotemporal dementia: Sometimes related, sometimes not. Experimental Neurology , 262 (PB) 75 - 83. 10.1016/j.expneurol.2013.11.006.

Hardy, J; Rogaeva, E; (2014) Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Exp Neurol , 262 Pt B 75 - 83. 10.1016/j.expneurol.2013.11.006.

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. 10.1111/joim.12192.

Johnson, JO; Pioro, EP; Boehringer, A; Chia, R; Feit, H; Renton, AE; Pliner, HA; (2014) Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci , 17 (5) 664 - 666. 10.1038/nn.3688.

Johnson, JO; Renton, AE; Pliner, HA; Marangi, G; Traynor, BJ; Pioro, EP; Boehringer, A; (2014) Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience , 17 (5) 664 - 666. 10.1038/nn.3688.

Kara, E; Bras, J; Wood, NW; Hardy, J; Houlden, H; Hernandez, D; Xiromerisiou, G; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.07.011.

Kara, E; Kiely, A; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4MB duplication of the alpha-synuclein locus causing frontotemporal dementia and Parkinsonism - phenotype-genotype correlations. MOVEMENT DISORDERS , 29 S54 - S54.

Kara, E; Kiely, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; Rantell, K; (2014) A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurology , 71 (9) 1162 - 1171. 10.1001/jamaneurol.2014.994.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; Dardiotis, E; (2014) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging , 35 (2) 442.e9 - 442.e16. 10.1016/j.neurobiolaging.2013.07.011.

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 , 76 (2) pp. 185-205. 10.1002/ana.24188. Green open access
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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. 10.1056/NEJMe1313943.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; Proukakis, C; (2014) How do G51D SNCA mutation cases compare clinically and neuropathologically to SNCA duplication and H50Q SNCA mutation? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 12).

Kleinberger, G; Yamanishi, Y; Suárez-Calvet, M; Czirr, E; Lohmann, E; Cuyvers, E; Struyfs, H; (2014) TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Sci Transl Med , 6 (243) 243ra86 - ?. 10.1126/scitranslmed.3009093.

Lange, LA; Hu, Y; Zhang, H; Xue, C; Schmidt, EM; Tang, ZZ; Bizon, C; (2014) Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet , 94 (2) 233 - 245. 10.1016/j.ajhg.2014.01.010.

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 40 - 41).

Ling, H; Kara, E; Revesz, T; Lees, AJ; Plant, GT; Martino, D; Houlden, H; (2014) Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathol Commun , 2 (1) , Article 24. 10.1186/2051-5960-2-24. Green open access
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Ling, H; Lees, A; Kara, E; de Silva, R; Li, A; Kiely, A; Courtney, R; (2014) Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 13 - 13).

Liu, G; Yao, L; Liu, J; Jiang, Y; Ma, G; Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium, ; Chen, Z; (2014) Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies. Neurobiol Aging , 35 (4) 786 - 792. 10.1016/j.neurobiolaging.2013.10.084.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. BRAIN , 137 2480 - 2492. 10.1093/brain/awu179.

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access
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Mencacci, NE; Pittman, AM; Isaias, IU; Hardy, J; Klebe, S; Bhatia, KP; Wood, NW; (2014) Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 10.1093/brain/awu309.

Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; Sims, R; (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 , 35 (11) 2659 - 2659. 10.1016/j.neurobiolaging.2014.06.017.

Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; Sims, R; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging , 35 (6) 1513.e1-1513.e5. 10.1016/j.neurobiolaging.2013.12.022. Green open access
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Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; Sims, R; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2013.12.022.

Mok, KY; Jones, EL; Hanney, M; Harold, D; Sims, R; Williams, J; Ballard, C; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome (vol 35, 1513.e1, 2014). NEUROBIOLOGY OF AGING , 35 (11) 2659 - 2659. 10.1016/j.neurobiolaging.2014.06.017.

Mok, KY; Jones, EL; Hanney, M; Harold, D; Sims, R; Williams, J; Ballard, C; (2014) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiol Aging , 35 (6) 1513.e1 - 1513.e5. 10.1016/j.neurobiolaging.2013.12.022.

Mok, KY; Schneider, SA; Trabzuni, D; Stamelou, M; Edwards, M; Kasperaviciute, D; Pickering-Brown, S; (2014) Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Mov Disord , 29 (2) pp. 245-251. 10.1002/mds.25732. Green open access
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Mok, KY; Trabzuni, D; Hardy, J; Schneider, SA; Stamelou, M; Edwards, M; Bhatia, KP; (2014) Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders , 29 (2) 245 - 251. 10.1002/mds.25732.

Naj, AC; Jun, G; Reitz, C; Kunkle, BW; Perry, W; Park, YS; Beecham, GW; (2014) Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurol , 71 (11) 1394 - 1404. 10.1001/jamaneurol.2014.1491.

Nalls, MA; Pankratz, N; Lill, CM; Do, CB; Hernandez, DG; Saad, M; DeStefano, AL; (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet , 46 (9) 989 - 993. 10.1038/ng.3043.

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Nalls, MA; Duran, R; Lopez, G; Kurzawa-Akanbi, M; McKeith, IG; Chinnery, PF; Morris, CM; (2013) A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol , 70 (6) 727 - 735. 10.1001/jamaneurol.2013.1925.

Noyce, AJ; Bestwick, JP; Silveira-Moriyama, L; Hawkes, CH; Knowles, C; Hardy, J; Giovannoni, G; (2013) PREDICT-PD study: Online screening algorithm identifying Parkinson's disease risk. MOVEMENT DISORDERS , 28 S389 - S389.

Noyce, AJ; Bestwick, JP; Silveira-Moriyama, L; Hawkes, CH; Knowles, CH; Hardy, J; Giovannoni, G; (2013) PREDICT-PD: Identifying risk of Parkinson's disease in the community: methods and baseline results. Journal of Neurology, Neurosurgery and Psychiatry , 85 (1) pp. 31-37. 10.1136/jnnp-2013-305420. Green open access
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Pittman, A; Hardy, J; (2013) Genetic analysis in neurology: the next 10 years. JAMA Neurol , 70 (6) 696 - 702. 10.1001/jamaneurol.2013.2068.

Ramasamy, A; Trabzuni, D; Gibbs, JR; Dillman, A; Hernandez, DG; Arepalli, S; Walker, R; (2013) Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research , 41 (7) , Article e88. 10.1093/nar/gkt069. Green open access
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Scahill, RI; Ridgway, GR; Bartlett, JW; Barnes, J; Ryan, NS; Mead, S; Beck, J; (2013) Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations. J Alzheimers Dis , 35 (1) 199 - 212. 10.3233/JAD-121255.

Scharf, JM; Yu, D; Mathews, CA; Neale, BM; Stewart, SE; Fagerness, JA; Evans, P; (2013) Genome-wide association study of Tourette's syndrome. MOLECULAR PSYCHIATRY , 18 (6) 721 - 728. 10.1038/mp.2012.69.

Scharf, JM; Yu, D; Mathews, CA; Neale, BM; Stewart, SE; Fagerness, JA; Evans, P; (2013) Genome-wide association study of Tourette's syndrome. In: Mol Psychiatry. (pp. 721 - 728).

Schneider, SA; Dusek, P; Hardy, J; Westenberger, A; Jankovic, J; Bhatia, KP; (2013) Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Curr Neuropharmacol , 11 (1) 59 - 79. 10.2174/157015913804999469.

Stewart, SE; Yu, D; Scharf, JM; Neale, BM; Fagerness, JA; Mathews, CA; Arnold, PD; (2013) Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry , 18 (7) 788 - 798. 10.1038/mp.2012.85.

Trabzuni, D; Ramasamy, A; Imran, S; Walker, R; Smith, C; Weale, ME; Hardy, J; (2013) Widespread sex differences in gene expression and splicing in the adult human brain. Nat Commun , 4 , Article 2771. 10.1038/ncomms3771. Green open access
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Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access
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Tucci, A; Kara, E; Fawcett, K; Lo, C-N; Shorvon, S; Hardy, J; Zschocke, J; (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. Human Mutation , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) 296 - 300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
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Udayar, V; Buggia-Prévot, V; Guerreiro, RL; Siegel, G; Rambabu, N; Soohoo, AL; Ponnusamy, M; (2013) A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production. Cell Rep , 5 (6) 1536 - 1551. 10.1016/j.celrep.2013.12.005.

Warren, JD; Rohrer, JD; Schott, JM; Fox, NC; Hardy, J; Rossor, MN; (2013) Molecular nexopathies: a new paradigm of neurodegenerative disease. Trends Neurosci , 36 (10) pp. 561-569. 10.1016/j.tins.2013.06.007. Green open access
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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. 10.1016/j.tins.2013.06.007.

Xiromerisiou, G; Dardiotis, E; Tsironi, EE; Hadjigeorgiou, G; Ralli, S; Kara, E; Petalas, A; (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015. Green open access
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2012

Blennow, K; Hardy, J; Zetterberg, H; (2012) The neuropathology and neurobiology of traumatic brain injury. Neuron , 76 (5) 886 - 899. 10.1016/j.neuron.2012.11.021.

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. 10.1038/nrn3271.

Casas, JP; Hingorani, AD; (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet , 379 (9822) 1214 - 1224. 10.1016/S0140-6736(12)60110-X. Green open access
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Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Gandhi, S; Bras, JM; Guerreiro, R; Hardy, J; Sheerin, U-M; Wood, NW; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 10.1016/j.neurobiolaging.2011.11.001.

Cooper-Knock, J; Hewitt, C; Highley, JR; Brockington, A; Milano, A; Man, S; Martindale, J; (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. Green open access
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Coppola, G; Chinnathambi, S; Lee, JJ; Dombroski, BA; Baker, MC; Soto-Ortolaza, AI; Lee, SE; (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. 10.1093/hmg/dds161.

Crehan, H; Hardy, J; Pocock, J; (2012) Microglia, Alzheimer's disease, and complement. Int J Alzheimers Dis , 2012 983640 - ?. 10.1155/2012/983640. Gold open access

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. 10.1016/j.imbio.2011.07.017.

Dobricic, V; Stefanova, E; Jankovic, M; Gurunlian, N; Novakovic, I; Hardy, J; Kostic, V; (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. 10.1016/j.neurobiolaging.2011.12.007.

Duran, R; Hardy, J; McNeill, A; Schapira, AHV; Mehta, A; Hughes, D; Cox, T; (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006.

Duran, R; McNeill, A; Mehta, A; Hughes, D; Cox, T; Deegan, P; Schapira, AH; (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006. Gold open access

Englund, E; Gustafson, L; Passant, U; Majounie, E; Renton, AE; Traynor, BJ; Rohrer, JD; (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol Aging , 33 (8) 1850.e13 - 1850.e16. 10.1016/j.neurobiolaging.2012.02.019.

Ferrari, R; Mok, K; Moreno, JH; Cosentino, S; Goldman, J; Pietrini, P; Mayeux, R; (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging , 33 (8) 1850.e1 - 1850.11.