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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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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...

Autophagy

LRRK2 and autophagy

Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...

GBA neurons

GBA and mitochondria

Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...

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 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.

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: 848.

2014

Andreasson, U; Lautner, R; Mattsson, N; Wallin, A; Blennow, K; Zetterberg, H; ... Hampel, H; + view all (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; ... Zetterberg, H; + view all (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.

Beilina, A; Rudenko, IN; Kaganovich, A; Civiero, L; Chau, H; Kalia, SK; ... Cookson, MR; + view all (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; Harari, O; Bertelsen, S; Goate, AM; Cruchaga, C; ... Amouyel, P; + view all (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; ... Amouyel, P; + view all (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; ... Deuschl, G; + view all (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; ... Deuschl, G; + view all (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.

Bettencourt, C; Ryten, M; Forabosco, P; Schorge, S; Hersheson, J; Hardy, J; ... for the United Kingdom Brain Expression Consortium,; + view all (2014) Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia. JAMA Neurol 10.1001/jamaneurol.2014.756.

Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; ... Hardy, J; + view all (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies. Hum Mol Genet 10.1093/hmg/ddu334.

Cortese, A; Tucci, A; Piccolo, G; Galimberti, CA; Fratta, P; Marchioni, E; ... Moggio, M; + view all (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 10.1212/WNL.0000000000000490.

Dong, J; Gao, J; Nalls, M; Gao, X; Huang, X; Han, J; ... International Parkinson's Disease Genomics Consortium (IPDGC),; + view all (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.

Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; ... Williams, J; + view all (2014) Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease. PLoS One , 9 (6) e94661 - ?. 10.1371/journal.pone.0094661.

Ferrari, R; Hernandez, DG; Nalls, MA; Rohrer, JD; Ramasamy, A; Kwok, JB; ... Momeni, P; + view all (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; Momeni, P; Mok, K; Hardy, J; Kero, M; Paetau, A; ... Verkkoniemi-Ahola, A; + view all (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; ... Weale, ME; + view all (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; ... Weale, ME; + view all (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; ... de Silva, R; + view all (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiol Aging 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 10.1093/hmg/ddu203.

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.

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; 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; ... Traynor, BJ; + view all (2014) Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci 10.1038/nn.3688.

Johnson, JO; Renton, AE; Pliner, HA; Marangi, G; Traynor, BJ; Pioro, EP; ... Sabatelli, M; + view all (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; ... Bostantjopoulou, S; + view all (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, AP; Proukakis, C; Giffin, N; Love, S; Hehir, J; ... Houlden, H; + view all (2014) A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism: Phenotype-Genotype Correlations. JAMA Neurol 10.1001/jamaneurol.2014.994.

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 10.1002/ana.24188.

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; ... Holton, JL; + view all (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; ... Haass, C; + view all (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; ... NHLBI Grand Opportunity Exome Sequencing Project,; + view all (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; ... Holton, JL; + view all (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; ... Holton, JL; + view all (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 and gold open access
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Ling, H; Lees, A; Kara, E; de Silva, R; Li, A; Kiely, A; ... Revesz, T; + view all (2014) Slowly progressive L-dopa responsive parkinsonism with neurofibrillary tangle pathology: A new clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 13 - 13).

Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; ... on behalf of the International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium,; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 10.1093/brain/awu179.

Mok, KY; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; ... Williams, J; + view all (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; Hardy, J; Jones, EL; Ballard, C; Hanney, M; Harold, D; ... Williams, J; + view all (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; Schneider, SA; Trabzuni, D; Stamelou, M; Edwards, M; Kasperaviciute, D; ... Bhatia, KP; + view all (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 and gold open access
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Mok, KY; Trabzuni, D; Hardy, J; Schneider, SA; Stamelou, M; Edwards, M; ... Silverdale, M; + view all (2014) Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders , 29 (2) 245 - 251. 10.1002/mds.25732.

Noyce, AJ; Silveira-Moriyama, L; Hardy, J; Lees, AJ; Bestwick, JP; Hawkes, CH; ... Schrag, A; + view all (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. 10.1136/jnnp-2013-305420.

Ramasamy, A; Weale, ME; Ryten, M; Trabzuni, D; Hardy, J; Forabosco, P; ... Sveinbjornsdottir, S; + view all (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. 10.1016/j.msard.2013.08.009.

Sassi, C; Guerreiro, R; Gibbs, R; Ding, J; Lupton, MK; Troakes, C; ... Hardy, J; + view all (2014) Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.04.026.

Thompson, PM; Hibar, DP; Jahanshad, N; Bowman, IJ; Ching, CRK; Dong, H; ... Drevets, W; + view all (2014) The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior , 8 (2) 153 - 182. 10.1007/s11682-013-9269-5.

Thompson, PM; Stein, JL; Medland, SE; Hibar, DP; Vasquez, AA; Renteria, ME; ... the Alzheimer’s Disease Neuroimaging Initiative, EPIGEN Consortium, IMAGEN Consortium, Saguenay Youth Study (SYS) Group,; + view all (2014) The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging Behav 10.1007/s11682-013-9269-5.

Tucci, A; Liu, Y-T; Preza, E; Pitceathly, RDS; Trabzuni, D; Ryten, M; ... Singleton, AB; + view all (2014) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery and Psychiatry , 85 (5) 486 - 492. 10.1136/jnnp-2013-306387.

Wiethoff, S; Bettencourt, C; Hardy, J; Houlden, H; Xiromerisiou, G; Tsiptsios, I; ... Makris, V; + view all (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. 10.1016/j.jns.2014.01.034.

Wiethoff, S; Xiromerisiou, G; Bettencourt, C; Kioumi, A; Tsiptsios, I; Tychalas, A; ... Houlden, H; + view all (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 10.1016/j.jns.2014.01.034.

2013

Ahmed, R; Guerreiro, R; Rohrer, JD; Guven, G; Rossor, MN; Hardy, J; Fox, NC; (2013) A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences , 332 (1-2) pp. 141-144. 10.1016/j.jns.2013.06.007. Green and gold open access
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Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; ... Foltynie, T; + view all (2013) Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders , 28 (10) pp. 1370-1375. 10.1002/mds.25535. Green open access
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Bartolome, F; Wu, H-C; Burchell, VS; Preza, E; Wray, S; Houlden, H; ... Mandrioli, J; + view all (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; ... Plun-Favreau, H; + view all (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; ... Mead, S; + view all (2013) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging 10.1016/j.neurobiolaging.2013.07.017.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; ... Mead, S; + view all (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. 10.1016/j.ajhg.2013.01.011.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; ... Mead, S; + view all (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. 10.1016/j.ajhg.2013.01.011.

Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; ... Cruchaga, C; + view all (2013) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2013.12.010.

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. Journal of Neurology , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6. Green and gold open access
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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 10.1007/s00415-013-7044-6.

Burchell, VS; Delgado-Camprubi, M; Wray, S; Lewis, PA; Houlden, H; Abramov, AY; ... Whitworth, AJ; + view all (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; ... Plun-Favreau, H; + view all (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci 10.1038/nn.3489.

Cleeter, MW; Chau, KY; Gluck, C; Mehta, A; Hughes, DA; Duchen, M; ... Schapira, AH; + view all (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int , 62 (1) 1 - 7. 10.1016/j.neuint.2012.10.010. Gold open access

Crehan, H; Hardy, J; Pocock, J; (2013) Blockage of CR1 prevents activation of rodent microglia. Neurobiol Dis , 54 139 - 149. 10.1016/j.nbd.2013.02.003.

Cruchaga, C; Karch, CM; Jin, SC; Benitez, BA; Cai, Y; Guerreiro, R; ... Goate, AM; + view all (2013) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 10.1038/nature12825.

Doherty, KM; Hardy, J; (2013) Parkin disease and the Lewy body conundrum. Movement Disorders , 28 (6) pp. 702-704. 10.1002/mds.25486. Green and gold open access
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Doherty, KM; Moriyama, LS; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2013) Parkin disease-a clinicopathological entity? J Neurol Neurosurg Psychiatry , 84 (11) e2 - ?. 10.1136/jnnp-2013-306573.13.

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2013) Parkin disease: a clinicopathologic entity? JAMA Neurol , 70 (5) 571 - 579. 10.1001/jamaneurol.2013.172.

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2013) Parkin disease - a clinicopathological entity? In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 11 - 12).

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; ... Holton, JL; + view all (2013) Parkin disease: A clinicopathologic entity? JAMA Neurology , 70 (5) 571 - 579.

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; ... Foltynie, T; + view all (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Mov Disord , 28 (2) 232 - 236. 10.1002/mds.25248.

Duran, R; Mencacci, NE; Shoai, M; Deas, E; Houlden, H; Lees, AJ; ... Deegan, P; + view all (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green and gold open access
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Ferrari, R; Kero, M; Mok, K; Paetau, A; Tienari, PJ; Tynninen, O; ... Myllykangas, L; + view all (2013) A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiol Aging 10.1016/j.neurobiolaging.2013.08.021.

Forabosco, P; Ramasamy, A; Trabzuni, D; Bras, J; Hardy, J; Guerreiro, R; ... Pocock, JM; + view all (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging , 34 (12) 2699 - 2714. 10.1016/j.neurobiolaging.2013.05.001.

Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; ... Ryten, M; + view all (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging 10.1016/j.neurobiolaging.2013.05.001.

Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; ... Fisher, EM; + view all (2013) Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry , 85 pp. 506-508. 10.1136/jnnp-2013-306761. Green and gold open access
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Guerreiro, R; Brás, J; Hardy, J; (2013) SnapShot: Genetics of Alzheimer's Disease. Cell , 155 (4) 968 - 968.e1. 10.1016/j.cell.2013.10.037.

Guerreiro, R; Hardy, J; (2013) TREM2 and neurodegenerative disease. N Engl J Med , 369 (16) 1569 - 1570.

Guerreiro, R; Hardy, J; (2013) Drs. Kuerreiro and Hardy reply. New England Journal of Medicine , 369 (16) 1569 - 1570. 10.1056/NEJMc1306509.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; ... Houlden, H; + view all (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; ... Alzheimer Genetic Analysis Group,; + view all (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; ... Grp, AGA; + view all (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; ... Hardy, J; + view all (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. 10.1001/jamaneurol.2013.579.

Hardy, J; (2013) The ignoble art. NEW SCIENTIST , 219 (2929) 26 - 27.

Hardy, J; (2013) Psychiatric Genetics Are We There Yet? JAMA PSYCHIATRY , 70 (6) 569 - 570. 10.1001/jamapsychiatry.2013.216.

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. 10.1002/mds.25415.

Hardy, J; (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 28 (4) 561 - 562. 10.1002/mds.25415.

Hardy, J; Rogaeva, E; (2013) Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Exp Neurol 10.1016/j.expneurol.2013.11.006.

Harold, D; Abraham, R; Hollingworth, P; Sims, R; Gerrish, A; Hamshere, ML; ... Williams, J; + view all (2013) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet , 45 (6) 712 - ?. 10.1038/ng0613-712a.

Hayflick, SJ; Kruer, MC; Gregory, A; Haack, TB; Kurian, MA; Houlden, HH; ... Hogarth, P; + view all (2013) Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 10.1093/brain/awt095.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; ... Houlden, H; + view all (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) 546 - 553. 10.1002/ana.23832.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; ... Houlden, H; + view all (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology , 73 (4) 546 - 553.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; International Parkinson's Disease Genomics Consortium,; Vedernikov, A; ... Williams, NM; + view all (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. 10.1093/hmg/dds492.

Holmans, P; Moskvina, V; Jones, L; Sharma, M; The International Parkinson's Disease Genomics Consortium (IPDGC),; Vedernikov, A; ... Williams, NM; + view all (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 10.1093/hmg/ddt554.

Holton, P; Ryten, M; Nalls, M; Trabzuni, D; Weale, ME; Hernandez, D; ... Guerreiro, R; + view all (2013) Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet , 77 (2) 85 - 105. 10.1111/ahg.12000.

Holton, P; Ryten, M; Trabzuni, D; Hernandez, D; Crehan, H; Gibbs, JR; ... Reiman, EM; + view all (2013) Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci. Annals of Human Genetics , 77 (2) 85 - 105. 10.1111/ahg.12000.

Hudson, G; Nalls, M; Evans, JR; Breen, DP; Winder-Rhodes, S; Morrison, KE; ... Chinnery, PF; + view all (2013) Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology , 80 (22) 2042 - 2048. 10.1212/WNL.0b013e318294b434.

Jenner, P; Morris, HR; Robbins, TW; Goedert, M; Hardy, J; Ben-Shlomo, Y; ... Grp, PUKD; + view all (2013) Parkinson's Disease - the Debate on the Clinical Phenomenology, Aetiology, Pathology and Pathogenesis. JOURNAL OF PARKINSONS DISEASE , 3 (1) 1 - 11. 10.3233/JPD-130175.

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: Nosology, aetiology and pathogenesis. Current Opinion in Neurology , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83.

Kara, E; Hardy, J; Houlden, H; (2013) The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Curr Opin Neurol , 26 (4) 381 - 394. 10.1097/WCO.0b013e3283632e83.

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. 10.1016/j.neulet.2013.04.058.

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.

Kara, E; Xiromerisiou, G; Spanaki, C; Bozi, M; Koutsis, G; Panas, M; ... Singleton, AB; + view all (2013) Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging 10.1016/j.neurobiolaging.2013.07.011.

Keller, MF; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simon-Sanchez, J; ... WTCCC2,; + view all (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. 10.1093/hmg/ddt199.

Keller, MF; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simon-Sanchez, J; ... WTCCC2,; + view all (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. 10.1093/hmg/ddt030.

Khan, TA; Shah, T; Prieto, D; Zhang, W; Price, J; Fowkes, GR; ... Casas, JP; + view all (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. 10.1093/ije/dyt034.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) Clinical and neuropathological features of synucleinopathy associated with G51D SNCA mutation. MOVEMENT DISORDERS , 28 S277 - S277.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7. Green and gold open access
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Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta neuropathologica , 125 (5) 753 - 769. 10.1007/s00401-013-1096-7.

Kiely, AP; Asi, YT; Kara, E; Limousin, P; Ling, H; Lewis, P; ... Holton, JL; + view all (2013) Synucleinopathy with a G51D a-synuclein mutation: a neuropathological and genetic study. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 39 - 40).

Klebe, S; Golmard, JL; Nalls, MA; Saad, M; Singleton, AB; Bras, JM; ... Wood, NW; + view all (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. 10.1136/jnnp-2012-304475. Green and gold open access
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Kumar, A; Gibbs, JR; Beilina, A; Dillman, A; Kumaran, R; Trabzuni, D; ... Cookson, MR; + view all (2013) Age-associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging , 34 (4) 1199 - 1209. 10.1016/j.neurobiolaging.2012.10.021.

Kumar, A; Gibbs, JR; Beilina, A; Dillman, A; Kumaran, R; Traynor, BJ; ... Smith, C; + view all (2013) Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of Aging , 34 (4) 1199 - 1209. 10.1016/j.neurobiolaging.2012.10.021.

Lambert, JC; Ibrahim-Verbaas, CA; Harold, D; Naj, AC; Sims, R; Bellenguez, C; ... Amouyel, P; + view all (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 10.1038/ng.2802.

Lashley, T; Hardy, J; Isaacs, AM; (2013) RANTing about C9orf72. Neuron , 77 (4) 597 - 598. 10.1016/j.neuron.2013.02.009. Green and gold open access
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Le Ber, I; Camuzat, A; Guerreiro, R; Bouya-Ahmed, K; Bras, J; Nicolas, G; ... for the French Clinical and Genetic Research Network on FTD/FTD-ALS,; + view all (2013) SQSTM1 Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis. JAMA Neurol 10.1001/jamaneurol.2013.3849.

Li, A; Paudel, R; Johnson, R; Courtney, R; Lees, AJ; Holton, JL; ... Houlden, H; + view all (2013) Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology , 39 (2) pp. 121-131. 10.1111/j.1365-2990.2012.01269.x. Green and gold open access
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Ling, H; Kara, E; Bandopadhyay, R; Hardy, J; Holton, J; Xiromerisiou, G; ... Revesz, T; + view all (2013) TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiol Aging , 34 (12) 2889.e5 - 2889.e9. 10.1016/j.neurobiolaging.2013.04.011.

Liu, G; Yao, L; Liu, J; Jiang, Y; Ma, G; the Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium,; ... Li, K; + view all (2013) Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies. Neurobiol Aging 10.1016/j.neurobiolaging.2013.10.084.

Mann, DMA; Hardy, J; (2013) Amyloid or tau: the chicken or the egg? ACTA NEUROPATHOLOGICA , 126 (4) 609 - 613. 10.1007/s00401-013-1162-1.

Manzoni, C; Mamais, A; Dihanich, S; Devine, MJ; Kara, E; Plun-Favreau, H; ... Tooze, S; + view all (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. 10.1016/j.bbrc.2013.10.159.

Manzoni, C; Mamais, A; Dihanich, S; McGoldrick, P; Devine, MJ; Zerle, J; ... Lewis, PA; + view all (2013) Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochem Biophys Res Commun 10.1016/j.bbrc.2013.10.159.

Mok, K; Laaksovirta, H; Tienari, PJ; Peuralinna, T; Myllykangas, L; Chiò, A; ... Orrell, RW; + view all (2013) Homozygosity analysis in amyotrophic lateral sclerosis. European Journal of Human Genetics , 21 (12) 1429 - 1435. 10.1038/ejhg.2013.59.

Mok, KY; Jones, EL; Hanney, M; Harold, D; Sims, R; Williams, J; ... Hardy, J; + view all (2013) Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiol Aging 10.1016/j.neurobiolaging.2013.12.022.

Moskvina, V; Harold, D; Russo, G; Vedernikov, A; Sharma, M; Saad, M; ... Williams, NM; + view all (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 10.1001/jamaneurol.2013.448.

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

Nalls, MA; Saad, M; Noyce, AJ; Keller, MF; Schrag, A; Bestwick, JP; ... the United Kingdom Brain Expression Consortium (UKBEC),; + view all (2013) Genetic comorbidities in Parkinson's disease. Hum Mol Genet 10.1093/hmg/ddt465.

Noyce, AJ; Bestwick, JP; Silveira-Moriyama, L; Hawkes, CH; Knowles, C; Hardy, J; ... Schrag, A; + view all (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; ... Schrag, A; + view all (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; ... Weale, ME; + view all (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 and gold open access
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Ramasamy, A; Weale, ME; Ryten, M; Trabzuni, D; Hardy, J; Forabosco, P; ... Sveinbjornsdottir, S; + view all (2013) Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders 10.1016/j.msard.2013.08.009.

Scahill, RI; Ridgway, GR; Bartlett, JW; Barnes, J; Ryan, NS; Mead, S; ... Fox, NC; + view all (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; ... Pauls, DL; + view all (2013) Genome-wide association study of Tourette's syndrome. In: Mol Psychiatry. (pp. 721 - 728).

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

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; ... Pauls, DL; + view all (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; ... North American Brain Expression Consortium,; + view all (2013) Widespread sex differences in gene expression and splicing in the adult human brain. Nat Commun , 4 , Article 2771 . 10.1038/ncomms3771. Green and gold open access
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Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; ... Plagnol, V; + view all (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 and gold open access
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Tucci, A; Kara, E; Fawcett, K; Lo, C-N; Shorvon, S; Hardy, J; ... Hayes, I; + view all (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; ... Houlden, H; + view all (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; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green and gold open access
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Udayar, V; Buggia-Prévot, V; Guerreiro, RL; Siegel, G; Rambabu, N; Soohoo, AL; ... Rajendran, L; + view all (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 10.1016/j.tins.2013.06.007.

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; ... Houlden, H; + view all (2013) THAP1 mutations in a Greek primary blepharospasm series. Parkinsonism & Related Disorders , 19 (3) 404 - 405. 10.1016/j.parkreldis.2012.08.015. Green and gold 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 and gold open access
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Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; ... Wood, NW; + view all (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; ... Morris, H; + view all (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; ... Shaw, PJ; + view all (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. Green and gold open access
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Coppola, G; Chinnathambi, S; Lee, JJ; Dombroski, BA; Baker, MC; Soto-Ortolaza, AI; ... Geschwind, DH; + view all (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; ... Guerreiro, R; + view all (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; ... Deegan, P; + view all (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; ... Hardy, J; + view all (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; ... Hardy, J; + view all (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. NEUROBIOLOGY OF AGING , 33 (8) , Article ARTN 1850.e13. 10.1016/j.neurobiolaging.2012.02.019.

Ferrari, R; Mok, K; Moreno, JH; Cosentino, S; Goldman, J; Pietrini, P; ... Momeni, P; + view all (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging , 33 (8) 1850.e1 - 1850.11. 10.1016/j.neurobiolaging.2012.02.017.

Ferrari, R; Moreno, JH; Momeni, P; Mok, K; Hardy, J; Cosentino, S; ... Ghetti, B; + view all (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging , 33 (8) 10.1016/j.neurobiolaging.2012.02.017.

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 10.3389/fneur.2012.00136. Gold open access

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. 10.1002/ana.23614.

Gerrish, A; Russo, G; Richards, A; Moskvina, V; Ivanov, D; Harold, D; ... Pankratz, VS; + view all (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. 10.3233/JAD-2011-110824.

Gerrish, A; Russo, G; Richards, A; Moskvina, V; Ivanov, D; Harold, D; ... Williams, J; + view all (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

Goate, A; Hardy, J; (2012) Twenty years of Alzheimer's disease-causing mutations. J Neurochem , 120 Suppl 1 3 - 8. 10.1111/j.1471-4159.2011.07575.x.

Guerreiro, RJ; Gustafson, DR; Hardy, J; (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiology of Disease , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025. Green and gold open access
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Guerreiro, RJ; Hardy, J; (2012) TOMM40 Association With Alzheimer Disease Tales of APOE and Linkage Disequilibrium. ARCHIVES OF NEUROLOGY , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Haack, TB; Cuno, SM; Strom, TM; Meitinger, T; Prokisch, H; Wieland, T; ... Boddaert, N; + view all (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. 10.1016/j.ajhg.2012.10.019.

Haack, TB; Hogarth, P; Kruer, MC; Gregory, A; Wieland, T; Schwarzmayr, T; ... Hayflick, SJ; + view all (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. 10.1016/j.ajhg.2012.10.019.

Hardy, J; (2012) CSF biomarking for diagnosis and treatment assessment in neurodegeneration. JOURNAL OF NEUROCHEMISTRY , 123 (3) 339 - 341. 10.1111/j.1471-4159.2012.07928.x.

Hardy, J; (2012) Genetic analysis of disease in the era of whole genome analysis and public databases. Neurobiol Aging , 33 (4) 635 - ?. 10.1016/j.neurobiolaging.2011.12.039.

Hardy, J; Revesz, T; (2012) The spread of neurodegenerative disease. N Engl J Med , 366 (22) 2126 - 2128. 10.1056/NEJMcibr1202401.

Hernandez, DG; Nalls, MA; Moore, M; Chong, S; Dillman, A; Trabzuni, D; ... Cookson, MR; + view all (2012) Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease , 47 (1) 20 - 28. 10.1016/j.nbd.2012.03.020. Green and gold open access
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Hernandez, DG; Nalls, MA; Ylikotila, P; Keller, M; Hardy, JA; Majamaa, K; Singleton, AB; (2012) Genome Wide Assessment of Young Onset Parkinson's Disease from Finland. PLOS ONE , 7 (7) , Article e41859. 10.1371/journal.pone.0041859. Green and gold open access
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Huey, ED; Ferrari, R; Moreno, JH; Jensen, C; Morris, CM; Potocnik, F; ... Momeni, P; + view all (2012) FUS and TDP43 genetic variability in FTD and CBS. NEUROBIOLOGY OF AGING , 33 (5) , Article ARTN 1016.e9. 10.1016/j.neurobiolaging.2011.08.004.

Kara, E; Ling, H; Pittman, AM; Shaw, K; de Silva, R; Simone, R; ... Revesz, T; + view all (2012) The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobioly of Aging , 33 (9) 2231.e7 - 2231.e14. 10.1016/j.neurobiolaging.2012.04.006. Green and gold open access
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Keenan, BT; Shulman, JM; Chibnik, LB; Raj, T; Tran, D; Sabuncu, MR; ... Neuroimaging, AD; + view all (2012) A coding variant in CR1 interacts with APOE-?4 to influence cognitive decline. HUMAN MOLECULAR GENETICS , 21 (10) 2377 - 2388. 10.1093/hmg/dds054.

Keller, MF; Saad, M; Bras, J; Bettella, F; Nicolaou, N; Simón-Sánchez, J; ... Wellcome Trust Case Control Consortium 2 (WTCCC2),; + view all (2012) Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet , 21 (22) 4996 - 5009. 10.1093/hmg/dds335.

Kojovic, M; Sheerin, U; Rubio-Agusti, I; Bras, J; Wood, N; Houlden, H; ... Bhatia, K; + view all (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan. In: NEUROLOGY.

Kojovic, M; Sheerin, UM; Rubio-Agusti, I; Saha, A; Bras, J; Gibbons, V; ... Bhatia, KP; + view all (2012) Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Mov Disord , 27 (14) 1827 - 1829. 10.1002/mds.25199.

Kruer, MC; Hayflick, SJ; Paudel, R; Kara, E; Foltynie, T; Lees, A; ... Gregory, A; + view all (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters , 523 (1) 35 - 38. 10.1016/j.neulet.2012.06.036.

Kruer, MC; Paudel, R; Wagoner, W; Sanford, L; Kara, E; Gregory, A; ... Houlden, H; + view all (2012) Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neurosci Lett , 523 (1) 35 - 38. 10.1016/j.neulet.2012.06.036.

Lescai, F; Bonfiglio, S; Bacchelli, C; Chanudet, E; Waters, A; Sisodiya, SM; ... Stupka, E; + view all (2012) Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One , 7 (12) , Article e51292 . 10.1371/journal.pone.0051292. Green and gold open access
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Lill, CM; Roehr, JT; McQueen, MB; Kavvoura, FK; Bagade, S; Schjeide, B-MM; ... WTCCC2,; + view all (2012) Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLOS GENETICS , 8 (3) , Article e1002548. 10.1371/journal.pgen.1002548. Green and gold open access
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Mahoney, CJ; Beck, J; Rohrer, JD; Lashley, T; Mok, K; Shakespeare, T; ... Warren, JD; + view all (2012) Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain , 135 (3) 736 - 750. 10.1093/brain/awr361. Green and gold open access
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Majounie, E; Abramzon, Y; Renton, AE; Perry, R; Bassett, SS; Pletnikova, O; ... Traynor, BJ; + view all (2012) Repeat Expansion in C9ORF72 in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 366 (3) 283 - 284. 10.1056/NEJMc1113592.

Majounie, E; Renton, AE; Mok, K; Dopper, EG; Waite, A; Rollinson, S; ... Traynor, BJ; + view all (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurology , 11 (4) 323 - 330. 10.1016/S1474-4422(12)70043-1. Green and gold open access
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Matsuki, T; Zaka, M; Guerreiro, R; van der Brug, MP; Cooper, JA; Cookson, MR; ... Howell, BW; + view all (2012) Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. PLoS One , 7 (2) , Article e31152 . 10.1371/journal.pone.0031152. Green and gold open access
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McNaughton, D; Knight, W; Guerreiro, R; Ryan, N; Lowe, J; Poulter, M; ... Mead, S; + view all (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. Neurobioly of Aging , 33 (2) 426.e13 - 426.e21. 10.1016/j.neurobiolaging.2010.10.010. Green and gold open access
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McNeill, A; Duran, R; Proukakis, C; Bras, J; Hughes, D; Mehta, A; ... Schapira, AH; + view all (2012) Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord , 27 (4) 526 - 532. 10.1002/mds.24945.

Mead, S; Beck, J; Poulter, M; Rohrer, J; Adamson, G; Hensman, D; ... Collinge, J; + view all (2012) Large C9ORF72 hexanucleotide expansions arise spontaneously in the healthy population but can be distinguished from pathogenic mutations by Sothern Blotting. In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. (pp. 285 - 286).

Mittag, F; Büchel, F; Jahn, A; Zell, A; Saad, M; Martinez, M; ... Brice, A; + view all (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities. Human Mutation , 33 (12) 1708 - 1718. 10.1002/humu.22161.

Mittag, F; Büchel, F; Saad, M; Jahn, A; Schulte, C; Bochdanovits, Z; ... International Parkinson’s Disease Genomics Consortium,; + view all (2012) Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat , 33 (12) 1708 - 1718. 10.1002/humu.22161.

Mok, K; Traynor, BJ; Schymick, J; Tienari, PJ; Laaksovirta, H; Peuralinna, T; ... Hardy, J; + view all (2012) Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Disease , 33 (1) 209.e3 - 209.e8. 10.1016/j.neurobiolaging.2011.08.005. Green and gold open access
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Noyce, A; Bestwick, J; Hawkes, CH; Knowles, CH; Hardy, J; Lees, AJ; ... Schrag, A; + view all (2012) AN ALGORITHM TO IDENTIFY INDIVIDUALS AT HIGH-RISK OF PARKINSON'S DISEASE IN THE COMMUNITY. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Noyce, A; Silveira-Moriyama, L; Lees, AJ; Schrag, A; Bestwick, J; Hawkes, CH; ... Knowles, CH; + view all (2012) A PILOT STUDY OF AN ALGORITHM DESIGNED TO IDENTIFY PARKINSON'S DISEASE IN THE EARLY, NON-MOTOR PHASE. In: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY.

Paisán-Ruiz, C; Li, A; Schneider, SA; Holton, JL; Johnson, R; Kidd, D; ... Houlden, H; + view all (2012) Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging , 33 (4) 814 - 823. 10.1016/j.neurobiolaging.2010.05.009.

Papkovskaia, TD; Chau, KY; Inesta-Vaquera, F; Papkovsky, DB; Healy, DG; Nishio, K; ... Cooper, JM; + view all (2012) G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet , 21 (19) 4201 - 4213. 10.1093/hmg/dds244. Gold open access

Patani, R; Lewis, PA; Trabzuni, D; Puddifoot, CA; Wyllie, DJ; Walker, R; ... Ryten, M; + view all (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. 10.1111/j.1471-4159.2012.07825.x.

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. 10.1111/j.1365-2990.2012.01298.x.

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. 10.1111/j.1365-2990.2012.01298.x.

Pittman, A; Mencacci, N; Sheerin, U; Charlesworth, G; Deborah, H; Haworth, A; ... Lees, A; + view all (2012) A comprehensive diagnostic test for familial and early onset Parkinson's disease based on next-generation sequencing. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

Polke, J; Mok, K; Poulter, M; Lashley, T; Beck, J; Wood, NW; ... Houlden, H; + view all (2012) Diagnostic testing for the frontotemporal dementia/amyotrophic lateral sclerosis (GGGGCC)n expansion in C9orf72. In: JOURNAL OF MEDICAL GENETICS. (pp. S122 - S122).

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) , Article e40569. 10.1371/journal.pone.0040569. Green and gold open access
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Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; ... Houlden, H; + view all (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e. Gold open access

Scharf, J; Yu, D; Mathews, C; Neale, B; Stewart, E; Fagerness, J; ... Pauls, D; + view all (2012) Genome-Wide Association Study of Gilles de la Tourette Syndrome. In: NEUROLOGY.

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. 10.1002/mds.23971.

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. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 40 - 40).

Setó-Salvia, N; Pagonabarraga, J; Houlden, H; Pascual-Sedano, B; Dols-Icardo, O; Tucci, A; ... Clarimón, J; + view all (2012) Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Mov Disord , 27 (3) 393 - 399. 10.1002/mds.24045.

Simon-Sanchez, J; Kilarski, LL; Nalls, MA; Martinez, M; Schulte, C; Holmans, P; ... Consor, WTCC; + view all (2012) Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease. PLOS ONE , 7 (3) , Article e28787. 10.1371/journal.pone.0028787. Green and gold open access
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Stamelou, M; Mencacci, NE; Cordivari, C; Batla, A; Wood, NW; Houlden, H; ... Bhatia, KP; + view all (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology , 79 (5) 435 - 441. 10.1212/WNL.0b013e318261714a. Gold open access

Stein, JL; Medland, SE; Vasquez, AA; Hibar, DP; Senstad, RE; Winkler, AM; ... Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium,; + view all (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet , 44 (5) 552 - 561. 10.1038/ng.2250.

Stein, JL; Medland, SE; Vasquez, AA; Hibar, DP; Senstad, RE; Winkler, AM; ... Enhancing Neuro Imaging Genetics through Meta-Analysis Consortium,; + view all (2012) Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet , 44 (5) 552 - 561. 10.1038/ng.2250.

Swaminathan, S; Huentelman, MJ; Corneveaux, JJ; Myers, AJ; Faber, KM; Foroud, T; ... Grp, NIA-LOADNCRADFS; + view all (2012) Analysis of Copy Number Variation in Alzheimer's Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals. PLOS ONE , 7 (12) , Article e50640. 10.1371/journal.pone.0050640. Green and gold open access
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Trabzuni, D; Ryten, M; Walker, R; Smith, C; Imran, S; Ramasamy, A; ... Hardy, J; + view all (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. 10.1111/j.1471-4159.2011.07602.x.

Trabzuni, D; Wray, S; Vandrovcova, J; Ramasamy, A; Walker, R; Smith, C; ... Ryten, M; + view all (2012) MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics , 21 (18) 4094 -4103. 10.1093/hmg/dds238. Green and gold open access
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Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033.

Warren, JD; Rohrer, JD; Hardy, J; (2012) Disintegrating brain networks: from syndromes to molecular nexopathies. Neuron , 73 (6) 1060 - 1062. 10.1016/j.neuron.2012.03.006. Gold open access

Wray, S; Self, M; NINDS Parkinson's Disease iPSC Consortium,; NINDS Huntington's Disease iPSC Consortium,; NINDS ALS iPSC Consortium,; Lewis, PA; ... Hardy, J; + view all (2012) Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLOS One , 7 (8) , Article e43099. 10.1371/journal.pone.0043099. Green and gold open access
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Xiromerisiou, G; Houlden, H; Kara, E; Hardy, J; Lees, AJ; Paudel, R; ... Scarmeas, N; + view all (2012) THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations. Movement Disorders , 27 (10) 1290 - 1294. 10.1002/mds.25146.

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 - ?. 10.1002/mds.24924.

Xiromerisiou, G; Houlden, H; Scarmeas, N; Stamelou, M; Kara, E; Hardy, J; ... Bhatia, KP; + view all (2012) THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord , 27 (10) 1290 - 1294. 10.1002/mds.25146.

2011

Balazs, R; Vernon, J; Hardy, J; (2011) Epigenetic mechanisms in Alzheimer's disease: progress but much to do. NEUROBIOL AGING , 32 (7) 1181 - 1187. 10.1016/j.neurobiolaging.2011.02.024.

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 - +. 10.1136/jnnp.2009.200808.

Chibnik, LB; Shulman, JM; Leurgans, SE; Schneider, JA; Wilson, RS; Tran, D; ... De Jager, PL; + view all (2011) CR1 Is Associated with Amyloid Plaque Burden and Age-Related Cognitive Decline. ANN NEUROL , 69 (3) 560 - 569. 10.1002/ana.22277.

Crehan, H; Pocock, JM; Hardy, J; (2011) THE ROLE OF MICROGLIAL COMPLEMENT RECEPTOR 1 (CR1) IN ALZHEIMER'S DISEASE. In: GLIA. (pp. S135 - S135). WILEY-BLACKWELL

Devine, MJ; Gwinn, K; Singleton, A; Hardy, J; (2011) Parkinson's Disease and alpha-Synuclein Expression. MOVEMENT DISORD , 26 (12) 2160 - 2168. 10.1002/mds.23948.

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; ... Lewis, PA; + view all (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. Green and gold open access
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Devine, MJ; Ryten, M; Vodicka, P; Thomson, AJ; Burdon, T; Houlden, H; ... Kunath, T; + view all (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. Gold open access

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. 10.1007/s12031-011-9635-y.

Gasser, T; Hardy, J; Mizuno, Y; (2011) Milestones in PD Genetics. MOVEMENT DISORD , 26 (6) 1042 - 1048. 10.1002/mds.23637.

Guerreiro, RJ; Hardy, J; (2011) Alzheimer's disease genetics: lessons to improve disease modelling. BIOCHEM SOC T , 39 910 - 916. 10.1042/BST0390910.

Gwinn, K; Devine, MJ; Jin, LW; Johnson, J; Bird, T; Muenter, M; ... Singleton, A; + view all (2011) Clinical Features, with Video Documentation, of the Original Familial Lewy Body Parkinsonism Caused By alpha-Synuclein Triplication (Iowa Kindred). MOVEMENT DISORD , 26 (11) 2134 - 2136. 10.1002/mds.23776.

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. 10.1002/emmm.201100139. Gold open access

Hardy, J; Guerreiro, R; Lovestone, S; (2011) Clusterin as an Alzheimer biomarker. Arch Neurol , 68 (11) 1459 - 1460. 10.1001/archneurol.2011.1000.

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.

Hardy, J; Low, NC; (2011) Genes and Environment in Psychiatry Winner's Curse or Cure? ARCH GEN PSYCHIAT , 68 (5) 455 - 456.

Hardy, J; Thompson, AJ; (2011) Dissecting the Familial Risk of Multiple Sclerosis. ANN NEUROL , 69 (1) 11 - 12. 10.1002/ana.22353.

Hoglinger, GU; Melhem, NM; Dickson, DW; Sleiman, PMA; Wang, LS; Klei, L; ... PSP Genetics Study Grp,; + view all (2011) Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. NAT GENET , 43 (7) 699 - U125. 10.1038/ng.859.

Hollingworth, P; Harold, D; Sims, R; Gerrish, A; Lambert, JC; Carrasquillo, MM; ... EADI1 Consortium,; + view all (2011) Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. NAT GENET , 43 (5) 429 - +. 10.1038/ng.803.

Holmes, MV; Newcombe, P; Hubacek, JA; Sofat, R; Ricketts, SL; Cooper, J; ... Casas, JP; + view all (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. 10.1016/S0140-6736(11)60872-6. Gold open access

Marelli, C; van de Leemput, J; Johnson, JO; Tison, F; Thauvin-Robinet, C; Picard, F; ... Brice, A; + view all (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; ... Siblings Ischemic Stroke Study,; + view all (2011) Siblings With Ischemic Stroke Study Results of a Genome-Wide Scan for Stroke Loci. STROKE , 42 (10) 2726 - U83. 10.1161/STROKEAHA.111.620484.

Meschia, JF; Nalls, MA; Rich, SS; Singleton, A; Hardy, JA; Brott, TG; ... SWISS Investigators,; + view all (2011) Genome-wide Search for Ischemic Stroke Genes: The Siblings with Ischemic Stroke Study (SWISS). In: STROKE. (pp. E269 - E269). LIPPINCOTT WILLIAMS & WILKINS

Meschia, JF; Singleton, A; Nalls, MA; Rich, SS; Sharma, P; Ferrucci, L; ... Worrall, BB; + view all (2011) Genomic Risk Profiling of Ischemic Stroke: Results of an International Genome-Wide Association Meta-Analysis. PLOS ONE , 6 (9) , Article e23161. 10.1371/journal.pone.0023161. Green and gold open access
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Naj, AC; Beecham, GW; Gallins, PJ; Gilbert, JR; Rajbhandary, RA; Slifer, MA; ... Haines, JL; + view all (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics , 43 (5) 436 - 443. 10.1038/ng.801.

Naj, AC; Jun, G; Beecham, GW; Wang, LS; Vardarajan, BN; Buros, J; ... Schellenberg, GD; + view all (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. NAT GENET , 43 (5) 436 - +. 10.1038/ng.801.

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... Wellcome Trust Case-Control Consor,; + view all (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. 10.1016/S0140-6736(10)62345-8.

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. 10.1016/j.ymgme.2011.04.015.

Peuralinna, T; Tanskanen, M; Makela, M; Polvikoski, T; Paetau, A; Kalimo, H; ... Myllykangas, L; + view all (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. 10.3233/JAD-2011-102049.

Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; ... WTCCC2,; + view all (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLOS GENET , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Gold open access

Renton, AE; Majounie, E; Waite, A; Simon-Sanchez, J; Rollinson, S; Gibbs, JR; ... ITALSGEN Consortium,; + view all (2011) A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. NEURON , 72 (2) 257 - 268. 10.1016/j.neuron.2011.09.010.

Rohrer, JD; Lashley, T; Schott, JM; Warren, JE; Mead, S; Isaacs, AM; ... Warren, JD; + view all (2011) Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. BRAIN , 134 2565 - 2581. 10.1093/brain/awr198. Gold open access

Rollinson, S; Mead, S; Snowden, J; Richardson, A; Rohrer, J; Halliwell, N; ... Pickering-Brown, S; + view all (2011) Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. NEUROBIOL AGING , 32 (4) , Article 758.e1. 10.1016/j.neurobiolaging.2010.12.005.

Ross, OA; Soto-Ortolaza, AI; Verbeeck, C; Rich, SS; Singleton, A; Hardy, JA; ... SWISS Investigators,; + view all (2011) Results of NOTCH3 Sequencing in Siblings with Ischemic Stroke Study Probands. In: STROKE. (pp. E269 - E269). LIPPINCOTT WILLIAMS & WILKINS

Sailer, A; Scholz, SW; Gibbs, JR; Johnson, JO; Wood, NW; Hernandez, D; ... Houlden, H; + view all (2011) EXOME SEQUENCING AS A RAPID AND COST EFFICIENT DIAGNOSTIC METHOD IN NEUROGENETIC DISORDERS. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 552 - 552). WILEY-BLACKWELL

Sims, R; Dwyer, S; Harold, D; Gerrish, A; Hollingworth, P; Chapman, J; ... Williams, J; + view all (2011) No Evidence that Extended Tracts of Homozygosity are Associated with Alzheimer's Disease. AM J MED GENET B , 156B (7) 764 - 771. 10.1002/ajmg.b.31216.

Singleton, A; Hardy, J; (2011) A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. HUMAN MOLECULAR GENETICS , 20 R158 - R162. 10.1093/hmg/ddr358.

Spencer, CC; Strange, A; Band, G; Bellenguez, C; Freeman, C; McCarthy, MI; ... Bramon, E; + view all (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. 10.1093/hmg/ddq469.

Spencer, CCA; Plagnol, V; Strange, A; Gardner, M; Paisan-Ruiz, C; Band, G; ... Wellcome Trust Case Control Consor,; + view all (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. 10.1093/hmg/ddq469.

Trabzuni, D; Ryten, M; Walker, R; Smith, C; Imran, S; Ramasamy, A; ... Hardy, J; + view all (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. 10.1111/j.1471-4159.2011.07432.x.

2010

Aggarwal, A; Schneider, SA; Houlden, H; Silverdale, M; Paudel, R; Paisan-Ruiz, C; ... Bhatt, M; + view all (2010) Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms. MOVEMENT DISORD , 25 (10) 1424 - 1431. 10.1002/mds.23095.

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. 10.1038/nrg2793.

Corneveaux, JJ; Allen, AN; Pruzin, JJ; Chewning, K; Villa, SE; Meechoovet, HB; ... Hardy, J; + view all (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. 10.1093/hmg/ddq221.

Corneveaux, JJ; Myers, AJ; Allen, AN; Pruzin, JJ; Ramirez, M; Engel, A; ... Huentelman, MJ; + view all (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. 10.1093/hmg/ddq221.

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. ALZ DIS ASSOC DIS , 24 (4) 397 - 401. 10.1097/WAD.0b013e3181df20c7.

Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; ... Clarimon, J; + view all (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. 10.1016/j.neurobiolaging.2008.06.012.

Guerreiro, RJ; Beck, J; Gibbs, JR; Santana, I; Rossor, MN; Schott, JM; ... Hardy, J; + view all (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510. Green and gold open access
file

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. 10.1002/humu.21152.

Hampel, H; Frank, R; Broich, K; Teipel, SJ; Katz, RG; Hardy, J; ... Blennow, K; + view all (2010) Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. NAT REV DRUG DISCOV , 9 (7) 560 - 574. 10.1038/nrd3115.

Hardy, J; (2010) Genetic Analysis of Pathways to Parkinson Disease. NEURON , 68 (2) 201 - 206. 10.1016/j.neuron.2010.10.014. Gold open access

Hardy, J; (2010) Sample Tracking and Use in Published Genome-wide Association Studies. ARCH NEUROL-CHICAGO , 67 (10) 1267 - 1268.

Hardy, J; (2010) Genetics of tauopathies. In: EUROPEAN NEUROPSYCHOPHARMACOLOGY. (pp. S163 - S163). ELSEVIER SCIENCE BV

Hardy, J; (2010) The genetics of parkinsonisms. In: JOURNAL OF NEUROLOGY. (pp. S8 - S8). SPRINGER HEIDELBERG

Hardy, J; (2010) Neurological Diagnoses Identify Molecular Processes. ARCH NEUROL-CHICAGO , 67 (4) 400 - 401.

Hardy, J; (2010) Whole Genome Analysis of Neurodegenerative Disease. In: CELL TRANSPLANTATION. (pp. 342 - 342). COGNIZANT COMMUNICATION CORP

Hardy, J; Gwinn, K; (2010) Protected to Death. J ALZHEIMERS DIS , 20 (2) 409 - 413. 10.3233/JAD-2010-1416.

Hardy, J; Williams, J; (2010) Identification of Alzheimer Risk Factors Through Whole-Genome Analysis. ARCH NEUROL-CHICAGO , 67 (6) 663 - 664.

Houlden, H; Schneider, SA; Paudel, R; Melchers, A; Schwingenschuh, P; Edwards, M; ... Bhatia, KP; + view all (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. NEUROLOGY , 74 (10) 846 - 850.

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. 10.1056/NEJMc0910050.

Jones, L; Holmans, PA; Hamshere, ML; Harold, D; Moskvina, V; Ivanov, D; ... Williams, J; + view all (2010) Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease. PLOS ONE , 5 (11) , Article e13950. 10.1371/journal.pone.0013950. Green and gold open access
file

Kruer, MC; Paisan-Ruiz, C; Boddaert, N; Yoon, MY; Hama, H; Gregory, A; ... Hayflick, SJ; + view all (2010) Defective FA2H Leads to a Novel Form of Neurodegeneration with Brain Iron Accumulation (NBIA). ANN NEUROL , 68 (5) 611 - 618. 10.1002/ana.22122.

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. 10.1002/ajmg.b.30973.

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. 10.1002/ajmg.b.30973.

Matarin, M; Singleton, A; Hardy, J; Meschia, J; (2010) The genetics of ischaemic stroke. In: JOURNAL OF INTERNAL MEDICINE. (pp. 139 - 155). WILEY-BLACKWELL PUBLISHING, INC

Matsuki, T; Matthews, RT; Cooper, JA; van der Brug, MP; Cookson, MR; Hardy, JA; ... Howell, BW; + view all (2010) Reelin and Stk25 Have Opposing Roles in Neuronal Polarization and Dendritic Golgi Deployment. CELL , 143 (5) 826 - 836. 10.1016/j.cell.2010.10.029.

Momeni, P; DeTucci, K; Straub, RE; Weinberger, DR; Davies, P; Grafman, J; ... Huey, ED; + view all (2010) Progranulin (GRN) in two siblings of a Latino family and in other patients with Schizophrenia. NEUROCASE , 16 (3) 273 - 279. 10.1080/13554790903456209.

Momeni, P; Wickremaratchi, MM; Bell, J; Arnold, R; Beer, R; Hardy, J; ... Morris, HR; + view all (2010) Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia. CLIN NEUROL NEUROSUR , 112 (10) 917 - 920. 10.1016/j.clineuro.2010.07.015.

Paisan-Ruiz, C; Guevara, R; Federoff, M; Hanagasi, H; Sina, F; Elahi, E; ... Houlden, H; + view all (2010) Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations. MOVEMENT DISORD , 25 (12) 1791 - 1800. 10.1002/mds.23221.

Paisán-Ruiz, C; Guevara, R; Federoff, M; Hardy, J; Lees, AJ; Houlden, H; ... Brandner, S; + view all (2010) Early-onset L-dopa-responsive Parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and Spatacsin mutations. Movement Disorders , 25 (12) 1791 - 1800. 10.1002/mds.23221.

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) , Article e1001257. 10.1371/journal.pgen.1001257. Gold open access

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) 10.1371/journal.pgen.1001257. Gold open access

Sailer, A; Paisa-Puiz, C; Li, A; Paudel, R; Scholz, SW; Ahmed, Z; ... Houlden, H; + view all (2010) Genetic analysis of the MAPT locus in multiple system atrophy. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 598 - 598). WILEY-BLACKWELL

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. MOVEMENT DISORD , 25 (8) 979 - 984. 10.1002/mds.22947.

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. 10.1016/j.tins.2010.02.005.

Shatunov, A; Mok, K; Newhouse, S; Weale, ME; Smith, B; Vance, C; ... Al-Chalabi, A; + view all (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. 10.1016/S1474-4422(10)70197-6.

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. 10.1016/j.tig.2010.07.004.

Sofola, O; Kerr, F; Rogers, I; Killick, R; Augustin, H; Gandy, C; ... Partridge, L; + view all (2010) Inhibition of GSK-3 Ameliorates A beta Pathology in an Adult-Onset Drosophila Model of Alzheimer's Disease. PLOS Genetics , 6 (9) , Article e1001087. 10.1371/journal.pgen.1001087. Green and gold open access
file

Tucci, A; Nalls, MA; Houlden, H; Revesz, T; Singleton, AB; Wood, NW; ... Paisan-Ruiz, C; + view all (2010) Genetic variability at the PARK16 locus. EUR J HUM GENET , 18 (12) 1356 - 1359. 10.1038/ejhg.2010.125.

van de Leemput, J; Wavrant-De Vrieze, F; Rafferty, I; Bras, JM; Giunti, P; Fisher, EMC; ... Houlden, H; + view all (2010) Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series. MOVEMENT DISORD , 25 (6) 771 - 773. 10.1002/mds.22970.

Van Deerlin, VM; Sleiman, PMA; Martinez-Lage, M; Chen-Plotkin, A; Wang, LS; Graff-Radford, NR; ... Lee, VMY; + view all (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions. NAT GENET , 42 (3) 234 - U34. 10.1038/ng.536.

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.

Wain, LV; Shrine, NRG; Shaw, C; Powell, JF; Hardy, J; Shaw, P; ... Tobin, MD; + view all (2010) The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS). In: GENETIC EPIDEMIOLOGY. (pp. 929 - 930). WILEY-BLACKWELL

Wang, CL; Szpiech, ZA; Degnan, JH; Jakobsson, M; Pemberton, TJ; Hardy, JA; ... Rosenberg, NA; + view all (2010) Comparing Spatial Maps of Human Population-Genetic Variation Using Procrustes Analysis. STAT APPL GENET MOL , 9 (1) , Article 13. 10.2202/1544-6115.1493.

Wray, S; Hardy, J; (2010) All MAPT out?: Well-travelled pathways into neurodegeneration. Biochemist , 32 (2) 14 - 17.

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. 10.1586/ERM.10.48.

2009

Blom, ES; Giedraitis, V; Arepalli, S; Hamshere, ML; Adighibe, O; Goate, A; ... Glaser, A; + view all (2009) Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. BMC MEDICAL GENETICS , 10 , Article ARTN 122. 10.1186/1471-2350-10-122. Gold open access

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 DISORD , 24 (5) 662 - 666. 10.1002/mds.22365.

Chio, A; Schymick, JC; Restagno, G; Scholz, SW; Lombardo, F; Lai, SL; ... Traynor, BJ; + view all (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. HUM MOL GENET , 18 (8) 1524 - 1532. 10.1093/hmg/ddp059.

Clarimon, J; Djaldetti, R; Lleo, A; Guerreiro, RJ; Molinuevo, JL; Paisan-Ruiz, C; ... Hardy, J; + view all (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiology of Aging , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Clarimon, J; Djaldetti, R; Lleo, A; Guerreiro, RJ; Molinuevo, JL; Paisan-Ruiz, C; ... Hardy, J; + view all (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. NEUROBIOL AGING , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Dickson, DW; Braak, H; Duda, JE; Duyckaerts, C; Gasser, T; Halliday, GM; ... Litvan, I; + view all (2009) Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. LANCET NEUROL , 8 (12) 1150 - 1157.

Duncan, AJ; Bitner-Glindzicz, M; Meunier, B; Costello, H; Hargreaves, IP; Lopez, LC; ... Rahman, S; + view all (2009) A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease. AM J HUM GENET , 84 (5) 558 - 566. 10.1016/j.ajhg.2009.03.018. Gold open access

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.

Hardy, J; (2009) Genetic analysis of sporadic neurodegenerative disease. In: JOURNAL OF THE NEUROLOGICAL SCIENCES. (pp. S33 - S33). ELSEVIER SCIENCE BV

Hardy, J; (2009) GENETIC ANALYSIS OF NEURODEGENERATION. In: JOURNAL OF NEUROCHEMISTRY. (pp. 11 - 11). WILEY-BLACKWELL PUBLISHING, INC

Hardy, J; (2009) The amyloid hypothesis for Alzheimer's disease: a critical reappraisal. J NEUROCHEM , 110 (4) 1129 - 1134. 10.1111/j.1471-4159.2009.06181.x.

Hardy, J; (2009) Genetic dissection of neurodegenerative disease. In: JOURNAL OF NEUROCHEMISTRY. (pp. 1 - 1). WILEY-BLACKWELL PUBLISHING, INC

Hardy, J; Coleman, PD; (2009) Genetic Analysis Publications in Neurobiology of Aging. NEUROBIOLOGY OF AGING , 30 (4) 506 - 506. 10.1016/j.neurobiolaging.2009.01.003.

Hardy, J; Lewis, P; Revesz, T; Lees, A; Paisan-Ruiz, C; (2009) The genetics of Parkinson's syndromes: a critical review. CURR OPIN GENET DEV , 19 (3) 254 - 265. 10.1016/j.gde.2009.03.008.

Hardy, J; Singleton, A; (2009) CURRENT CONCEPTS Genomewide Association Studies and Human Disease. NEW ENGL J MED , 360 (17) 1759 - 1768. 10.1056/NEJMra0808700.

Hardy, J; Trabzuni, D; Ryten, M; (2009) Whole genome expression as a quantitative trait. BIOCHEM SOC T , 37 1276 - 1277. 10.1042/BST0371276.

Harold, D; Abraham, R; Hollingworth, P; Sims, R; Gerrish, A; Hamshere, ML; ... Williams, J; + view all (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics , 41 (10) 1088 -1093. 10.1038/ng.440.

Huang, L; Li, Y; Singleton, AB; Hardy, JA; Abecasis, G; Rosenberg, NA; Scheet, P; (2009) Genotype-Imputation Accuracy across Worldwide Human Populations. AM J HUM GENET , 84 (2) 235 - 250. 10.1016/j.ajhg.2009.01.013.

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. NEUROSCI LETT , 452 (2) 87 - 89. 10.1016/j.neulet.2009.01.029.

Kumaran, R; Vandrovcova, J; Luk, C; Sharma, S; Renton, A; Wood, NW; ... Bandopadhyay, R; + view all (2009) Differential DJ-1 gene expression in Parkinson's disease. NEUROBIOL DIS , 36 (2) 393 - 400. 10.1016/j.nbd.2009.08.011.

Lees, AJ; Hardy, J; Revesz, T; (2009) Parkinson's disease. LANCET , 373 (9680) 2055 - 2066.

Li, A; Paisan-Ruiz, C; Holton, JL; Schneider, S; Hardy, J; Kidd, D; ... Revesz, T; + view all (2009) A pathological genotype-phenotype study of four neuroaxonal dystrophy cases with PLA2G6 mutations. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 20 - 20). BLACKWELL PUBLISHING

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 , Article 304. 10.1038/msb.2009.53. Gold open access

Matarin, M; Brown, WM; Dena, H; Britton, A; De Vrieze, FW; Brott, TG; ... Meschia, JF; + view all (2009) Candidate Gene Polymorphisms for Ischemic Stroke. STROKE , 40 (11) 3436 - 3442. 10.1161/STROKEAHA.109.558015.

Momeni, P; Pittman, A; Lashley, T; Vandrovcova, J; Malzer, E; Luk, C; ... de Silva, R; + view all (2009) Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. NEUROBIOL AGING , 30 (3) 388 - 393. 10.1016/j.neurobiolaging.2007.07.013.

Nalls, MA; Guerreiro, RJ; Simon-Sanchez, J; Bras, JT; Traynor, BJ; Gibbs, JR; ... Singleton, AB; + view all (2009) Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. NEUROGENETICS , 10 (3) 183 - 190. 10.1007/s10048-009-0182-4.

Nalls, MA; Simon-Sanchez, J; Gibbs, JR; Paisan-Ruiz, C; Bras, JT; Tanaka, T; ... Singleton, AB; + view all (2009) Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genetics , 5 (3) e1000415 - ?. 10.1371/journal.pgen.1000415. Gold open access

Nalls, MA; Simon-Sanchez, J; Gibbs, JR; Paisan-Ruiz, C; Bras, JT; Tanaka, T; ... Singleton, AB; + view all (2009) Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics. PLOS GENET , 5 (3) , Article e1000415. 10.1371/journal.pgen.1000415. Gold open access

Neumann, J; Bras, J; Deas, E; O'Sullivan, SS; Parkkinen, L; Lachmann, RH; ... Wood, NW; + view all (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. BRAIN , 132 1783 - 1794. 10.1093/brain/awp044. Gold open access

Neumann, J; Parkkinen, L; Bras, J; O'sullivan, SS; Deas, E; Lachmann, H; ... Wood, NW; + view all (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 3 - 3). BLACKWELL PUBLISHING

Paisan-Ruiz, C; Bhatia, KP; Li, A; Hernandez, D; Davis, M; Wood, NW; ... Schneider, SA; + view all (2009) Characterization of PLA2G6 as a Locus for Dystonia-Parkinsonism. ANN NEUROL , 65 (1) 19 - 23. 10.1002/ana.21415.

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. In: JOURNAL OF NEURAL TRANSMISSION. (pp. 240 - 241). SPRINGER WIEN

Rohrer, JD; Guerreiro, R; Vandrovcova, J; Uphill, J; Reiman, D; Beck, J; ... Rossor, MN; + view all (2009) The heritability and genetics of frontotemporal lobar degeneration. NEUROLOGY , 73 (18) 1451 - 1456.

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. 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. 10.1093/bfgp/elp028.

Schneider, SA; Bhatia, KP; Hardy, J; (2009) Complicated Recessive Dystonia Parkinsonism Syndromes. MOVEMENT DISORD , 24 (4) 490 - 499. 10.1002/mds.22314.

Schneider, SA; Hardy, J; Bhatia, KP; (2009) Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential? J NEUROL NEUROSUR PS , 80 (6) 589 - 590. 10.1136/jnnp.2008.169953.

Schneider, SA; Paisan-Ruiz, C; Garcia-Gorostiaga, I; Quinn, NP; Weber, YG; Lerche, H; ... Bhatia, KP; + view all (2009) GLUT1 Gene Mutations Cause Sporadic Paroxysmal Exercise-Induced Dyskinesias. MOVEMENT DISORD , 24 (11) 1684 - 1688. 10.1002/mds.22507.

Scholz, SW; Houlden, H; Schulte, C; Sharma, M; Li, A; Berg, D; ... Gasser, T; + view all (2009) SNCA Variants Are Associated with Increased Risk for Multiple System Atrophy. ANN NEUROL , 65 (5) 610 - 614. 10.1002/ana.21685.

Segarane, B; Li, A; Paudel, R; Scholz, S; Neumann, J; Lees, A; ... Houlden, H; + view all (2009) GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY. NEUROLOGY , 72 (13) 1185 - 1186. 10.1212/01.wnl.0000345356.40399.eb. Gold open access

Simon-Sanchez, J; Schulte, C; Bras, JM; Sharma, M; Gibbs, JR; Berg, D; ... Gasser, T; + view all (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. NAT GENET , 41 (12) 1308 - U68. 10.1038/ng.487.

Webster, JA; Gibbs, JR; Clarke, J; Ray, M; Zhang, WX; Holmans, P; ... NACC-Neuropathol Grp,; + view all (2009) Genetic Control of Human Brain Transcript Expression in Alzheimer Disease. AM J HUM GENET , 84 (4) 445 - 458. 10.1016/j.ajhg.2009.03.011.

Wickremaratchi, MM; Majounie, E; Morris, HR; Williams, NM; Lewis, H; Gill, SS; ... Quinn, NP; + view all (2009) Parkin-related Disease Clinically Diagnosed as a Pallido-Pyramidal Syndrome. MOVEMENT DISORD , 24 (1) 138 - 140. 10.1002/mds.22181.

2008

Baum, AE; Akula, N; Cabanero, M; Cardona, I; Corona, W; Klemens, B; ... Bipolar, NIMHGI; + view all (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. 10.1038/sj.mp.4002012.

Blom, ES; Holmans, P; Arepalli, S; Adighibe, O; Hamshere, ML; Gatz, M; ... Glaser, A; + view all (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. 10.1002/ajmg.b.30681.

Bras, J; Guerreiro, R; Ribeiro, M; Morgadinho, A; Januario, C; Dias, M; ... Singleton, A; + view all (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology , 8 , Article 1. 10.1186/1471-2377-8-1. Green and gold open access
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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. FEBS J , 275 (23) 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.

Camargos, S; Scholz, S; Simón-Sánchez, J; Paisán-Ruiz, C; Lewis, P; Hernandez, D; ... Oliveira, CR; + view all (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet Neurology , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

Camargos, S; Scholz, S; Simon-Sanchez, J; Paisan-Ruiz, C; Lewis, P; Hernandez, D; ... Singleton, AB; + view all (2008) DYT16, a novel young-onset dystonia-parkinson ism disorder: identification of a segregating mutation in the stress-response protein PRKRA. LANCET NEUROL , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

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 DISORD , 23 (2) 299 - 302. 10.1002/mds.21842.

Cookson, MR; Hardy, J; Lewis, PA; (2008) Genetic Neuropathology of Parkinson's Disease. INT J CLIN EXP PATHO , 1 (3) 217 - 231. Gold open access

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. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 30 - 30). BLACKWELL PUBLISHING

Guerreiro, RJ; Santana, I; Bras, JM; Revesz, T; Rebelo, O; Ribeiro, MH; ... Hardy, J; + view all (2008) Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases. MOVEMENT DISORD , 23 (9) 1269 - 1273. 10.1002/mds.22078.

Hardy, J; (2008) Race, genetics, and medicine at a crossroads. LANCET S85 - S89.

Hardy, J; (2008) ALZHEIMER'S DISEASE: GENETICS TO PATHOGENESIS. In: Ragaini, R, (ed.) INTERNATIONAL SEMINAR ON NUCLEAR WAR AND PLANETARY EMERGENCIES - 38TH SESSION. (pp. 355 - 363). WORLD SCIENTIFIC PUBL CO PTE LTD

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. 10.1002/ajmg.b.30568.

Hardy, J; Singleton, A; (2008) The HapMap - Charting a course for genetic discovery in neurological diseases. ARCH NEUROL-CHICAGO , 65 (3) 319 - 321.

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. 10.1002/ajmg.b.30568.

Jakobsson, M; Scholz, SW; Scheet, P; Gibbs, JR; VanLiere, JM; Fung, HC; ... Singleton, AB; + view all