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John Hardy, PhD, Imperial College 1979 - Publications

Affiliations: 
University College London, London, United Kingdom 
Area:
http://www.researchprofiles.collexis.com/jad/expert.asp?u_id=13
Website:
http://www.ucl.ac.uk/rlweston-inst/people/john

346 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M, Alvarez I, Alvarez V, Andreassen O, Anfossi M, Bagnoli S, Benussi L, Bernardi L, Binetti G, Blackburn D, Boada M, ... ... Hardy J, et al. , AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts. Neurology. PMID 32943482 DOI: 10.1212/WNL.0000000000010914  0.52
2020 Jacobs BM, Belete D, Bestwick J, Blauwendraat C, Bandres-Ciga S, Heilbron K, Dobson R, Nalls MA, Singleton A, Hardy J, Giovannoni G, Lees AJ, Schrag AE, Noyce AJ. Parkinson's disease determinants, prediction and gene-environment interactions in the UK Biobank. Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1046-1054. PMID 32934108 DOI: 10.1136/jnnp-2020-323646  0.92
2020 Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, ... ... Hardy J, et al. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease. Neurobiology of Aging. PMID 32873436 DOI: 10.1016/j.neurobiolaging.2020.07.002  0.36
2020 Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, ... ... Hardy J, et al. Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology. PMID 32777174 DOI: 10.1002/acn3.51151  0.44
2020 Tomkins JE, Ferrari R, Vavouraki N, Hardy J, Lovering RC, Lewis PA, McGuffin LJ, Manzoni C. PINOT: an intuitive resource for integrating protein-protein interactions. Cell Communication and Signaling : Ccs. 18: 92. PMID 32527260 DOI: 10.1186/s12964-020-00554-5  0.48
2020 Bartolome F, Krzyzanowska A, de la Cueva M, Pascual C, Antequera D, Spuch C, Villarejo-Galende A, Rabano A, Fortea J, Alcolea D, Lleo A, Ferrer I, Hardy J, Abramov AY, Carro E. Annexin A5 prevents amyloid-β-induced toxicity in choroid plexus: implication for Alzheimer's disease. Scientific Reports. 10: 9391. PMID 32523019 DOI: 10.1038/s41598-020-66177-5  0.36
2020 Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA, Small KS, ... ... Hardy J, et al. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Nature Communications. 11: 1041. PMID 32098967 DOI: 10.1038/s41467-020-14483-x  0.36
2020 Reiman EM, Arboleda-Velasquez JF, Quiroz YT, Huentelman MJ, Beach TG, Caselli RJ, Chen Y, Su Y, Myers AJ, Hardy J, Paul Vonsattel J, Younkin SG, Bennett DA, De Jager PL, Larson EB, et al. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study. Nature Communications. 11: 667. PMID 32015339 DOI: 10.1038/s41467-019-14279-8  0.32
2020 Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, ... ... Hardy J, et al. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications. 8: 5. PMID 31996268 DOI: 10.1186/s40478-020-0879-z  0.92
2020 Ling H, Gelpi E, Davey K, Jaunmuktane Z, Mok KY, Jabbari E, Simone R, R'Bibo L, Brandner S, Ellis MJ, Attems J, Mann D, Halliday GM, Al-Sarraj S, Hedreen J, ... ... Hardy J, et al. Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates. Acta Neuropathologica. PMID 31950334 DOI: 10.1007/s00401-019-02119-4  0.56
2019 Piers TM, Cosker K, Mallach A, Johnson GT, Guerreiro R, Hardy J, Pocock JM. A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 31907987 DOI: 10.1096/fj.201902447R  0.52
2019 Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, ... ... Hardy J, et al. Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia. Brain : a Journal of Neurology. PMID 31755958 DOI: 10.1093/brain/awz350  0.8
2019 Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, ... ... Hardy JA, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet. Neurology. 18: 1091-1102. PMID 31701892 DOI: 10.1016/S1474-4422(19)30320-5  0.64
2019 Noyce AJ, Bandres-Ciga S, Kim J, Heilbron K, Kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs JR, Hinds DA, ... ... Hardy J, et al. The Parkinson's Disease Mendelian Randomization Research Portal. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31659794 DOI: 10.1002/mds.27873  0.4
2019 Singleton A, Hardy J. Progress in the Genetic Analysis of Parkinson's Disease. Human Molecular Genetics. PMID 31518392 DOI: 10.1093/hmg/ddz183  0.92
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Hardy J, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. PMID 31417202 DOI: 10.1038/s41588-019-0495-7  0.52
2019 Baker E, Sims R, Leonenko G, Frizzati A, Harwood JC, Grozeva D, Morgan K, Passmore P, Holmes C, Powell J, ... ... Hardy J, et al. Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease. Plos One. 14: e0218111. PMID 31283791 DOI: 10.1371/journal.pone.0218111  0.36
2019 Chaudhury S, Brookes KJ, Patel T, Fallows A, Guetta-Baranes T, Turton JC, Guerreiro R, Bras J, Hardy J, Francis PT, Croucher R, Holmes C, Morgan K. Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. Translational Psychiatry. 9: 167. PMID 31186402 DOI: 10.1038/s41398-019-0503-9  0.64
2019 Chaudhury S, Brookes KJ, Patel T, Fallows A, Guetta-Baranes T, Turton JC, Guerreiro R, Bras J, Hardy J, Francis PT, Croucher R, Holmes C, Morgan K. Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. Translational Psychiatry. 9: 154. PMID 31127079 DOI: 10.1038/s41398-019-0485-7  0.64
2019 Arber C, Toombs J, Lovejoy CC, Ryan NS, Paterson RW, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave A, Schott JM, Hardy J, Lashley T, Fox NC, Zetterberg H, et al. Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta. Molecular Psychiatry. PMID 30980041 DOI: 10.1038/s41380-019-0410-8  0.56
2019 Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrøm L, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, ... ... Hardy J, et al. Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 30957308 DOI: 10.1002/mds.27659  0.36
2019 Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, ... ... Hardy J, et al. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease. PMID 30953760 DOI: 10.1016/j.nbd.2019.04.004  0.92
2019 Guelfi S, Botia JA, Thom M, Ramasamy A, Perona M, Stanyer L, Martinian L, Trabzuni D, Smith C, Walker R, Ryten M, Reimers M, Weale ME, Hardy J, Matarin M. Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. Brain : a Journal of Neurology. PMID 30932156 DOI: 10.1093/brain/awz074  0.36
2019 Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, De Rijk P, Rees E, Kirov G, Hughes D, Fitzgerald T, Kristiansen M, Pearce K, Cerveira E, Zhu Q, ... ... Hardy J, et al. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes. European Journal of Human Genetics : Ejhg. PMID 30886340 DOI: 10.1038/s41431-019-0376-7  0.52
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Hardy J, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. 51: 414-430. PMID 30820047 DOI: 10.1038/s41588-019-0358-2  0.36
2019 Paonessa F, Evans LD, Solanki R, Larrieu D, Wray S, Hardy J, Jackson SP, Livesey FJ. Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia. Cell Reports. 26: 582-593.e5. PMID 30650353 DOI: 10.1016/j.celrep.2018.12.085  0.56
2018 Rohani M, Lang AE, Sina F, Elahi E, Fasano A, Hardy J, Bras J, Alavi A. Action Myoclonus and Seizure in Kufor-Rakeb Syndrome. Movement Disorders Clinical Practice. 5: 195-199. PMID 30868101 DOI: 10.1002/mdc3.12570  0.64
2018 Strydom A, Coppus A, Blesa R, Danek A, Fortea J, Hardy J, Levin J, Nuebling G, Rebillat AS, Ritchie C, van Duijn C, Zaman S, Zetterberg H. Alzheimer's disease in Down syndrome: An overlooked population for prevention trials. Alzheimer's & Dementia (New York, N. Y.). 4: 703-713. PMID 30581976 DOI: 10.1016/j.trci.2018.10.006  0.36
2018 Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, ... ... Hardy J, et al. Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. Frontiers in Cellular Neuroscience. 12: 429. PMID 30532692 DOI: 10.3389/fncel.2018.00429  0.44
2018 Guven G, Bilgic B, Tufekcioglu Z, Erginel Unaltuna N, Hanagasi H, Gurvit H, Singleton A, Hardy J, Emre M, Gulec C, Bras J, Guerreiro R, Lohmann E. Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 30475763 DOI: 10.3233/JAD-180599  0.92
2018 Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, ... ... Hardy J, et al. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging. PMID 30448004 DOI: 10.1016/j.neurobiolaging.2018.10.019  0.92
2018 Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, ... ... Hardy J, et al. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a Journal of Neurology. PMID 30252044 DOI: 10.1093/brain/awy238  0.92
2018 Fu H, Hardy J, Duff KE. Selective vulnerability in neurodegenerative diseases. Nature Neuroscience. PMID 30250262 DOI: 10.1038/s41593-018-0221-2  0.36
2018 Vlachakis D, Labrou NE, Iliopoulos C, Hardy J, Lewis PA, Rideout H, Trabzuni D. Insights into the Influence of Specific Splicing Events on the Structural Organization of . International Journal of Molecular Sciences. 19. PMID 30223621 DOI: 10.3390/ijms19092784  0.48
2018 Garcia-Reitboeck P, Phillips A, Piers TM, Villegas-Llerena C, Butler M, Mallach A, Rodrigues C, Arber CE, Heslegrave A, Zetterberg H, Neumann H, Neame S, Houlden H, Hardy J, Pocock JM. Human Induced Pluripotent Stem Cell-Derived Microglia-Like Cells Harboring TREM2 Missense Mutations Show Specific Deficits in Phagocytosis. Cell Reports. 24: 2300-2311. PMID 30157425 DOI: 10.1016/j.celrep.2018.07.094  0.44
2018 Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, ... Hardy J, et al. A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. Molecular Psychiatry. PMID 29988083 DOI: 10.1038/s41380-018-0091-8  0.64
2018 Brookes KJ, McConnell G, Williams K, Chaudhury S, Madhan G, Patel T, Turley C, Guetta-Baranes T, Bras J, Guerreiro R, Hardy J, Francis PT, Morgan K. Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort. Journal of Alzheimer's Disease : Jad. PMID 29914034 DOI: 10.3233/JAD-180191  0.64
2018 Ferrari R, Kia DA, Tomkins JE, Hardy J, Wood NW, Lovering RC, Lewis PA, Manzoni C. Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysis. Bmc Genomics. 19: 452. PMID 29898659 DOI: 10.1186/s12864-018-4804-9  0.48
2018 Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, ... ... Hardy J, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet. Neurology. PMID 29724592 DOI: 10.1016/S1474-4422(18)30126-1  0.52
2018 Brownjohn PW, Smith J, Solanki R, Lohmann E, Houlden H, Hardy J, Dietmann S, Livesey FJ. Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia. Stem Cell Reports. PMID 29606617 DOI: 10.1016/j.stemcr.2018.03.003  0.44
2018 Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Hardy J, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/j.neuron.2018.02.027  0.52
2018 Manzoni C, Mamais A, Dihanich S, Soutar MPM, Plun-Favreau H, Bandopadhyay R, Abeti R, Giunti P, Hardy J, Cookson M, Tooze SA, Lewis PA. mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Bioscience Reports. PMID 29563162 DOI: 10.1042/BSR20171669  0.48
2018 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J, Blumenau S, ... ... Hardy J, et al. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology of Aging. PMID 29544907 DOI: 10.1016/j.neurobiolaging.2018.01.015  0.64
2018 Bartolome F, Esteras N, Martin-Requero A, Boutoleau-Bretonniere C, Vercelletto M, Gabelle A, Ber IL, Honda T, Dinkova-Kostova AT, Hardy J, Carro E, Abramov AY. Author Correction: Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Scientific Reports. 8: 4064. PMID 29497142 DOI: 10.1038/s41598-018-22152-9  0.36
2018 Carmona S, Hardy J, Guerreiro R. The genetic landscape of Alzheimer disease. Handbook of Clinical Neurology. 148: 395-408. PMID 29478590 DOI: 10.1016/B978-0-444-64076-5.00026-0  0.52
2018 Pasanen P, Myllykangas L, Pöyhönen M, Kiviharju A, Siitonen M, Hardy J, Bras J, Paetau A, Tienari PJ, Guerreiro R, Verkkoniemi-Ahola A. Genetics of dementia in a Finnish cohort. European Journal of Human Genetics : Ejhg. PMID 29476165 DOI: 10.1038/s41431-018-0117-3  0.64
2018 Rusbridge C, Salguero FJ, David MA, Faller KME, Bras JT, Guerreiro RJ, Richard-Londt AC, Grainger D, Head E, Brandner SGP, Summers B, Hardy J, Tayebi M. An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers. Frontiers in Aging Neuroscience. 10: 7. PMID 29441010 DOI: 10.3389/fnagi.2018.00007  0.88
2018 Yaldizli Ö, Sethi V, Pardini M, Tur C, Mok KY, Muhlert N, Liu Z, Samson RS, Wheeler-Kingshott CAM, Yousry TA, Houlden H, Hardy J, Miller DH, Chard DT. Response to the commentary of Yates RL and DeLuca GC on the study: HLA-DRB1*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders. 19: 168-170. PMID 29409599 DOI: 10.1016/j.msard.2016.08.006  0.44
2018 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... Hardy J, et al. Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 10: 4. PMID 29329552 DOI: 10.1186/s13073-018-0516-7  0.92
2018 Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, ... ... Hardy J, et al. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. The Lancet. Neurology. 17: 64-74. PMID 29263008 DOI: 10.1016/S1474-4422(17)30400-3  0.92
2017 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... Hardy J, et al. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 9: 100. PMID 29183403 DOI: 10.1186/s13073-017-0486-1  0.92
2017 Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro R, Bras J, Hernandez D, Singleton A, Francis PT, Hardy J, Morgan K. Whole-exome sequencing of the BDR cohort: Evidence to support the role of the PILRA gene in Alzheimer's disease. Neuropathology and Applied Neurobiology. PMID 29181857 DOI: 10.1111/nan.12452  0.92
2017 Chaudhury S, Patel T, Barber IS, Guetta-Baranes T, Brookes KJ, Chappell S, Turton J, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann D, Morgan K. Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease. Neurobiology of Aging. PMID 29103623 DOI: 10.1016/j.neurobiolaging.2017.09.035  0.92
2017 Jansen IE, Gibbs JR, Nalls MA, Price TR, Lubbe S, van Rooij J, Uitterlinden AG, Kraaij R, Williams NM, Brice A, Hardy J, Wood NW, Morris HR, Gasser T, Singleton AB, et al. Establishing the role of rare coding variants in known Parkinson's disease risk loci. Neurobiology of Aging. PMID 28867149 DOI: 10.1016/j.neurobiolaging.2017.07.009  0.36
2017 Arber C, Angelova PR, Wiethoff S, Tsuchiya Y, Mazzacuva F, Preza E, Bhatia KP, Mills K, Gout I, Abramov AY, Hardy J, Duce JA, Houlden H, Wray S. iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. Plos One. 12: e0184104. PMID 28863176 DOI: 10.1371/journal.pone.0184104  0.56
2017 Darwent L, Carmona S, Lohmann E, Guven G, Kun-Rodrigues C, Bilgic B, Hanagasi H, Gurvit H, Erginel-Unaltuna N, Pak M, Hardy J, Singleton A, Brás J, Guerreiro R. Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiology of Aging. PMID 28716534 DOI: 10.1016/j.neurobiolaging.2017.06.019  0.92
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Hardy J, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/ng.3916  0.64
2017 Noyce AJ, Kia DA, Hemani G, Nicolas A, Price TR, De Pablo-Fernandez E, Haycock PC, Lewis PA, Foltynie T, Davey Smith G, Schrag A, Lees AJ, Hardy J, Singleton A, et al. Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. Plos Medicine. 14: e1002314. PMID 28609445 DOI: 10.1371/journal.pmed.1002314  0.92
2017 Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, ... ... Hardy JA, et al. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging. PMID 28602509 DOI: 10.1016/j.neurobiolaging.2017.05.009  0.64
2017 Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, ... ... Hardy J, et al. Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. Jama Neurology. PMID 28586827 DOI: 10.1001/jamaneurol.2017.0469  0.36
2017 Bartolome F, Esteras N, Martin-Requero A, Boutoleau-Bretonniere C, Vercelletto M, Gabelle A, Le Ber I, Honda T, Dinkova-Kostova AT, Hardy J, Carro E, Abramov AY. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Scientific Reports. 7: 1666. PMID 28490746 DOI: 10.1038/s41598-017-01678-4  0.36
2017 Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, et al. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain : a Journal of Neurology. PMID 28430856 DOI: 10.1093/brain/awx082  0.52
2017 Lane CA, Parker TD, Cash DM, Macpherson K, Donnachie E, Murray-Smith H, Barnes A, Barker S, Beasley DG, Bras J, Brown D, Burgos N, Byford M, Jorge Cardoso M, Carvalho A, ... ... Hardy J, et al. Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development. Bmc Neurology. 17: 75. PMID 28420323 DOI: 10.1186/s12883-017-0846-x  0.64
2017 Murthy MN, Blauwendraat C, Guelfi S, Hardy J, Lewis PA, Trabzuni D. Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3. Neurogenetics. PMID 28391543 DOI: 10.1007/s10048-017-0514-8  0.48
2017 Siitonen M, Börjesson-Hanson A, Pöyhönen M, Ora A, Pasanen P, Bras J, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria R, Kalimo H, Singleton A, ... Hardy J, et al. Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. Brain : a Journal of Neurology. PMID 28369186 DOI: 10.1093/brain/awx062  0.92
2017 Esteras N, Rohrer JD, Hardy J, Wray S, Abramov AY. Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration. Redox Biology. 12: 410-422. PMID 28319892 DOI: 10.1016/j.redox.2017.03.008  0.56
2017 Singleton AB, Hardy JA, Gasser T. The Birth of the Modern Era of Parkinson's Disease Genetics. Journal of Parkinson's Disease. 7: S89-S95. PMID 28282818 DOI: 10.3233/JPD-179009  0.36
2017 Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J, Momeni P, et al. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathologica. PMID 28271184 DOI: 10.1007/s00401-017-1693-y  0.52
2017 Espuny-Camacho I, Arranz AM, Fiers M, Snellinx A, Ando K, Munck S, Bonnefont J, Lambot L, Corthout N, Omodho L, Vanden Eynden E, Radaelli E, Tesseur I, Wray S, Ebneth A, ... Hardy J, et al. Hallmarks of Alzheimer's Disease in Stem-Cell-Derived Human Neurons Transplanted into Mouse Brain. Neuron. PMID 28238547 DOI: 10.1016/j.neuron.2017.02.001  0.56
2017 Ferrari R, Grassi M, Graziano F, Palluzzi F, Archetti S, Bonomi E, Bruni AC, Maletta RG, Bernardi L, Cupidi C, Colao R, Rainero I, Rubino E, Pinessi L, Galimberti D, ... ... Hardy J, et al. Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 28128768 DOI: 10.3233/JAD-160949  0.92
2017 Hibar DP, Adams HH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, ... ... Hardy J, et al. Novel genetic loci associated with hippocampal volume. Nature Communications. 8: 13624. PMID 28098162 DOI: 10.1038/ncomms13624  0.88
2017 Soreq L, Rose J, Soreq E, Hardy J, Trabzuni D, Cookson MR, Smith C, Ryten M, Patani R, Ule J. Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging. Cell Reports. 18: 557-570. PMID 28076797 DOI: 10.1016/j.celrep.2016.12.011  0.8
2016 Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, ... ... Hardy J, et al. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging. PMID 28017481 DOI: 10.1016/j.neurobiolaging.2016.11.010  0.52
2016 Ferrari R, Lovering RC, Hardy J, Lewis PA, Manzoni C. Weighted protein interaction network analysis of Frontotemporal Dementia. Journal of Proteome Research. PMID 28004582 DOI: 10.1021/acs.jproteome.6b00934  0.48
2016 Manzoni C, Kia DA, Vandrovcova J, Hardy J, Wood NW, Lewis PA, Ferrari R. Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. Briefings in Bioinformatics. PMID 27881428 DOI: 10.1093/bib/bbw114  0.48
2016 Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, ... ... Hardy J, et al. Additional Rare Variant Analysis in Parkinson's Disease Cases with and Without Known Pathogenic Mutations: Evidence for Oligogenic Inheritance. Human Molecular Genetics. PMID 27798102 DOI: 10.1093/hmg/ddw348  0.64
2016 Barber IS, Braae A, Clement N, Patel T, Guetta-Baranes T, Brookes K, Medway C, Chappell S, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann DM, et al. Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiology of Aging. PMID 27776828 DOI: 10.1016/j.neurobiolaging.2016.09.008  0.92
2016 Manzoni C, Mamais A, Roosen DA, Dihanich S, Soutar MP, Plun-Favreau H, Bandopadhyay R, Hardy J, Tooze SA, Cookson MR, Lewis PA. mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1. Scientific Reports. 6: 35106. PMID 27731364 DOI: 10.1038/srep35106  0.8
2016 Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, ... ... Hardy J, et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience. PMID 27694991 DOI: 10.1038/nn.4398  0.4
2016 Guven G, Lohmann E, Bras J, Gibbs JR, Gurvit H, Bilgic B, Hanagasi H, Rizzu P, Heutink P, Emre M, Erginel-Unaltuna N, Just W, Hardy J, Singleton A, Guerreiro R. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. Plos One. 11: e0162592. PMID 27632209 DOI: 10.1371/journal.pone.0162592  0.92
2016 Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, ... ... Hardy JA, et al. A genome-wide association study in multiple system atrophy. Neurology. PMID 27629089 DOI: 10.1212/WNL.0000000000003221  0.44
2016 Bras J, Djaldetti R, Alves AM, Mead S, Darwent L, Lleo A, Molinuevo JL, Blesa R, Singleton A, Hardy J, Clarimon J, Guerreiro R. Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiology of Aging. PMID 27524508 DOI: 10.1016/j.neurobiolaging.2016.06.018  0.92
2016 Kinghorn KJ, Castillo-Quan JI, Li L, Bhatia KP, Abramov AY, Hardy J, Partridge L. Reply: Glial mitochondropathy in infantile neuroaxonal dystrophy: pathophysiological and therapeutic implications. Brain : a Journal of Neurology. PMID 27497489 DOI: 10.1093/brain/aww185  0.36
2016 Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB, ... Hardy JA, et al. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiology of Disease. PMID 27312774 DOI: 10.1016/j.nbd.2016.06.004  0.88
2016 Singleton A, Hardy J. The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 90: 1154-63. PMID 27311081 DOI: 10.1016/j.neuron.2016.05.040  0.88
2016 Preza E, Hardy J, Warner T, Wray S. Induced pluripotent stem cell models of frontotemporal dementia. Neuropathology and Applied Neurobiology. PMID 27291591 DOI: 10.1111/nan.12334  0.56
2016 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, ... ... Hardy J, et al. ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiology of Aging. PMID 27289440 DOI: 10.1016/j.neurobiolaging.2016.04.004  0.88
2016 Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Morgan K, ... ... Hardy J, et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. Plos One. 11: e0150079. PMID 27249223 DOI: 10.1371/journal.pone.0150079  0.88
2016 Yaldizli Ö, Sethi V, Pardini M, Tur C, Mok KY, Muhlert N, Liu Z, Samson RS, Wheeler-Kingshott CA, Yousry TA, Houlden H, Hardy J, Miller DH, Chard DT. HLA-DRB*1501 associations with magnetic resonance imaging measures of grey matter pathology in multiple sclerosis. Multiple Sclerosis and Related Disorders. 7: 47-52. PMID 27237756 DOI: 10.1016/j.msard.2016.03.003  0.44
2016 Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, ... ... Hardy J, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain : a Journal of Neurology. PMID 27217339 DOI: 10.1093/brain/aww111  0.88
2016 Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, ... ... Hardy J, et al. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. American Journal of Human Genetics. 98: 763-71. PMID 27058447 DOI: 10.1016/j.ajhg.2016.02.015  0.88
2016 Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ, Williams-Gray CH, Barker RA, van Dijk KD, ... ... Hardy J, et al. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. The Lancet. Neurology. PMID 27017469 DOI: 10.1016/S1474-4422(16)00071-5  0.88
2016 Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Yong KX, Lehmann M, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Murray ME, Khan QU, Petersen RC, Dickson DW, ... ... Hardy J, et al. Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 26993346 DOI: 10.1016/j.jalz.2016.01.010  0.52
2016 Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, ... ... Hardy J, et al. Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. American Journal of Human Genetics. 98: 500-13. PMID 26942284 DOI: 10.1016/j.ajhg.2016.01.014  0.92
2016 Ferrari R, Forabosco P, Vandrovcova J, Botía JA, Guelfi S, Warren JD, Momeni P, Weale ME, Ryten M, Hardy J. Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis. Molecular Neurodegeneration. 11: 21. PMID 26912063 DOI: 10.1186/s13024-016-0085-4  0.88
2016 Heslegrave A, Heywood W, Paterson R, Magdalinou N, Svensson J, Johansson P, Öhrfelt A, Blennow K, Hardy J, Schott J, Mills K, Zetterberg H. Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease. Molecular Neurodegeneration. 11: 3. PMID 26754172 DOI: 10.1186/s13024-016-0071-x  0.88
2016 Mattsson N, Schott JM, Hardy J, Turner MR, Zetterberg H. Selective vulnerability in neurodegeneration: insights from clinical variants of Alzheimer's disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 26746185 DOI: 10.1136/jnnp-2015-311321  0.88
2015 Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J, Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12]. Neurobiology of Aging. 36: 3118. PMID 28764847 DOI: 10.1016/j.neurobiolaging.2015.10.005  0.36
2015 Lesage S, Bras J, Cormier-Dequaire F, Condroyer C, Nicolas A, Darwent L, Guerreiro R, Majounie E, Federoff M, Heutink P, Wood NW, Gasser T, Hardy J, Tison F, Singleton A, et al. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurology. Genetics. 1: e9. PMID 27066548 DOI: 10.1212/NXG.0000000000000009  0.92
2015 Bettencourt C, Forabosco P, Wiethoff S, Heidari M, Johnstone DM, Botía JA, Collingwood JF, Hardy J, Milward EA, Ryten M, Houlden H. Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiology of Disease. PMID 26707700 DOI: 10.1016/j.nbd.2015.12.004  0.32
2015 Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, ... ... Hardy J, et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging. PMID 26643944 DOI: 10.1016/j.neurobiolaging.2015.10.028  0.92
2015 Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bahtia K, et al. Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay. Molecular Neurodegeneration. 10: 64. PMID 26627638 DOI: 10.1186/s13024-015-0059-y  0.88
2015 Paudel R, Li A, Hardy J, Bhatia KP, Houlden H, Holton J. DYT6 Dystonia: A Neuropathological Study. Neuro-Degenerative Diseases. PMID 26610312 DOI: 10.1159/000440863  0.44
2015 Villegas-Llerena C, Phillips A, Reitboeck PG, Hardy J, Pocock JM. Microglial genes regulating neuroinflammation in the progression of Alzheimer's disease. Current Opinion in Neurobiology. 36: 74-81. PMID 26517285 DOI: 10.1016/j.conb.2015.10.004  0.64
2015 Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, Majounie E, Badarinarayan N, Morgan K, Passmore P, Holmes C, Powell J, Brayne C, Gill M, ... ... Hardy J, et al. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain : a Journal of Neurology. PMID 26490334 DOI: 10.1093/brain/awv268  0.52
2015 Huang Y, Skwarek-Maruszewska A, Horré K, Vandewyer E, Wolfs L, Snellinx A, Saito T, Radaelli E, Corthout N, Colombelli J, Lo AC, Van Aerschot L, Callaerts-Vegh Z, Trabzuni D, Bossers K, ... ... Hardy J, et al. Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse models. Science Translational Medicine. 7: 309ra164. PMID 26468326 DOI: 10.1126/scitranslmed.aab3492  0.88
2015 Peuralinna T, Myllykangas L, Oinas M, Nalls MA, Keage HA, Isoviita VM, Valori M, Polvikoski T, Paetau A, Sulkava R, Ince PG, Zaccai J, Brayne C, Traynor BJ, Hardy J, et al. Genome-wide association study of neocortical Lewy-related pathology. Annals of Clinical and Translational Neurology. 2: 920-31. PMID 26401513 DOI: 10.1002/acn3.231  0.4
2015 Lubbe SJ, Escott-Price V, Brice A, Gasser T, Hardy J, Heutink P, Sharma M, Wood NW, Nalls M, Singleton AB, Williams NM, Morris HR. Is the MC1R variant p.R160W associated with Parkinson's? Annals of Neurology. PMID 26389967 DOI: 10.1002/ana.24527  0.36
2015 Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, et al. Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation. Molecular Neurodegeneration. 10: 41. PMID 26306801 DOI: 10.1186/s13024-015-0038-3  0.48
2015 Nalls MA, McLean CY, Rick J, Eberly S, Hutten SJ, Gwinn K, Sutherland M, Martinez M, Heutink P, Williams NM, Hardy J, Gasser T, Brice A, Price TR, Nicolas A, et al. Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. The Lancet. Neurology. 14: 1002-9. PMID 26271532 DOI: 10.1016/S1474-4422(15)00178-7  0.4
2015 Wiseman FK, Al-Janabi T, Hardy J, Karmiloff-Smith A, Nizetic D, Tybulewicz VL, Fisher EM, Strydom A. A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome. Nature Reviews. Neuroscience. 16: 564-74. PMID 26243569 DOI: 10.1038/nrn3983  0.88
2015 Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, Gasser T, Lohmann E, et al. The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Human Molecular Genetics. PMID 26157024 DOI: 10.1093/hmg/ddv255  0.88
2015 Ferrari R, Grassi M, Salvi E, Borroni B, Palluzzi F, Pepe D, D'Avila F, Padovani A, Archetti S, Rainero I, Rubino E, Pinessi L, Benussi L, Binetti G, Ghidoni R, ... ... Hardy J, et al. A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Neurobiology of Aging. 36: 2904.e13-26. PMID 26154020 DOI: 10.1016/j.neurobiolaging.2015.06.005  0.92
2015 Sposito T, Preza E, Mahoney CJ, Setó-Salvia N, Ryan NS, Morris HR, Arber C, Devine MJ, Houlden H, Warner TT, Bushell TJ, Zagnoni M, Kunath T, Livesey FJ, Fox NC, ... ... Hardy J, et al. Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT. Human Molecular Genetics. PMID 26136155 DOI: 10.1093/hmg/ddv246  0.88
2015 Hohman TJ, Cooke-Bailey JN, Reitz C, Jun G, Naj A, Beecham GW, Liu Z, Carney RM, Vance JM, Cuccaro ML, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, ... ... Hardy J, et al. Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 26092349 DOI: 10.1016/j.jalz.2015.02.012  0.88
2015 Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M. CHCHD2 and Parkinson's disease. The Lancet. Neurology. 14: 678-9. PMID 26067110 DOI: 10.1016/S1474-4422(15)00094-0  0.88
2015 Kinghorn KJ, Castillo-Quan JI, Bartolome F, Angelova PR, Li L, Pope S, Cochemé HM, Khan S, Asghari S, Bhatia KP, Hardy J, Abramov AY, Partridge L. Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction. Brain : a Journal of Neurology. 138: 1801-16. PMID 26001724 DOI: 10.1093/brain/awv132  0.36
2015 Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, ... ... Hardy J, et al. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia. American Journal of Human Genetics. 96: 938-47. PMID 25983243 DOI: 10.1016/j.ajhg.2015.04.008  0.52
2015 Cummings DM, Liu W, Portelius E, Bayram S, Yasvoina M, Ho SH, Smits H, Ali SS, Steinberg R, Pegasiou CM, James OT, Matarin M, Richardson JC, Zetterberg H, Blennow K, ... Hardy JA, et al. First effects of rising amyloid-β in transgenic mouse brain: synaptic transmission and gene expression. Brain : a Journal of Neurology. 138: 1992-2004. PMID 25981962 DOI: 10.1093/brain/awv127  0.88
2015 Noyce AJ, Mencacci NE, Schrag A, Bestwick JP, Giovannoni G, Lees AJ, Hardy J. Web-based assessment of Parkinson's prodromal markers identifies GBA variants. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1002-3. PMID 25970725 DOI: 10.1002/mds.26249  0.88
2015 Sibley CR, Emmett W, Blazquez L, Faro A, Haberman N, Briese M, Trabzuni D, Ryten M, Weale ME, Hardy J, Modic M, Curk T, Wilson SW, Plagnol V, Ule J. Recursive splicing in long vertebrate genes. Nature. 521: 371-5. PMID 25970246 DOI: 10.1038/nature14466  0.88
2015 Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Jama Neurology. 72: 781-8. PMID 25961151 DOI: 10.1001/jamaneurol.2015.0582  0.88
2015 Moore S, Evans LD, Andersson T, Portelius E, Smith J, Dias TB, Saurat N, McGlade A, Kirwan P, Blennow K, Hardy J, Zetterberg H, Livesey FJ. APP metabolism regulates tau proteostasis in human cerebral cortex neurons. Cell Reports. 11: 689-96. PMID 25921538 DOI: 10.1016/j.celrep.2015.03.068  0.64
2015 Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, ... ... Hardy J, et al. Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease. Circulation. 131: 2061-9. PMID 25862742 DOI: 10.1161/CIRCULATIONAHA.115.015489  0.64
2015 Killick R, Hardy J, Simons JP. Reducing β-amyloid by inhibition of BACE1: how low should you go? Biological Psychiatry. 77: 683-4. PMID 25835287 DOI: 10.1016/j.biopsych.2015.03.001  0.88
2015 Weller RO, Hawkes CA, Carare RO, Hardy J. Does the difference between PART and Alzheimer's disease lie in the age-related changes in cerebral arteries that trigger the accumulation of Aβ and propagation of tau? Acta Neuropathologica. 129: 763-6. PMID 25814152 DOI: 10.1007/s00401-015-1416-1  0.88
2015 Escott-Price V, Nalls MA, Morris HR, Lubbe S, Brice A, Gasser T, Heutink P, Wood NW, Hardy J, Singleton AB, Williams NM. Polygenic risk of Parkinson disease is correlated with disease age at onset. Annals of Neurology. 77: 582-91. PMID 25773351 DOI: 10.1002/ana.24335  0.88
2015 Ling H, Hardy J, Zetterberg H. Neurological consequences of traumatic brain injuries in sports. Molecular and Cellular Neurosciences. 66: 114-122. PMID 25770439 DOI: 10.1016/j.mcn.2015.03.012  0.88
2015 Bras J, Alonso I, Barbot C, Costa MM, Darwent L, Orme T, Sequeiros J, Hardy J, Coutinho P, Guerreiro R. Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics. 96: 474-9. PMID 25728773 DOI: 10.1016/j.ajhg.2015.01.005  0.88
2015 Guerreiro R, Brás J, Hardy J. SnapShot: Genetics of ALS and FTD. Cell. 160: 798.e1. PMID 25679767 DOI: 10.1016/j.cell.2015.01.052  0.64
2015 Guerreiro R, Bras J, Toombs J, Heslegrave A, Hardy J, Zetterberg H. Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease. Current Genetic Medicine Reports. 3: 19-25. PMID 25664224 DOI: 10.1007/s40142-014-0062-6  0.64
2015 Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet. Neurology. 14: 291-301. PMID 25638642 DOI: 10.1016/S1474-4422(14)70233-9  0.88
2015 Brás J, Guerreiro R, Hardy J. SnapShot: Genetics of Parkinson's disease. Cell. 160: 570-570.e1. PMID 25635463 DOI: 10.1016/j.cell.2015.01.019  0.64
2015 Matarin M, Salih DA, Yasvoina M, Cummings DM, Guelfi S, Liu W, Nahaboo Solim MA, Moens TG, Paublete RM, Ali SS, Perona M, Desai R, Smith KJ, Latcham J, Fulleylove M, ... ... Hardy J, et al. A genome-wide gene-expression analysis and database in transgenic mice during development of amyloid or tau pathology. Cell Reports. 10: 633-44. PMID 25620700 DOI: 10.1016/j.celrep.2014.12.041  0.88
2015 Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A. Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiology of Aging. 36: 1600.e5-8. PMID 25588603 DOI: 10.1016/j.neurobiolaging.2014.12.017  0.88
2015 Brändl B, Schneider SA, Loring JF, Hardy J, Gribbon P, Müller FJ. Stem cell reprogramming: basic implications and future perspective for movement disorders. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 301-12. PMID 25546831 DOI: 10.1002/mds.26113  0.88
2015 Erro R, Hersheson J, Ganos C, Mencacci NE, Stamelou M, Batla A, Thust SC, Bras JM, Guerreiro RJ, Hardy J, Quinn NP, Houlden H, Bhatia KP. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Movement Disorders : Official Journal of the Movement Disorder Society. 30: 828-33. PMID 25545912 DOI: 10.1002/mds.26129  0.88
2015 Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, ... ... Hardy J, et al. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiology of Aging. 36: 1605.e7-12. PMID 25444595 DOI: 10.1016/j.neurobiolaging.2014.07.028  0.88
2015 Mencacci NE, Pittman AM, Isaias IU, Hardy J, Klebe S, Bhatia KP, Wood NW. Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a Journal of Neurology. 138: e352. PMID 25398234 DOI: 10.1093/brain/awu309  0.88
2015 Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, ... ... Hardy J, et al. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. The American Journal of Psychiatry. 172: 82-93. PMID 25158072 DOI: 10.1176/appi.ajp.2014.13101306  0.64
2015 Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. Journal of Alzheimer's Disease : Jad. 43: 625-30. PMID 25114083 DOI: 10.3233/JAD-141512  0.88
2014 Bras JM, Guerreiro RJ, Teo JTH, Darwent L, Vaughan J, Molloy S, Hardy J, Schneider SA. Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation. Movement Disorders Clinical Practice. 1: 45-49. PMID 30363821 DOI: 10.1002/mdc3.12008  0.88
2014 Ramasamy A, Trabzuni D, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S, Hardy J, Weale ME, Ryten M. Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders. 3: 211-219. PMID 25568836 DOI: 10.1016/j.msard.2013.08.009  0.36
2014 Paudel R, Kiely A, Li A, Lashley T, Bandopadhyay R, Hardy J, Jinnah HA, Bhatia K, Houlden H, Holton JL. Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathologica Communications. 2: 159. PMID 25403864 DOI: 10.1186/s40478-014-0159-x  0.44
2014 Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, ... ... Hardy J, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/jamaneurol.2014.1491  0.88
2014 Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ, Corneveaux JJ, Hardy J, Vonsattel JP, Younkin SG, Bennett DA, De Jager PL, Larson EB, Crane PK, Kamboh MI, et al. Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Plos Genetics. 10: e1004606. PMID 25188341 DOI: 10.1371/journal.pgen.1004606  0.88
2014 Ramasamy A, Trabzuni D, Guelfi S, Varghese V, Smith C, Walker R, De T, Coin L, de Silva R, Cookson MR, Singleton AB, Hardy J, Ryten M, et al. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nature Neuroscience. 17: 1418-28. PMID 25174004 DOI: 10.1038/nn.3801  0.88
2014 Guerreiro R, Hardy J. Genetics of Alzheimer's disease. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 11: 732-7. PMID 25113539 DOI: 10.1007/s13311-014-0295-9  0.88
2014 Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Al-Sarraj S, Niblock M, Gallo JM, Adnan J, Killick R, Brown KS, Medway C, Lord J, Turton J, ... ... Hardy J, et al. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of Aging. 35: 2881.e1-6. PMID 25104557 DOI: 10.1016/j.neurobiolaging.2014.06.002  0.8
2014 Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, ... ... Hardy JA, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics. 46: 989-93. PMID 25064009 DOI: 10.1038/ng.3043  0.64
2014 Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, ... ... Hardy J, et al. A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. Jama Neurology. 71: 1162-71. PMID 25003242 DOI: 10.1001/jamaneurol.2014.994  0.88
2014 Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, ... ... Hardy J, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a Journal of Neurology. 137: 2480-92. PMID 24993959 DOI: 10.1093/brain/awu179  0.88
2014 Kleinberger G, Yamanishi Y, Suárez-Calvet M, Czirr E, Lohmann E, Cuyvers E, Struyfs H, Pettkus N, Wenninger-Weinzierl A, Mazaheri F, Tahirovic S, Lleó A, Alcolea D, Fortea J, Willem M, ... ... Hardy J, et al. TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Science Translational Medicine. 6: 243ra86. PMID 24990881 DOI: 10.1126/scitranslmed.3009093  0.88
2014 Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, ... ... Hardy J, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics. 23: 6139-46. PMID 24973356 DOI: 10.1093/hmg/ddu334  0.8
2014 Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of Aging. 35: 2656.e13-6. PMID 24958194 DOI: 10.1016/j.neurobiolaging.2014.05.013  0.88
2014 Chang CW, Hsu WC, Pittman A, Wu YR, Hardy J, Fung HC. Structural study of the microtubule-associated protein tau locus of Alzheimer's disease in Taiwan. Biomedical Journal. 37: 127-32. PMID 24923570 DOI: 10.4103/2319-4170.117891  0.88
2014 Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Mann D, Snowden J, Neary D, ... ... Hardy J, et al. Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. Neurobiology of Aging. 35: 2422.e13-6. PMID 24880964 DOI: 10.1016/j.neurobiolaging.2014.04.026  0.88
2014 Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H. Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. Jama Neurology. 71: 831-9. PMID 24862029 DOI: 10.1001/jamaneurol.2014.756  0.44
2014 Karran E, Hardy J. A critique of the drug discovery and phase 3 clinical programs targeting the amyloid hypothesis for Alzheimer disease. Annals of Neurology. 76: 185-205. PMID 24853080 DOI: 10.1002/ana.24188  0.32
2014 Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, ... ... Hardy J, et al. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology. 82: 2072-6. PMID 24827497 DOI: 10.1212/WNL.0000000000000490  0.88
2014 Yu JT, Tan L, Hardy J. Apolipoprotein E in Alzheimer's disease: an update. Annual Review of Neuroscience. 37: 79-100. PMID 24821312 DOI: 10.1146/annurev-neuro-071013-014300  0.88
2014 Guerreiro R, Brás J, Hardy J, Singleton A. Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Human Molecular Genetics. 23: R47-53. PMID 24794858 DOI: 10.1093/hmg/ddu203  0.88
2014 Schlaudraff F, Gründemann J, Fauler M, Dragicevic E, Hardy J, Liss B. Orchestrated increase of dopamine and PARK mRNAs but not miR-133b in dopamine neurons in Parkinson's disease. Neurobiology of Aging. 35: 2302-15. PMID 24742361 DOI: 10.1016/j.neurobiolaging.2014.03.016  0.88
2014 Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience. 17: 664-6. PMID 24686783 DOI: 10.1038/nn.3688  0.8
2014 Berg D, Postuma RB, Bloem B, Chan P, Dubois B, Gasser T, Goetz CG, Halliday GM, Hardy J, Lang AE, Litvan I, Marek K, Obeso J, Oertel W, Olanow CW, et al. Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 454-62. PMID 24619848 DOI: 10.1002/mds.25844  0.88
2014 Ling H, Kara E, Revesz T, Lees AJ, Plant GT, Martino D, Houlden H, Hardy J, Holton JL. Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer. Acta Neuropathologica Communications. 2: 24. PMID 24559032 DOI: 10.1186/2051-5960-2-24  0.44
2014 Wiethoff S, Xiromerisiou G, Bettencourt C, Kioumi A, Tsiptsios I, Tychalas A, Evaggelia M, George K, Makris V, Hardy J, Houlden H. 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: 220-2. PMID 24529944 DOI: 10.1016/j.jns.2014.01.034  0.44
2014 Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J, Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging. 35: 1514.e1-12. PMID 24503276 DOI: 10.1016/j.neurobiolaging.2014.01.010  0.88
2014 Mok KY, Jones EL, Hanney M, Harold D, Sims R, Williams J, Ballard C, Hardy J. Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. Neurobiology of Aging. 35: 1513.e1-5. PMID 24462566 DOI: 10.1016/j.neurobiolaging.2013.12.022  0.8
2014 Karran E, Hardy J. Antiamyloid therapy for Alzheimer's disease--are we on the right road? The New England Journal of Medicine. 370: 377-8. PMID 24450897 DOI: 10.1056/NEJMe1313943  0.32
2014 Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, ... ... Hardy J, et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging. 35: 1510.e19-26. PMID 24439484 DOI: 10.1016/j.neurobiolaging.2013.12.010  0.8
2014 Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, ... ... Hardy J, ... ... Hardy J, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/nature12825  0.88
2014 Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 506-8. PMID 24309268 DOI: 10.1136/jnnp-2013-306761  0.64
2014 Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 245-51. PMID 24227479 DOI: 10.1002/mds.25732  0.88
2014 Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, et al. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 486-92. PMID 24198383 DOI: 10.1136/jnnp-2013-306387  0.88
2014 Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, ... ... Hardy J, et al. Assessment of Parkinson's disease risk loci in Greece. Neurobiology of Aging. 35: 442.e9-442.e16. PMID 24080174 DOI: 10.1016/j.neurobiolaging.2013.07.011  0.88
2014 Ferrari R, Kero M, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L. Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of Aging. 35: 444.e11-4. PMID 24080172 DOI: 10.1016/j.neurobiolaging.2013.08.021  0.88
2014 Nalls MA, Saad M, Noyce AJ, Keller MF, Schrag A, Bestwick JP, Traynor BJ, Gibbs JR, Hernandez DG, Cookson MR, Morris HR, Williams N, Gasser T, Heutink P, Wood N, ... Hardy J, et al. Genetic comorbidities in Parkinson's disease. Human Molecular Genetics. 23: 831-41. PMID 24057672 DOI: 10.1093/hmg/ddt465  0.88
2014 Beck J, Pittman A, Adamson G, Campbell T, Kenny J, Houlden H, Rohrer JD, de Silva R, Shoai M, Uphill J, Poulter M, Hardy J, Mummery CJ, Warren JD, Schott JM, et al. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of Aging. 35: 261-5. PMID 23998997 DOI: 10.1016/j.neurobiolaging.2013.07.017  0.88
2014 Noyce AJ, Bestwick JP, Silveira-Moriyama L, Hawkes CH, Knowles CH, Hardy J, Giovannoni G, Nageshwaran S, Osborne C, Lees AJ, Schrag A. PREDICT-PD: identifying risk of Parkinson's disease in the community: methods and baseline results. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 31-7. PMID 23828833 DOI: 10.1136/jnnp-2013-305420  0.88
2013 Udayar V, Buggia-Prévot V, Guerreiro RL, Siegel G, Rambabu N, Soohoo AL, Ponnusamy M, Siegenthaler B, Bali J, Simons M, Ries J, Puthenveedu MA, Hardy J, Thinakaran G, et al. A paired RNAi and RabGAP overexpression screen identifies Rab11 as a regulator of β-amyloid production. Cell Reports. 5: 1536-51. PMID 24373285 DOI: 10.1016/j.celrep.2013.12.005  0.64
2013 Trabzuni D, Ramasamy A, Imran S, Walker R, Smith C, Weale ME, Hardy J, Ryten M. Widespread sex differences in gene expression and splicing in the adult human brain. Nature Communications. 4: 2771. PMID 24264146 DOI: 10.1038/ncomms3771  0.36
2013 Manzoni C, Mamais A, Dihanich S, McGoldrick P, Devine MJ, Zerle J, Kara E, Taanman JW, Healy DG, Marti-Masso JF, Schapira AH, Plun-Favreau H, Tooze S, Hardy J, Bandopadhyay R, et al. Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochemical and Biophysical Research Communications. 441: 862-6. PMID 24211199 DOI: 10.1016/j.bbrc.2013.10.159  0.32
2013 Guerreiro R, Brás J, Hardy J. SnapShot: genetics of Alzheimer's disease. Cell. 155: 968-968.e1. PMID 24209629 DOI: 10.1016/j.cell.2013.10.037  0.64
2013 Guerreiro R, Hardy J. TREM2 and neurodegenerative disease. The New England Journal of Medicine. 369: 1569-70. PMID 24143816 DOI: 10.1056/NEJMc1306509  0.88
2013 Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, ... Hardy J, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. Jama Neurology. 70: 1403-10. PMID 24042580 DOI: 10.1001/jamaneurol.2013.3849  0.88
2013 Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, Hernandez D, Nalls MA, ... ... Hardy J, et al. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. Plos One. 8: e70724. PMID 23967090 DOI: 10.1371/journal.pone.0070724  0.64
2013 Jenner P, Morris HR, Robbins TW, Goedert M, Hardy J, Ben-Shlomo Y, Bolam P, Burn D, Hindle JV, Brooks D. Parkinson's disease--the debate on the clinical phenomenology, aetiology, pathology and pathogenesis. Journal of Parkinson's Disease. 3: 1-11. PMID 23938306 DOI: 10.3233/JPD-130175  0.88
2013 Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H, et al. The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience. 16: 1257-65. PMID 23933751 DOI: 10.1038/nn.3489  0.8
2013 Moskvina V, Harold D, Russo G, Vedernikov A, Sharma M, Saad M, Holmans P, Bras JM, Bettella F, Keller MF, Nicolaou N, Simón-Sánchez J, Gibbs JR, Schulte C, Durr A, ... ... Hardy J, et al. 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 Neurology. 70: 1268-76. PMID 23921447 DOI: 10.1001/jamaneurol.2013.448  0.8
2013 Mok K, Laaksovirta H, Tienari PJ, Peuralinna T, Myllykangas L, Chiò A, Traynor BJ, Nalls MA, Gurunlian N, Shatunov A, Restagno G, Mora G, Nigel Leigh P, Shaw CE, Morrison KE, ... ... Hardy J, et al. Homozygosity analysis in amyotrophic lateral sclerosis. European Journal of Human Genetics : Ejhg. 21: 1429-35. PMID 23612577 DOI: 10.1038/ejhg.2013.59  0.64
2013 Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, et al. Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron. 78: 57-64. PMID 23498975 DOI: 10.1016/j.neuron.2013.02.028  0.8
2013 Crehan H, Hardy J, Pocock J. Blockage of CR1 prevents activation of rodent microglia. Neurobiology of Disease. 54: 139-49. PMID 23454195 DOI: 10.1016/j.nbd.2013.02.003  0.88
2013 Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR, Hardy J, et al. Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research. 41: e88. PMID 23435227 DOI: 10.1093/nar/gkt069  0.88
2013 Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, ... ... Hardy J, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. American Journal of Human Genetics. 92: 345-53. PMID 23434116 DOI: 10.1016/j.ajhg.2013.01.011  0.88
2013 Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Ramirez-Restrepo M, ... ... Hardy J, et al. Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Annals of Human Genetics. 77: 85-105. PMID 23360175 DOI: 10.1111/ahg.12000  0.88
2013 Guerreiro RJ, Lohmann E, Brás JM, Gibbs JR, Rohrer JD, Gurunlian N, Dursun B, Bilgic B, Hanagasi H, Gurvit H, Emre M, Singleton A, Hardy J. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. Jama Neurology. 70: 78-84. PMID 23318515 DOI: 10.1001/jamaneurol.2013.579  0.8
2013 Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Sadd M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, ... ... Hardy J, et al. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics. 22: 1039-49. PMID 23223016 DOI: 10.1093/hmg/dds492  0.88
2013 Kumar A, Gibbs JR, Beilina A, Dillman A, Kumaran R, Trabzuni D, Ryten M, Walker R, Smith C, Traynor BJ, Hardy J, Singleton AB, Cookson MR. Age-associated changes in gene expression in human brain and isolated neurons. Neurobiology of Aging. 34: 1199-209. PMID 23177596 DOI: 10.1016/j.neurobiolaging.2012.10.021  0.8
2013 Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, ... ... Hardy J, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/NEJMoa1211851  0.88
2012 Friedland RP, Shah JJ, Farrer LA, Vardarajan B, Rebolledo-Mendez JD, Mok K, Hardy J. Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat. Frontiers in Neurology. 3: 136. PMID 23060854 DOI: 10.3389/fneur.2012.00136  0.88
2012 Wray S, Self M, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, ... ... Hardy J, et al. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. Plos One. 7: e43099. PMID 22952635 DOI: 10.1371/journal.pone.0043099  0.88
2012 Guerreiro RJ, Hardy J. TOMM40 association with Alzheimer disease: tales of APOE and linkage disequilibrium. Archives of Neurology. 69: 1243-4. PMID 22869030 DOI: 10.1001/archneurol.2012.1935  0.88
2012 Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, ... ... Hardy J, et al. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Human Molecular Genetics. 21: 4094-103. PMID 22723018 DOI: 10.1093/hmg/dds238  0.88
2012 Englund E, Gustafson L, Passant U, Majounie E, Renton AE, Traynor BJ, Rohrer JD, Mok K, Hardy J. Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiology of Aging. 33: 1850.e13-6. PMID 22483864 DOI: 10.1016/j.neurobiolaging.2012.02.019  0.88
2012 Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, ... ... Hardy JA, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. Plos Genetics. 8: e1002548. PMID 22438815 DOI: 10.1371/journal.pgen.1002548  0.4
2012 Hernandez DG, Nalls MA, Moore M, Chong S, Dillman A, Trabzuni D, Gibbs JR, Ryten M, Arepalli S, Weale ME, Zonderman AB, Troncoso J, O'Brien R, Walker R, Smith C, ... ... Hardy J, et al. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiology of Disease. 47: 20-8. PMID 22433082 DOI: 10.1016/j.nbd.2012.03.020  0.8
2012 Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, et al. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. Plos One. 7: e28787. PMID 22427796 DOI: 10.1371/journal.pone.0028787  0.8
2012 . The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet. 379: 1214-24. PMID 22421340 DOI: 10.1016/S0140-6736(12)60110-X  0.92
2012 Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, ... ... Hardy J, et al. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a Journal of Neurology. 135: 751-64. PMID 22366792 DOI: 10.1093/brain/awr365  0.88
2012 Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain : a Journal of Neurology. 135: 736-50. PMID 22366791 DOI: 10.1093/brain/awr361  0.8
2012 Matsuki T, Zaka M, Guerreiro R, van der Brug MP, Cooper JA, Cookson MR, Hardy JA, Howell BW. Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. Plos One. 7: e31152. PMID 22355340 DOI: 10.1371/journal.pone.0031152  0.88
2012 Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, ... ... Hardy J, et al. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 28: 377-87. PMID 22027014 DOI: 10.3233/JAD-2011-110824  0.88
2012 Crehan H, Holton P, Wray S, Pocock J, Guerreiro R, Hardy J. Complement receptor 1 (CR1) and Alzheimer's disease. Immunobiology. 217: 244-50. PMID 21840620 DOI: 10.1016/j.imbio.2011.07.017  0.88
2012 McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, Poulter M, Nicholl DJ, Hardy J, Revesz T, Lowe J, Rossor M, Collinge J, Mead S. 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. Neurobiology of Aging. 33: 426.e13-21. PMID 21193246 DOI: 10.1016/j.neurobiolaging.2010.10.010  0.8
2012 Guerreiro RJ, Gustafson DR, Hardy J. The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiology of Aging. 33: 437-56. PMID 20594621 DOI: 10.1016/j.neurobiolaging.2010.03.025  0.8
2011 Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, ... ... Hardy J, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 72: 257-68. PMID 21944779 DOI: 10.1016/j.neuron.2011.09.010  0.88
2011 Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, ... ... Hardy J, et al. No evidence that extended tracts of homozygosity are associated with Alzheimer's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 764-71. PMID 21812096 DOI: 10.1002/ajmg.b.31216  0.8
2011 Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman JW, Hardy J, Marti-Masso JF, Healy D, et al. Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue. Plos One. 6: e22489. PMID 21799870 DOI: 10.1371/journal.pone.0022489  0.8
2011 Guerreiro RJ, Hardy J. Alzheimer's disease genetics: lessons to improve disease modelling. Biochemical Society Transactions. 39: 910-6. PMID 21787322 DOI: 10.1042/BST0390910  0.88
2011 Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, ... ... Hardy J, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nature Genetics. 43: 699-705. PMID 21685912 DOI: 10.1038/ng.859  0.88
2011 Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, ... ... Hardy J, et al. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Archives of Neurology. 68: 637-43. PMID 21555639 DOI: 10.1001/archneurol.2011.81  0.88
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, ... ... Hardy J, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/ng.801  0.88
2011 Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, ... ... Hardy J, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics. 43: 429-35. PMID 21460840 DOI: 10.1038/ng.803  0.8
2011 Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 377: 641-9. PMID 21292315 DOI: 10.1016/S0140-6736(10)62345-8  0.88
2011 Spencer CC, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, Barker RA, Bellenguez C, Bhatia K, Blackburn H, Blackwell JM, Bramon E, Brown MA, ... ... Hardy J, et al. 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: 345-53. PMID 21044948 DOI: 10.1093/hmg/ddq469  0.88
2011 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Hardy J, et al. Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease Plos One. 6. DOI: 10.1371/annotation/a0bb886d-d345-4a20-a82e-adce9b047798  0.52
2010 Webster J, Reiman EM, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, ... ... Hardy J, et al. Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. International Journal of Molecular Epidemiology and Genetics. 1: 19-30. PMID 21537449  0.88
2010 Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW. Cancer and neurodegeneration: between the devil and the deep blue sea. Plos Genetics. 6: e1001257. PMID 21203498 DOI: 10.1371/journal.pgen.1001257  0.64
2010 Matsuki T, Matthews RT, Cooper JA, van der Brug MP, Cookson MR, Hardy JA, Olson EC, Howell BW. Reelin and stk25 have opposing roles in neuronal polarization and dendritic Golgi deployment. Cell. 143: 826-36. PMID 21111240 DOI: 10.1016/j.cell.2010.10.029  0.88
2010 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Hardy J, et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. Plos One. 5: e13950. PMID 21085570 DOI: 10.1371/journal.pone.0013950  0.88
2010 Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Annals of Neurology. 68: 611-8. PMID 20853438 DOI: 10.1002/ana.22122  0.88
2010 Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Genetic variability at the PARK16 locus. European Journal of Human Genetics : Ejhg. 18: 1356-9. PMID 20683486 DOI: 10.1038/ejhg.2010.125  0.8
2010 Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends in Neurosciences. 33: 211-9. PMID 20226542 DOI: 10.1016/j.tins.2010.02.005  0.92
2010 Guerreiro RJ, Beck J, Gibbs JR, Santana I, Rossor MN, Schott JM, Nalls MA, Ribeiro H, Santiago B, Fox NC, Oliveira C, Collinge J, Mead S, Singleton A, Hardy J. Genetic variability in CLU and its association with Alzheimer's disease. Plos One. 5: e9510. PMID 20209083 DOI: 10.1371/journal.pone.0009510  0.8
2010 Guerreiro RJ, Washecka N, Hardy J, Singleton A. A thorough assessment of benign genetic variability in GRN and MAPT. Human Mutation. 31: E1126-40. PMID 20020531 DOI: 10.1002/humu.21152  0.8
2010 Maloney B, Ge YW, Petersen RC, Hardy J, Rogers JT, Pérez-Tur J, Lahiri DK. Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 153: 185-201. PMID 19504470 DOI: 10.1002/ajmg.b.30973  0.8
2010 Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, ... ... Hardy J, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiology of Aging. 31: 725-31. PMID 18667258 DOI: 10.1016/j.neurobiolaging.2008.06.012  0.8
2009 Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff M, Klein C, Goate A, Perlmutter J, ... ... Hardy JA, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature Genetics. 41: 1308-12. PMID 19915575 DOI: 10.1038/ng.487  0.88
2009 Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, ... Hardy J, et al. The heritability and genetics of frontotemporal lobar degeneration. Neurology. 73: 1451-6. PMID 19884572 DOI: 10.1212/WNL.0b013e3181bf997a  0.88
2009 Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, ... ... Hardy J, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. 41: 1088-93. PMID 19734902 DOI: 10.1038/ng.440  0.8
2009 Guerreiro RJ, Vaskov T, Crews C, Singleton A, Hardy J. A case of dementia with PRNP D178Ncis-129M and no insomnia. Alzheimer Disease and Associated Disorders. 23: 415-7. PMID 19571725 DOI: 10.1097/WAD.0b013e3181ae3a76  0.8
2009 Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson's syndromes: a critical review. Current Opinion in Genetics & Development. 19: 254-65. PMID 19419854 DOI: 10.1016/j.gde.2009.03.008  0.72
2009 Kalinderi K, Bostantjopoulou S, Paisan-Ruiz C, Katsarou Z, Hardy J, Fidani L. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece. Neuroscience Letters. 452: 87-9. PMID 19383421 DOI: 10.1016/j.neulet.2009.01.029  0.8
2009 Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. American Journal of Human Genetics. 84: 558-66. PMID 19375058 DOI: 10.1016/j.ajhg.2009.03.018  0.92
2009 Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, McCorquodale DS, Cuello C, Leung D, Bryden L, Nath P, ... ... Hardy J, et al. Genetic control of human brain transcript expression in Alzheimer disease. American Journal of Human Genetics. 84: 445-58. PMID 19361613 DOI: 10.1016/j.ajhg.2009.03.011  0.8
2009 Nalls MA, Guerreiro RJ, Simon-Sanchez J, Bras JT, Traynor BJ, Gibbs JR, Launer L, Hardy J, Singleton AB. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics. 10: 183-90. PMID 19271249 DOI: 10.1007/s10048-009-0182-4  0.88
2009 Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, ... ... Hardy J, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 18: 1524-32. PMID 19193627 DOI: 10.1093/hmg/ddp059  0.8
2009 Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of Neurology. 65: 19-23. PMID 18570303 DOI: 10.1002/ana.21415  0.8
2009 Clarimón J, Djaldetti R, Lleó A, Guerreiro RJ, Molinuevo JL, Paisán-Ruiz C, Gómez-Isla T, Blesa R, Singleton A, Hardy J. Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiology of Aging. 30: 1986-91. PMID 18387709 DOI: 10.1016/j.neurobiolaging.2008.02.008  0.8
2008 Bras J, Singleton A, Cookson MR, Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. The Febs Journal. 275: 5767-73. PMID 19021754 DOI: 10.1111/j.1742-4658.2008.06709.x  0.64
2008 Cookson MR, Hardy J, Lewis PA. Genetic neuropathology of Parkinson's disease. International Journal of Clinical and Experimental Pathology. 1: 217-31. PMID 18784814  0.8
2008 Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. Plos One. 3: e2450. PMID 18545701 DOI: 10.1371/journal.pone.0002450  0.64
2008 Guerreiro RJ, Santana I, Bras JM, Revesz T, Rebelo O, Ribeiro MH, Santiago B, Oliveira CR, Singleton A, Hardy J. Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1269-73. PMID 18464284 DOI: 10.1002/mds.22078  0.88
2008 Rohrer JD, Warren JD, Omar R, Mead S, Beck J, Revesz T, Holton J, Stevens JM, Al-Sarraj S, Pickering-Brown SM, Hardy J, Fox NC, Collinge J, Warrington EK, Rossor MN. Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. Archives of Neurology. 65: 506-13. PMID 18413474 DOI: 10.1001/archneur.65.4.506  0.88
2008 Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet. Neurology. 7: 207-15. PMID 18243799 DOI: 10.1016/S1474-4422(08)70022-X  0.88
2008 Blom ES, Holmans P, Arepalli S, Adighibe O, Hamshere ML, Gatz M, Pedersen NL, Bergem AL, Owen MJ, Hollingworth P, Goate A, Williams J, Lannfelt L, Hardy J, Wavrant-De Vrièze F, et al. Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 778-83. PMID 18161859 DOI: 10.1002/ajmg.b.30681  0.8
2007 Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, Marlowe L, Kaleem M, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, ... ... Hardy J, et al. A survey of genetic human cortical gene expression. Nature Genetics. 39: 1494-9. PMID 17982457 DOI: 10.1038/ng.2007.16  0.88
2007 Hamshere ML, Holmans PA, Avramopoulos D, Bassett SS, Blacker D, Bertram L, Wiener H, Rochberg N, Tanzi RE, Myers A, Wavrant-De Vrièze F, Go R, Fallin D, Lovestone S, Hardy J, et al. Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. Human Molecular Genetics. 16: 2703-12. PMID 17725986 DOI: 10.1093/hmg/ddm224  0.88
2007 Shrimpton AE, Schelper RL, Linke RP, Hardy J, Crook R, Dickson DW, Ishizawa T, Davis RL. A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 27: 228-32. PMID 17645236 DOI: 10.1111/j.1440-1789.2007.00766.x  0.8
2007 van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, ... Hardy J, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. Plos Genetics. 3: e108. PMID 17590087 DOI: 10.1371/journal.pgen.0030108  0.32
2007 Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Liang WS, Herbert RH, Beach T, et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron. 54: 713-20. PMID 17553421 DOI: 10.1016/j.neuron.2007.05.022  0.8
2007 Brown AM, Gordon D, Lee H, Wavrant-De Vrièze F, Cellini E, Bagnoli S, Nacmias B, Sorbi S, Hardy J, Blass JP. Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations. Neurochemical Research. 32: 857-69. PMID 17342416 DOI: 10.1007/s11064-006-9235-3  0.8
2007 Wavrant-De Vrièze F, Compton D, Womick M, Arepalli S, Adighibe O, Li L, Pérez-Tur J, Hardy J. ABCA1 polymorphisms and Alzheimer's disease. Neuroscience Letters. 416: 180-3. PMID 17324514 DOI: 10.1016/j.neulet.2007.02.010  0.44
2006 Cookson MR, Hardy J. The persistence of memory. The New England Journal of Medicine. 355: 2697-8. PMID 17182998 DOI: 10.1056/NEJMcibr065999  0.8
2006 Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, ... ... Hardy J, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. Bmc Neurology. 6: 44. PMID 17166276 DOI: 10.1186/1471-2377-6-44  0.88
2006 Momeni P, Bell J, Duckworth J, Hutton M, Mann D, Brown SP, Hardy J. Sequence analysis of all identified open reading frames on the frontal temporal dementia haplotype on chromosome 3 fails to identify unique coding variants except in CHMP2B. Neuroscience Letters. 410: 77-9. PMID 17095158 DOI: 10.1016/j.neulet.2006.06.065  0.88
2006 Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Genetics of Parkinson's disease and parkinsonism. Annals of Neurology. 60: 389-98. PMID 17068789 DOI: 10.1002/ana.21022  0.88
2006 Huey ED, Grafman J, Wassermann EM, Pietrini P, Tierney MC, Ghetti B, Spina S, Baker M, Hutton M, Elder JW, Berger SL, Heflin KA, Hardy J, Momeni P. Characteristics of frontotemporal dementia patients with a Progranulin mutation. Annals of Neurology. 60: 374-80. PMID 16983677 DOI: 10.1002/ana.20969  0.8
2006 Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C. Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. Bmc Neurology. 6: 24. PMID 16824219 DOI: 10.1186/1471-2377-6-24  0.88
2006 Fidani L, Kalinderi K, Bostantjopoulou S, Clarimon J, Goulas A, Katsarou Z, Hardy J, Kotsis A. Association of the Tau haplotype with Parkinson's disease in the Greek population. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1036-9. PMID 16552760 DOI: 10.1002/mds.20864  0.8
2006 Smemo S, Nowotny P, Hinrichs AL, Kauwe JS, Cherny S, Erickson K, Myers AJ, Kaleem M, Marlowe L, Gibson AM, Hollingworth P, O'Donovan MC, Morris CM, Holmans P, Lovestone S, ... ... Hardy J, et al. Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease. Annals of Neurology. 59: 21-6. PMID 16278862 DOI: 10.1002/ana.20673  0.8
2005 McKeith IG, Dickson DW, Lowe J, Emre M, O'Brien JT, Feldman H, Cummings J, Duda JE, Lippa C, Perry EK, Aarsland D, Arai H, Ballard CG, Boeve B, Burn DJ, ... ... Hardy J, et al. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology. 65: 1863-72. PMID 16237129 DOI: 10.1212/01.wnl.0000187889.17253.b1  0.8
2005 Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1653-5. PMID 16149095 DOI: 10.1002/mds.20682  0.8
2005 Kumar-Singh S, Pirici D, McGowan E, Serneels S, Ceuterick C, Hardy J, Duff K, Dickson D, Van Broeckhoven C. Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls. The American Journal of Pathology. 167: 527-43. PMID 16049337 DOI: 10.1016/S0002-9440(10)62995-1  0.88
2005 McGowan E, Pickford F, Kim J, Onstead L, Eriksen J, Yu C, Skipper L, Murphy MP, Beard J, Das P, Jansen K, Delucia M, Lin WL, Dolios G, Wang R, ... ... Hardy J, et al. Abeta42 is essential for parenchymal and vascular amyloid deposition in mice. Neuron. 47: 191-9. PMID 16039562 DOI: 10.1016/j.neuron.2005.06.030  0.88
2005 Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Singleton A, Hardy J, De Michele G, Bonifati V, Oostra BA, Gasser T, et al. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 136: 72-4. PMID 15924299 DOI: 10.1002/ajmg.b.30196  0.88
2005 Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell T, Holmans P, Hamshere M, Turic D, Jehu L, Hollingworth P, Moore P, Bryden L, Myers A, Doil LM, Tacey KM, ... ... Hardy J, et al. Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 136: 62-8. PMID 15858813 DOI: 10.1002/ajmg.b.30186  0.8
2005 Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. Journal of Medical Genetics. 42: 837-46. PMID 15792962 DOI: 10.1136/jmg.2005.031377  0.8
2005 Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O. Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neuroscience Letters. 374: 189-91. PMID 15663960 DOI: 10.1016/j.neulet.2004.10.053  0.8
2004 Morris HR, Steele JC, Crook R, Wavrant-De Vrièze F, Onstead-Cardinale L, Gwinn-Hardy K, Wood NW, Farrer M, Lees AJ, McGeer PL, Siddique T, Hardy J, Perez-Tur J. Genome-wide analysis of the parkinsonism-dementia complex of Guam. Archives of Neurology. 61: 1889-97. PMID 15596609 DOI: 10.1001/archneur.61.12.1889  0.88
2004 Evidente VG, Esteban RP, Hernandez JL, Natividad FF, Advincula J, Gwinn-Hardy K, Hardy J, Singleton A, Singleton A. Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism & Related Disorders. 10: 407-10. PMID 15465396 DOI: 10.1016/j.parkreldis.2004.04.011  0.92
2004 Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, ... ... Hardy J, et al. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology. 63: 554-6. PMID 15304594 DOI: 10.1212/01.WNL.0000133401.09043.44  0.8
2004 Wiley J, Lynch T, Lincoln S, Skipper L, Hulihan M, Gosal D, Bisceglio G, Kachergus J, Hardy J, Farrer MJ. Parkinson's disease in Ireland: clinical presentation and genetic heterogeneity in patients with parkin mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 19: 677-81. PMID 15197707 DOI: 10.1002/mds.10703  0.88
2004 Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, et al. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Movement Disorders : Official Journal of the Movement Disorder Society. 19: 622-9. PMID 15197699 DOI: 10.1002/mds.20074  0.8
2004 Busby V, Goossens S, Nowotny P, Hamilton G, Smemo S, Harold D, Turic D, Jehu L, Myers A, Womick M, Woo D, Compton D, Doil LM, Tacey KM, Lau KF, ... ... Hardy J, et al. Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. Neuromolecular Medicine. 5: 133-46. PMID 15075440 DOI: 10.1385/NMM:5:2:133  0.8
2004 Fidani L, Goulas A, Crook R, Petersen RC, Tangalos E, Kotsis A, Hardy J. An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease. Neuroscience Letters. 357: 152-4. PMID 15036597 DOI: 10.1016/j.neulet.2003.11.071  0.8
2004 Petrucelli L, Dickson D, Kehoe K, Taylor J, Snyder H, Grover A, De Lucia M, McGowan E, Lewis J, Prihar G, Kim J, Dillmann WH, Browne SE, Hall A, Voellmy R, ... ... Hardy J, et al. CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation. Human Molecular Genetics. 13: 703-14. PMID 14962978 DOI: 10.1093/hmg/ddh083  0.8
2004 Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 125: 79-82. PMID 14755449 DOI: 10.1002/ajmg.b.20083  0.52
2004 Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS. Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain : a Journal of Neurology. 127: 768-72. PMID 14736756 DOI: 10.1093/brain/awh081  0.92
2004 Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, ... ... Hardy J, et al. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. American Journal of Human Genetics. 74: 11-9. PMID 14691730 DOI: 10.1086/380647  0.4
2004 Myers AJ, Marshall H, Holmans P, Compton D, Crook RJ, Mander AP, Nowotny P, Smemo S, Dunstan M, Jehu L, Wang JC, Hamshere M, Morris JC, Norton J, Chakraventy S, ... ... Hardy J, et al. Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 124: 29-37. PMID 14681909 DOI: 10.1002/ajmg.b.20036  0.88
2004 Bandopadhyay R, Kingsbury AE, Cookson MR, Reid AR, Evans IM, Hope AD, Pittman AM, Lashley T, Canet-Aviles R, Miller DW, McLendon C, Strand C, Leonard AJ, Abou-Sleiman PM, Healy DG, ... ... Hardy JA, et al. The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain : a Journal of Neurology. 127: 420-30. PMID 14662519 DOI: 10.1093/brain/awh054  0.88
2003 Lincoln SJ, Maraganore DM, Lesnick TG, Bounds R, de Andrade M, Bower JH, Hardy JA, Farrer MJ. Parkin variants in North American Parkinson's disease: cases and controls. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 1306-11. PMID 14639672 DOI: 10.1002/mds.10601  0.32
2003 Maraganore DM, Farrer MJ, Lesnick TG, de Andrade M, Bower JH, Hernandez D, Hardy JA, Rocca WA. Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 1233-9. PMID 14639662 DOI: 10.1002/mds.10547  0.32
2003 Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, ... ... Hardy J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science (New York, N.Y.). 302: 841. PMID 14593171 DOI: 10.1126/science.1090278  0.88
2003 El-Agnaf OM, Salem SA, Paleologou KE, Cooper LJ, Fullwood NJ, Gibson MJ, Curran MD, Court JA, Mann DM, Ikeda S, Cookson MR, Hardy J, Allsop D. Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 17: 1945-7. PMID 14519670 DOI: 10.1096/fj.03-0098fje  0.8
2003 Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, ... ... Hardy J, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Annals of Neurology. 54: 271-4. PMID 12891685 DOI: 10.1002/ana.10663  0.92
2003 Hardy J, Cookson MR, Singleton A. Genes and parkinsonism. The Lancet. Neurology. 2: 221-8. PMID 12849210 DOI: 10.1016/S1474-4422(03)00350-8  0.8
2003 Tan LC, Tanner CM, Chen R, Chan P, Farrer M, Hardy J, Langston JW. Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 758-63. PMID 12815654 DOI: 10.1002/mds.10432  0.88
2003 Rippon GA, Crook R, Baker M, Halvorsen E, Chin S, Hutton M, Houlden H, Hardy J, Lynch T. Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia. Archives of Neurology. 60: 884-8. PMID 12810495 DOI: 10.1001/archneur.60.6.884  0.8
2003 Maraganore DM, de Andrade M, Lesnick TG, Farrer MJ, Bower JH, Hardy JA, Rocca WA. Complex interactions in Parkinson's disease: a two-phased approach. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 631-6. PMID 12784265 DOI: 10.1002/mds.10431  0.88
2003 Harold D, Peirce T, Moskvina V, Myers A, Jones S, Hollingworth P, Moore P, Lovestone S, Powell J, Foy C, Archer N, Walter S, Edmonson A, McIlroy S, Craig D, ... ... Hardy J, et al. Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease. Human Genetics. 113: 258-67. PMID 12759818 DOI: 10.1007/s00439-003-0960-2  0.8
2003 Baptista MJ, O'Farrell C, Hardy J, Cookson MR. Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA. Neuroscience Letters. 343: 5-8. PMID 12749984 DOI: 10.1016/S0304-3940(03)00302-1  0.8
2003 Baptista MJ, O'Farrell C, Daya S, Ahmad R, Miller DW, Hardy J, Farrer MJ, Cookson MR. Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines. Journal of Neurochemistry. 85: 957-68. PMID 12716427 DOI: 10.1046/j.1471-4159.2003.01742.x  0.8
2003 Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M. SCA2 may present as levodopa-responsive parkinsonism. Movement Disorders : Official Journal of the Movement Disorder Society. 18: 425-9. PMID 12671950 DOI: 10.1002/mds.10375  0.64
2003 Pickford F, Onstead L, Camacho-Prihar C, Hardy J, McGowan E. Expression of mBRI2 in mice. Neuroscience Letters. 338: 95-8. PMID 12566161 DOI: 10.1016/S0304-3940(02)01356-3  0.88
2002 Petrucelli L, O'Farrell C, Lockhart PJ, Baptista M, Kehoe K, Vink L, Choi P, Wolozin B, Farrer M, Hardy J, Cookson MR. Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron. 36: 1007-19. PMID 12495618 DOI: 10.1016/S0896-6273(02)01125-X  0.88
2002 Walker RH, Friedman J, Wiener J, Hobler R, Gwinn-Hardy K, Adam A, DeWolfe J, Gibbs R, Baker M, Farrer M, Hutton M, Hardy J. A family with a tau P301L mutation presenting with parkinsonism. Parkinsonism & Related Disorders. 9: 121-3. PMID 12473404 DOI: 10.1016/S1353-8020(02)00003-2  0.32
2002 Goudreau JL, Maraganore DM, Farrer MJ, Lesnick TG, Singleton AB, Bower JH, Hardy JA, Rocca WA. Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1305-11. PMID 12465073 DOI: 10.1002/mds.10268  0.32
2002 West AB, Maraganore D, Crook J, Lesnick T, Lockhart PJ, Wilkes KM, Kapatos G, Hardy JA, Farrer MJ. Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Human Molecular Genetics. 11: 2787-92. PMID 12374768  0.32
2002 Hardy J, Gwinn-Hardy K, McGeer P, Morris H, Perez-Tur J, Steele J. Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000. Neurology. 59: 1121; author reply 1. PMID 12370488 DOI: 10.1212/wnl.59.7.1121  0.64
2002 Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A. Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 1068-71. PMID 12360561 DOI: 10.1002/mds.10241  0.92
2002 Goulas A, Fidani L, Kotsis A, Mirtsou V, Petersen RC, Tangalos E, Hardy J. An association study of a functional catalase gene polymorphism, -262C-->T, and patients with Alzheimer's disease. Neuroscience Letters. 330: 210-3. PMID 12231449 DOI: 10.1016/S0304-3940(02)00780-2  0.8
2002 Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, Lincoln S. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 670-5. PMID 12210855 DOI: 10.1002/mds.10184  0.64
2002 West A, Periquet M, Lincoln S, Lücking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Dürr A, Hardy J, et al. Complex relationship between Parkin mutations and Parkinson disease. American Journal of Medical Genetics. 114: 584-91. PMID 12116199 DOI: 10.1002/ajmg.10525  0.4
2002 Maraganore DM, Farrer MJ, McDonnell SK, Elbaz A, Schaid DJ, Hardy JA, Rocca WA. Case-control study of estrogen receptor gene polymorphisms in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 17: 509-12. PMID 12112198 DOI: 10.1002/mds.1253  0.88
2002 Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T, Wszolek ZK, Hardy J, Farrer MJ. The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. Gene. 285: 229-37. PMID 12039050 DOI: 10.1016/S0378-1119(02)00402-X  0.88
2002 Farrer M, Skipper L, Berg M, Bisceglio G, Hanson M, Hardy J, Adam A, Gwinn-Hardy K, Aasly J. The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. Neuroscience Letters. 322: 83-6. PMID 11958849  0.64
2002 Myllykangas L, Polvikoski T, Reunanen K, Wavrant-De Vrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ. ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain. American Journal of Medical Genetics. 114: 288-91. PMID 11920850 DOI: 10.1002/ajmg.10202  0.8
2002 Fidani L, Goulas A, Mirtsou V, Petersen RC, Tangalos E, Crook R, Hardy J. Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease. Neuroscience Letters. 323: 81-3. PMID 11911995  0.8
2002 Fidani L, Compton D, Hardy J, Petersen RC, Tangalos E, Mirtsou V, Goulas A, De Vrieze FW. No association between the lipoprotein lipase S447X polymorphism and Alzheimer's disease. Neuroscience Letters. 322: 192-4. PMID 11897170  0.8
2002 Amtul Z, Lewis PA, Piper S, Crook R, Baker M, Findlay K, Singleton A, Hogg M, Younkin L, Younkin SG, Hardy J, Hutton M, Boeve BF, Tang-Wai D, Golde TE. A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiology of Disease. 9: 269-73. PMID 11895378 DOI: 10.1006/nbdi.2001.0473  0.32
2002 Myers A, Wavrant De-Vrieze F, Holmans P, Hamshere M, Crook R, Compton D, Marshall H, Meyer D, Shears S, Booth J, Ramic D, Knowles H, Morris JC, Williams N, Norton N, ... ... Hardy J, et al. Full genome screen for Alzheimer disease: stage II analysis. American Journal of Medical Genetics. 114: 235-44. PMID 11857588 DOI: 10.1002/ajmg.10183  0.8
2002 Farrer M, Hardy J, Hutton M, Maraganore D, Tsuboi Y, Wszolek ZK. Identifying genetic factors in Parkinson disease. Jama. 287: 715-6. PMID 11851532  0.32
2001 Abraham R, Myers A, Wavrant-DeVrieze F, Hamshere ML, Thomas HV, Marshall H, Compton D, Spurlock G, Turic D, Hoogendoorn B, Kwon JM, Petersen RC, Tangalos E, Norton J, Morris JC, ... ... Hardy J, et al. Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Human Genetics. 109: 646-52. PMID 11810277 DOI: 10.1007/s00439-001-0614-1  0.8
2001 West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. European Journal of Human Genetics : Ejhg. 9: 659-66. PMID 11571553 DOI: 10.1038/sj.ejhg.5200698  0.92
2001 Lewis J, Dickson DW, Lin WL, Chisholm L, Corral A, Jones G, Yen SH, Sahara N, Skipper L, Yager D, Eckman C, Hardy J, Hutton M, McGowan E. Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science (New York, N.Y.). 293: 1487-91. PMID 11520987 DOI: 10.1126/science.1058189  0.8
2001 Steiner H, Revesz T, Neumann M, Romig H, Grim MG, Pesold B, Kretzschmar HA, Hardy J, Holton JL, Baumeister R, Houlden H, Haass C. A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques. The Journal of Biological Chemistry. 276: 7233-9. PMID 11084029 DOI: 10.1074/jbc.M007183200  0.44
2000 Morgan D, Diamond DM, Gottschall PE, Ugen KE, Dickey C, Hardy J, Duff K, Jantzen P, DiCarlo G, Wilcock D, Connor K, Hatcher J, Hope C, Gordon M, Arendash GW. A beta peptide vaccination prevents memory loss in an animal model of Alzheimer's disease. Nature. 408: 982-5. PMID 11140686 DOI: 10.1038/35050116  0.8
2000 Lambert JC, Goumidi L, Vrièze FW, Frigard B, Harris JM, Cummings A, Coates J, Pasquier F, Cottel D, Gaillac M, St Clair D, Mann DM, Hardy J, Lendon CL, Amouyel P, et al. The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease. Human Molecular Genetics. 9: 2275-80. PMID 11001930 DOI: 10.1093/OXFORDJOURNALS.HMG.A018918  0.52
2000 Lewis J, McGowan E, Rockwood J, Melrose H, Nacharaju P, Van Slegtenhorst M, Gwinn-Hardy K, Paul Murphy M, Baker M, Yu X, Duff K, Hardy J, Corral A, Lin WL, Yen SH, et al. Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. Nature Genetics. 25: 402-5. PMID 10932182 DOI: 10.1038/78078  0.8
1999 Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M. Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine. 5: 1090. PMID 10502791 DOI: 10.1038/13383  0.8
1999 Steiner H, Duff K, Capell A, Romig H, Grim MG, Lincoln S, Hardy J, Yu X, Picciano M, Fechteler K, Citron M, Kopan R, Pesold B, Keck S, Baader M, et al. A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling. The Journal of Biological Chemistry. 274: 28669-73. PMID 10497236 DOI: 10.1074/jbc.274.40.28669  0.4
1999 Pérez-Tur J, Buée L, Morris HR, Waring SC, Onstead L, Wavrant-De Vrièze F, Crook R, Buée-Scherrer V, Hof PR, Petersen RC, McGeer PL, Delacourte A, Hutton M, Siddique T, Ahlskog JE, ... Hardy J, et al. Neurodegenerative diseases of Guam: analysis of TAU. Neurology. 53: 411-3. PMID 10430438 DOI: 10.1212/WNL.53.2.411  0.8
1999 Wavrant-DeVrièze F, Lambert JC, Stas L, Crook R, Cottel D, Pasquier F, Frigard B, Lambrechts M, Thiry E, Amouyel P, Tur JP, Chartier-Harlin MC, Hardy J, Van Leuven F. Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease. Human Genetics. 104: 432-4. PMID 10394937 DOI: 10.1007/s004390050980  0.32
1999 Rudrasingham V, Wavrant-De Vrièze F, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Rice F, Pérez-Tur J, Frigard B, Morris JC, Carty S, Petersen R, Cottel D, ... ... Hardy J, et al. Alpha-2 macroglobulin gene and Alzheimer disease. Nature Genetics. 22: 17-9; author reply 2. PMID 10319854 DOI: 10.1038/8726  0.52
1999 Wavrant-DeVrièze F, Rudrasingham V, Lambert JC, Chakraverty S, Kehoe P, Crook R, Amouyel P, Wu W, Holmans P, Rice F, Pérez-Tur J, Frigard B, Morris JC, Carty S, Cottel D, ... ... Hardy J, et al. No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease. Neuroscience Letters. 262: 137-9. PMID 10203250 DOI: 10.1016/S0304-3940(99)00035-X  0.52
1998 Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, ... ... Hardy J, et al. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 393: 702-5. PMID 9641683 DOI: 10.1038/31508  0.8
1998 Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Medicine. 4: 452-5. PMID 9546792 DOI: 10.1038/nm0498-452  0.32
1998 Holcomb L, Gordon MN, McGowan E, Yu X, Benkovic S, Jantzen P, Wright K, Saad I, Mueller R, Morgan D, Sanders S, Zehr C, O'Campo K, Hardy J, Prada CM, et al. Accelerated Alzheimer-type phenotype in transgenic mice carrying both mutant amyloid precursor protein and presenilin 1 transgenes. Nature Medicine. 4: 97-100. PMID 9427614 DOI: 10.1038/nm0198-097  0.4
1996 Duff K, Eckman C, Zehr C, Yu X, Prada CM, Perez-tur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MN, Holcomb L, Refolo L, Zenk B, ... Hardy J, et al. Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1. Nature. 383: 710-3. PMID 8878479 DOI: 10.1038/383710a0  0.4
1993 Adroer R, Lopez-Acedo C, Oliva R, Hardy J, Fidani L. A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases. Neuroscience Letters. 150: 33-4. PMID 8469399 DOI: 10.1016/0304-3940(93)90101-P  0.8
1992 Crawford F, Chartier-Harlin MC, Mullan M, Hardy J, Delacourte A, Arnott G. Alzheimer's--a correction. Nature. 356: 390. PMID 1557118 DOI: 10.1038/356390b0  0.8
1991 Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin MC. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence. Neuroscience Letters. 133: 1-2. PMID 1791986 DOI: 10.1016/0304-3940(91)90042-R  0.8
1991 Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature. 349: 704-6. PMID 1671712 DOI: 10.1038/349704a0  0.32
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