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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

148 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
2021 García-Ruiz S, Gil-Martínez AL, Cisterna A, Jurado-Ruiz F, Reynolds RH, Cookson MR, Hardy J, Ryten M, Botía JA. CoExp: A Web Tool for the Exploitation of Co-expression Networks. Frontiers in Genetics. 12: 630187. PMID 33719340 DOI: 10.3389/fgene.2021.630187  0.8
2021 Arber C, Lovejoy C, Harris L, Willumsen N, Alatza A, Casey JM, Lines G, Kerins C, Mueller AK, Zetterberg H, Hardy J, Ryan NS, Fox NC, Lashley T, Wray S. Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis. Cell Reports. 34: 108615. PMID 33440141 DOI: 10.1016/j.celrep.2020.108615  0.56
2020 Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, ... ... Hardy JA, et al. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. PMID 33242422 DOI: 10.1016/j.neuron.2020.11.005  0.36
2020 Tan MMX, Lawton MA, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Pollard MI, Hubbard L, Malek N, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, ... ... Hardy J, et al. Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33111402 DOI: 10.1002/mds.28342  0.36
2020 Shadrin AA, Mucha S, Ellinghaus D, Makarious MB, Blauwendraat C, Sreelatha AAK, Heras-Garvin A, Ding J, Hammer M, Foubert-Samier A, Meissner WG, Rascol O, Pavy-Le Traon A, Frei O, O'Connell KS, ... ... Hardy J, et al. Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33107653 DOI: 10.1002/mds.28338  0.92
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 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 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
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 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 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 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 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 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
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 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 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 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 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
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 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 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 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 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
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 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 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 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 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 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 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
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 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 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 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 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 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 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
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 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 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
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 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 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 DOI: 10.1016/S0304-3940(02)00114-3  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 DOI: 10.1016/S0304-3940(02)00098-8  0.8
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
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
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 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
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 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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