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John G Hardy - Publications

Affiliations: 
University of Lancaster 
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Year Citation  Score
2023 Arber C, Casey JM, Crawford S, Rambarack N, Yaman U, Wiethoff S, Augustin E, Piers TM, Rostagno A, Ghiso J, Lewis PA, Revesz T, Hardy J, Pocock JM, Houlden H, et al. Microglia produce the amyloidogenic ABri peptide in familial British dementia. Biorxiv : the Preprint Server For Biology. PMID 37425748 DOI: 10.1101/2023.06.27.546552  0.304
2022 Wood JI, Wong E, Joghee R, Balbaa A, Vitanova KS, Stringer KM, Vanshoiack A, Phelan SJ, Launchbury F, Desai S, Tripathi T, Hanrieder J, Cummings DM, Hardy J, Edwards FA. Plaque contact and unimpaired Trem2 is required for the microglial response to amyloid pathology. Cell Reports. 41: 111686. PMID 36417868 DOI: 10.1016/j.celrep.2022.111686  0.68
2022 Stevenson-Hoare J, Heslegrave A, Leonenko G, Fathalla D, Bellou E, Luckcuck L, Marshall R, Sims R, Morgan BP, Hardy J, de Strooper B, Williams J, Zetterberg H, Escott-Price V. Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. Brain : a Journal of Neurology. PMID 35383826 DOI: 10.1093/brain/awac128  0.341
2022 Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, ... Hardy J, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics. PMID 35379992 DOI: 10.1038/s41588-022-01024-z  0.326
2022 Karlsson IK, Escott-Price V, Gatz M, Hardy J, Pedersen NL, Shoai M, Reynolds CA. Measuring heritable contributions to Alzheimer's disease: polygenic risk score analysis with twins. Brain Communications. 4: fcab308. PMID 35169705 DOI: 10.1093/braincomms/fcab308  0.316
2021 Magusali N, Graham AC, Piers TM, Panichnantakul P, Yaman U, Shoai M, Reynolds RH, Botia JA, Brookes KJ, Guetta-Baranes T, Bellou E, Bayram S, Sokolova D, Ryten M, Sala Frigerio C, ... Hardy J, et al. A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene. Brain : a Journal of Neurology. PMID 34619763 DOI: 10.1093/brain/awab337  0.337
2021 Xiromerisiou G, Bourinaris T, Houlden H, Lewis PA, Senkevich K, Hammer M, Federoff M, Khan A, Spanaki C, Hadjigeorgiou GM, Bonstanjopoulou S, Fidani L, Ermolaev A, Gan-Or Z, Singleton A, ... Hardy J, et al. SORL1 mutation in a Greek family with Parkinson's disease and dementia. Annals of Clinical and Translational Neurology. PMID 34506082 DOI: 10.1002/acn3.51433  0.377
2021 Benitez DP, Jiang S, Wood J, Wang R, Hall CM, Peerboom C, Wong N, Stringer KM, Vitanova KS, Smith VC, Joshi D, Saito T, Saido TC, Hardy J, Hanrieder J, et al. Knock-in models related to Alzheimer's disease: synaptic transmission, plaques and the role of microglia. Molecular Neurodegeneration. 16: 47. PMID 34266459 DOI: 10.1186/s13024-021-00457-0  0.661
2021 Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, ... Hardy J, et al. Spastic paraplegia preceding -related familial Alzheimer's disease. Alzheimer's & Dementia (Amsterdam, Netherlands). 13: e12186. PMID 33969176 DOI: 10.1002/dad2.12186  0.301
2020 Liu W, Taso O, Wang R, Bayram S, Graham AC, Garcia-Reitboeck P, Mallach A, Andrews WD, Piers TM, Botia JA, Pocock JM, Cummings DM, Hardy J, Edwards FA, Salih DA. Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions. Human Molecular Genetics. PMID 32959884 DOI: 10.1093/Hmg/Ddaa209  0.648
2020 Lauwers E, Lalli G, Brandner S, Collinge J, Compernolle V, Duyckaerts C, Edgren G, Haïk S, Hardy J, Helmy A, Ivinson AJ, Jaunmuktane Z, Jucker M, Knight R, Lemmens R, et al. Potential human transmission of amyloid β pathology: surveillance and risks. The Lancet. Neurology. 19: 872-878. PMID 32949547 DOI: 10.1016/S1474-4422(20)30238-6  0.358
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  0.362
2020 Zhang D, Guelfi S, Garcia-Ruiz S, Costa B, Reynolds RH, D'Sa K, Liu W, Courtin T, Peterson A, Jaffe AE, Hardy J, Botía JA, Collado-Torres L, Ryten M. Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. Science Advances. 6. PMID 32917675 DOI: 10.1126/Sciadv.Aay8299  0.331
2020 Khani M, Taheri H, Shamshiri H, Moazzeni H, Hardy J, Bras JT, InanlooRahatloo K, Alavi A, Nafissi S, Elahi E. Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation. Journal of Neurology. PMID 32897397 DOI: 10.1007/S00415-020-10171-4  0.407
2020 Mencacci NE, Reynolds R, Ruiz SG, Vandrovcova J, Forabosco P, Sánchez-Ferrer A, Volpato V, Weale ME, Bhatia KP, Webber C, Hardy J, Botía JA, Ryten M. Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. Brain : a Journal of Neurology. PMID 32889528 DOI: 10.1093/Brain/Awaa217  0.343
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  0.406
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  0.393
2020 Muldmaa M, Mencacci NE, Pittman A, Kadastik-Eerme L, Sikk K, Taba P, Hardy J, Kõks S. Community-based genetic study of Parkinson´s disease in Estonia. Acta Neurologica Scandinavica. PMID 32740907 DOI: 10.1111/Ane.13329  0.362
2020 Thomas MSC, Ojinaga Alfageme O, D'Souza H, Patkee PA, Rutherford MA, Mok KY, Hardy J, Karmiloff-Smith A. A multi-level developmental approach to exploring individual differences in Down syndrome: genes, brain, behaviour, and environment. Research in Developmental Disabilities. 104: 103638. PMID 32653761 DOI: 10.1016/J.Ridd.2020.103638  0.327
2020 Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D, Brunmeir R, Yeap YJ, O'Brien NL, Groet J, Shao X, Havlicek S, Dunn NR, ... ... Hardy J, et al. Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain. Molecular Psychiatry. PMID 32647257 DOI: 10.1038/S41380-020-0806-5  0.398
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  0.327
2020 Altmann A, Scelsi MA, Shoai M, de Silva E, Aksman LM, Cash DM, Hardy J, Schott JM. A comprehensive analysis of methods for assessing polygenic burden on Alzheimer's disease pathology and risk beyond . Brain Communications. 2: fcz047. PMID 32226939 DOI: 10.1093/braincomms/fcz047  0.318
2020 Hampel H, Vassar R, De Strooper B, Hardy J, Willem M, Singh N, Zhou J, Yan R, Vanmechelen E, De Vos A, Nisticò R, Corbo M, Imbimbo BP, Streffer J, Voytyuk I, et al. The β-Secretase BACE1 in Alzheimer's Disease. Biological Psychiatry. PMID 32223911 DOI: 10.1016/J.Biopsych.2020.02.001  0.365
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  0.378
2020 Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, ... ... Hardy J, et al. Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. Nature Genetics. PMID 32029921 DOI: 10.1038/S41588-019-0573-X  0.371
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  0.421
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  0.503
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  0.366
2019 Salih DA, Bayram S, Guelfi S, Reynolds RH, Shoai M, Ryten M, Brenton JW, Zhang D, Matarin M, Botia JA, Shah R, Brookes KJ, Guetta-Baranes T, Morgan K, Bellou E, ... Hardy J, et al. Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. Brain Communications. 1: fcz022. PMID 32274467 DOI: 10.1093/braincomms/fcz022  0.679
2019 Hardy J. Failures in Protein Clearance Partly Underlie Late Onset Neurodegenerative Diseases and Link Pathology to Genetic Risk. Frontiers in Neuroscience. 13: 1304. PMID 31866813 DOI: 10.3389/fnins.2019.01304  0.316
2019 Sundal C, Carmona S, Yhr M, Almström O, Ljungberg M, Hardy J, Hedberg-Oldfors C, Fred Å, Brás J, Oldfors A, Andersen O, Guerreiro R. An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. Acta Neuropathologica Communications. 7: 188. PMID 31775912 DOI: 10.1186/S40478-019-0843-Y  0.422
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  0.457
2019 Schneider SA, Tahirovic S, Hardy J, Strupp M, Bremova-Ertl T. Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature. Journal of Neurology. PMID 31701332 DOI: 10.1007/S00415-019-09621-5  0.458
2019 Reynolds RH, Hardy J, Ryten M, Gagliano Taliun SA. Informing disease modelling with brain-relevant functional genomic annotations. Brain : a Journal of Neurology. PMID 31603214 DOI: 10.1093/Brain/Awz295  0.403
2019 Sjödin S, Brinkmalm G, Öhrfelt A, Parnetti L, Paciotti S, Hansson O, Hardy J, Blennow K, Zetterberg H, Brinkmalm A. Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer's and Parkinson's disease. Alzheimer's Research & Therapy. 11: 82. PMID 31521194 DOI: 10.1186/S13195-019-0533-9  0.455
2019 Singleton A, Hardy J. Progress in the Genetic Analysis of Parkinson's Disease. Human Molecular Genetics. PMID 31518392 DOI: 10.1093/Hmg/Ddz183  0.43
2019 Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY, Hardy J, Strydom A. Reply to "Down Syndrome Cognitive Marker's Significance in Alzheimer's Disease and Dementia Management". Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 31451423 DOI: 10.1016/J.Jalz.2019.05.003  0.358
2019 Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, et al. Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific Reports. 9: 10854. PMID 31350420 DOI: 10.1038/S41598-019-46415-1  0.36
2019 Hardy J, Escott-Price V. Genes, pathways and risk prediction in Alzheimer's disease. Human Molecular Genetics. PMID 31332445 DOI: 10.1093/Hmg/Ddz163  0.459
2019 Tan MMX, Malek N, Lawton MA, Hubbard L, Pittman AM, Joseph T, Hehir J, Swallow DMA, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Bresner C, Foltynie T, Hardy J, et al. Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain : a Journal of Neurology. PMID 31324919 DOI: 10.1093/Brain/Awz191  0.431
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  0.45
2019 Huentelman M, De Both M, Jepsen W, Piras IS, Talboom JS, Willeman M, Reiman EM, Hardy J, Myers AJ. Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers. Scientific Reports. 9: 9640. PMID 31270419 DOI: 10.1038/S41598-019-45896-4  0.414
2019 Leonenko G, Shoai M, Bellou E, Sims R, Williams J, Hardy J, Escott-Price V. Genetic risk for Alzheimer's disease is distinct from genetic risk for amyloid deposition. Annals of Neurology. PMID 31199530 DOI: 10.1002/Ana.25530  0.401
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  0.344
2019 Malek N, Kanavou S, Lawton MA, Pitz V, Grosset KA, Bajaj N, Barker RA, Ben-Shlomo Y, Burn DJ, Foltynie T, Hardy J, Williams NM, Wood N, Morris HR, Grosset DG, et al. L-dopa responsiveness in early Parkinson's disease is associated with the rate of motor progression. Parkinsonism & Related Disorders. PMID 31105012 DOI: 10.1016/J.Parkreldis.2019.05.022  0.337
2019 Reynolds RH, Botía J, Nalls MA, Hardy J, Gagliano Taliun SA, Ryten M. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. Npj Parkinson's Disease. 5: 6. PMID 31016231 DOI: 10.1038/S41531-019-0076-6  0.33
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  0.397
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  0.38
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  0.43
2019 Leonenko G, Sims R, Shoai M, Frizzati A, Bossù P, Spalletta G, Fox NC, Williams J, Hardy J, Escott-Price V. Polygenic risk and hazard scores for Alzheimer's disease prediction. Annals of Clinical and Translational Neurology. 6: 456-465. PMID 30911569 DOI: 10.1002/Acn3.716  0.391
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  0.386
2019 Escott-Price V, Baker E, Shoai M, Leonenko G, Myers AJ, Huentelman M, Hardy J. Genetic analysis suggests high misassignment rates in clinical Alzheimer's cases and controls. Neurobiology of Aging. 77: 178-182. PMID 30851568 DOI: 10.1016/J.Neurobiolaging.2018.12.002  0.359
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  0.323
2019 Vadgama N, Lamont D, Hardy J, Nasir J, Lovering RC. Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke. Molecular and Cellular Biochemistry. PMID 30694515 DOI: 10.1007/S11010-019-03501-2  0.304
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  0.336
2019 Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, ... Hardy J, et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. Nature Genetics. PMID 30617256 DOI: 10.1038/S41588-018-0311-9  0.433
2019 Altmann A, Scelsi MA, Shoai M, Silva Ed, Cash DM, Hardy J, Schott JM, Adni. P4-490: Alzheimer'S Disease Polygenic Burden Beyond Apoe Acts Stronger On Tau Than On Amyloid Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.08.036  0.412
2019 Arber C, Toombs J, Lovejoy CE, Paterson RW, Ryan NS, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave AJ, Schott JM, Hardy J, Fox NC, Lashley T, Zetterberg H, et al. CORTICAL NEURONS AND CEREBRAL ORGANOIDS FROM APP AND PSEN1 MUTATION CARRIERS REVEAL MUTATION-SPECIFIC EFFECTS ON Aβ PRODUCTION Alzheimer's & Dementia. 15: P199. DOI: 10.1016/J.Jalz.2019.06.4532  0.318
2019 Daunt P, Banks K, Davidson G, Gibson A, Hill A, Oshota O, Bellou E, Escott-Price V, Leonenko G, Sims R, Williams J, Hardy J, Shoai M, Nagy Z, Pither R. P4-202: A Streamlined Integrated Process To Predict Genetic Risk Of Alzheimer'S Disease Alzheimers & Dementia. 15. DOI: 10.1016/J.Jalz.2019.06.3865  0.384
2019 Karlsson I, Escott-Price V, Gatz M, Hardy J, Pedersen NL, Shoai M, Reynolds CA. P4-085: MEASURING HERITABLE CONTRIBUTIONS TO AD: POLYGENIC RISK SCORE ANALYSIS IN BIOMETRIC, SNP-BASED AND AUC MODELS IN TWINS Alzheimer's & Dementia. 15: P1307-P1307. DOI: 10.1016/J.Jalz.2019.06.3745  0.302
2019 Ly H, Verma N, Lashley T, Hardy J, Despa F. P2-079: AMYLIN DYSHOMEOSTASIS DISRUPTS WHITE MATTER STRUCTURAL INTEGRITY AND MODULATES AMYLOID COMPOSITION AND PATHOLOGY DISTRIBUTION IN BRAINS OF PATIENTS WITH AD AND AD RATS Alzheimer's & Dementia. 15: P602-P602. DOI: 10.1016/J.Jalz.2019.06.2486  0.304
2019 Karlsson I, Reynolds CA, Escott-Price V, Hardy J, Gatz M, Pedersen NL. Sa37Heritability Of Alzheimer'S Disease – Comparison Of Twin And Polygenic Methods European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.259  0.391
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  0.395
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  0.421
2018 Piers TM, East E, Villegas-Llerena C, Sevastou IG, Matarin M, Hardy J, Pocock JM. Soluble Fibrinogen Triggers Non-cell Autonomous ER Stress-Mediated Microglial-Induced Neurotoxicity. Frontiers in Cellular Neuroscience. 12: 404. PMID 30524237 DOI: 10.3389/Fncel.2018.00404  0.343
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  0.347
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  0.411
2018 Bonham LW, Steele NZR, Karch CM, Manzoni C, Geier EG, Wen N, Ofori-Kuragu A, Momeni P, Hardy J, Miller ZA, Hess CP, Lewis P, Miller BL, Seeley WW, Baranzini SE, et al. Protein network analysis reveals selectively vulnerable regions and biological processes in FTD. Neurology. Genetics. 4: e266. PMID 30283816 DOI: 10.1212/Nxg.0000000000000266  0.367
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  0.36
2018 Fu H, Hardy J, Duff KE. Selective vulnerability in neurodegenerative diseases. Nature Neuroscience. PMID 30250262 DOI: 10.1038/S41593-018-0221-2  0.321
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  0.369
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  0.339
2018 Jabbari E, Woodside J, Tan M, Shoai M, Pittman A, Ferrari R, Mok KY, Zhang D, Reynolds RH, de Silva R, Grimm MJ, Respondek G, Müller U, Al-Sarraj S, Gentleman SM, ... ... Hardy J, et al. Variation at the TRIM11 locus modifies Progressive Supranuclear Palsy phenotype. Annals of Neurology. PMID 30066433 DOI: 10.1002/Ana.25308  0.355
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  0.333
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  0.373
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  0.442
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  0.32
2018 Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, et al. CXCR4 involvement in neurodegenerative diseases. Translational Psychiatry. 8: 73. PMID 29636460 DOI: 10.1038/S41398-017-0049-7  0.37
2018 Karch CM, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, Höglinger G, Müller U, Ferrari R, Hardy J, Schellenberg GD, Sleiman PM, Momeni P, Hess CP, Miller BL, et al. Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. Jama Neurology. PMID 29630712 DOI: 10.1001/Jamaneurol.2018.0372  0.346
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  0.349
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  0.349
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  0.473
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  0.334
2018 Zhou X, Chen Y, Mok KY, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu AKY, Guo Q, Ip NY. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis. Proceedings of the National Academy of Sciences of the United States of America. PMID 29432188 DOI: 10.1073/Pnas.1715554115  0.407
2018 Broce I, Karch CM, Wen N, Fan CC, Wang Y, Hong Tan C, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J, Momeni P, Hess CP, Dillon WP, et al. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. Plos Medicine. 15: e1002487. PMID 29315334 DOI: 10.1371/Journal.Pmed.1002487  0.352
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  0.399
2018 Khan RR, Altmann A, Napolioni V, Kim Y, Guerreiro R, Bras JT, Carmona S, Pereira M, Santana I, Hardy J, Mead S, Cruchaga C, Fernandez MV, Holstege H, Flier WMVd, et al. P4-240: Stop-Gain Variant In Microglia-Expressed Gene Gmip Is Associated With Early-Onset Alzheimer'S Disease Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.07.061  0.431
2018 Leonenko G, Frizzati A, Sims R, Shoai M, Hardy J, Williams J, Escott-Price V. P2-122: Comparing Results Of Polygenic Risk Score And Polygenic Hazard Score In Prediction Of Age Specific Risk For Developing Alzheimer'S Disease Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.808  0.33
2018 Patel T, Brookes KJ, Guetta-Baranes T, Chaudhury SR, Turton J, Hernandez D, Singleton A, Hardy J, Guerreiro R, Francis PT, Bras JT, Morgan K. P1-168: Linking Polygenic Risk Scores To Alzheimer'S Disease Genes Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.172  0.405
2018 Pither R, Shoai M, Escott-Price V, Laws SM, Hampel H, Oshoto O, Daunt P, Gibson A, Banks K, Nagy Z, Hardy J. P3-248: Stratification Of Individuals For Pet Amyloid Positivity And Alzheimer'S Disease Risk Using Polygenic Risk Score Analysis: New Opportunities For Clinical Trial Design Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.1607  0.343
2018 Zhou X, Chen Y, Mok KY, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu AKY, Guo Q, Ip NY, Initiative ADN. P3-104: Identification Of Genetic Risk Factors For Alzheimer'S Disease In The Chinese Population Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.1461  0.388
2018 Chaudhury SR, Patel T, Fallows A, Brookes KJ, Guetta-Baranes T, Turton J, Sussams R, Guerreiro R, Bras JT, Hardy J, Francis PT, Holmes C, Morgan K. P3-077: Alzheimer'S Disease (Ad) Polygenic Risk Score (Prs) As A Predictor Of Conversion From Mild Cognitive Impairment (Mci) Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.1433  0.361
2017 Malek N, Lawton MA, Grosset KA, Bajaj N, Barker RA, Burn DJ, Foltynie T, Hardy J, Morris HR, Williams NM, Ben-Shlomo Y, Wood NW, Grosset DG. Autonomic Dysfunction in Early Parkinson's Disease: Results from the United Kingdom Tracking Parkinson's Study. Movement Disorders Clinical Practice. 4: 509-516. PMID 30363477 DOI: 10.1002/Mdc3.12454  0.373
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  0.485
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  0.452
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  0.404
2017 Lythe V, Athauda D, Foley J, Mencacci NE, Jahanshahi M, Cipolotti L, Hyam J, Zrinzo L, Hariz M, Hardy J, Limousin P, Foltynie T. GBA-Associated Parkinson's Disease: Progression in a Deep Brain Stimulation Cohort. Journal of Parkinson's Disease. PMID 28777757 DOI: 10.3233/Jpd-171172  0.354
2017 Sasaguri H, Nilsson P, Hashimoto S, Nagata K, Saito T, De Strooper B, Hardy J, Vassar R, Winblad B, Saido TC. APP mouse models for Alzheimer's disease preclinical studies. The Embo Journal. PMID 28768718 DOI: 10.15252/Embj.201797397  0.394
2017 Escott-Price V, Myers AJ, Huentelman M, Hardy J. Polygenic Risk Score Analysis of Pathologically Confirmed Alzheimer's Disease. Annals of Neurology. PMID 28727176 DOI: 10.1002/Ana.24999  0.382
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  0.437
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  0.421
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  0.321
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  0.393
2017 Malek N, Lawton MA, Grosset KA, Bajaj N, Barker RA, Ben-Shlomo Y, Burn DJ, Foltynie T, Hardy J, Morris HR, Williams NM, Wood N, Grosset DG. Utility of the new Movement Disorder Society clinical diagnostic criteria for Parkinson's disease applied retrospectively in a large cohort study of recent onset cases. Parkinsonism & Related Disorders. PMID 28431829 DOI: 10.1016/J.Parkreldis.2017.04.006  0.348
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  0.417
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  0.372
2017 Hardy J. Membrane damage is at the core of Alzheimer's disease. The Lancet. Neurology. 16: 342. PMID 28414646 DOI: 10.1016/S1474-4422(17)30091-1  0.342
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  0.36
2017 Mishra A, Ferrari R, Heutink P, Hardy J, Pijnenburg Y, Posthuma D. Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia. Brain : a Journal of Neurology. PMID 28387812 DOI: 10.1093/Brain/Awx066  0.425
2017 Hardy J, De Strooper B. Alzheimer's disease: where next for anti-amyloid therapies? Brain : a Journal of Neurology. 140: 853-855. PMID 28375461 DOI: 10.1093/Brain/Awx059  0.373
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  0.317
2017 Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, Thompson WK, Besser L, Kukull WA, Holland D, Chen CH, Brewer JB, Karow DS, Kauppi K, Witoelar A, ... Hardy J, et al. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. Plos Medicine. 14: e1002258. PMID 28323831 DOI: 10.1371/Journal.Pmed.1002258  0.418
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  0.307
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  0.413
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  0.382
2017 Ling H, Morris HR, Neal JW, Lees AJ, Hardy J, Holton JL, Revesz T, Williams DD. Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired association football (soccer) players. Acta Neuropathologica. PMID 28205009 DOI: 10.1007/S00401-017-1680-3  0.373
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  0.366
2017 Noyce AJ, R'Bibo L, Peress L, Bestwick JP, Adams-Carr KL, Mencacci NE, Hawkes CH, Masters JM, Wood N, Hardy J, Giovannoni G, Lees AJ, Schrag A. PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28090684 DOI: 10.1002/Mds.26898  0.346
2017 Hardy J. The Discovery of Alzheimer causing Mutations in the APP Gene and the Formulation of the "Amyloid Cascade Hypothesis". The Febs Journal. PMID 28054745 DOI: 10.1111/Febs.14004  0.438
2017 Tan MM, Hong JS, Bras J, Lubbe SJ, Grosset DG, Wood NW, Schapira AH, Hardy J, Houlden H, Morris HR. PO187 Parkinson’s families project recruiting via the bnsu: baseline data Journal of Neurology, Neurosurgery, and Psychiatry. 88. DOI: 10.1136/Jnnp-2017-Abn.208  0.321
2017 Ling H, Morris H, Neal J, Lees A, Hardy J, Hotlon J, Revesz T, Williams D. 1115 Chronic traumatic encephalopathy in retired footballers with dementia Journal of Neurology, Neurosurgery, and Psychiatry. 88. DOI: 10.1136/Jnnp-2017-Abn.1  0.314
2017 Carmona S, Guven G, Lohmann E, Singleton A, Hardy J, Bras JT, Guerreiro R. Genetic Characterization Of A Turkish Dementia Cohort: Focus On Tyrobp Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.07.576  0.345
2017 Hardy J. Immune System Genetics In Alzheimer'S Disease Alzheimers & Dementia. 13: 1448. DOI: 10.1016/J.Jalz.2017.07.487  0.396
2017 Manzoni C, Ferrari R, Kia D, Lovering RC, Hardy J, Lewis PA. Protein Network Analysis To Prioritize Candidate Genes And Pathways For Sporadic Disease: A Comparison Between Frontotemporal Dementia And Parkinson’S Disease Alzheimers & Dementia. 13: 555. DOI: 10.1016/J.Jalz.2017.07.156  0.392
2017 Rollo JL, Crawford JW, Zhang X, Hardy J. Introducing A New Systems Pathology Paradigm Of Alzheimer'S Disease Alzheimers & Dementia. 13: 1281. DOI: 10.1016/J.Jalz.2017.06.1927  0.376
2017 Patel T, Brookes KJ, Guetta-Baranes T, Chappell S, Guerreiro R, Bras JT, Hardy J, Francis PT, Morgan K. Investigating Genetic Variation In Alzheimer’S Disease Using Whole-Exome Sequencing Alzheimers & Dementia. 13: 977. DOI: 10.1016/J.Jalz.2017.06.1323  0.353
2017 Siitonen M, Hanson AB, Pasanen P, Bras JT, Kern S, Kern J, Andersen O, Stanescu H, Kleta R, Baumann M, Kalaria RN, Kalimo H, Singleton A, Hardy J, Myllykangas L, et al. Multi-Infarct Dementia Of Swedish Type Is Caused By 3’Utr Col4A1 Mutation Alzheimers & Dementia. 13: 973. DOI: 10.1016/J.Jalz.2017.06.1312  0.317
2017 Ferrari R, Wang Y, Vandrovcova J, Dale AM, Andreassen O, Miller BL, Hardy J, Desikan RS. Alzheimer’S Disease, Parkinson’S Disease And Frontotemporal Dementia: Polygenicity And Pleiotropy Alzheimers & Dementia. 13: 972. DOI: 10.1016/J.Jalz.2017.06.1310  0.398
2017 James Lovejoy CE, Arber C, Willumsen N, Ryan NS, Lashley T, Fox NC, Hardy J, Wray S. [P1-220]: 3D CEREBRAL ORGANOIDS AS IN VITRO MODELS FOR ALZHEIMER's DISEASE Alzheimer's & Dementia. 13: P327-P327. DOI: 10.1016/J.Jalz.2017.06.040  0.353
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  0.3
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  0.371
2016 Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB, Momeni P, Schellenberg GS, Dillon WP, ... Hardy J, et al. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 27899424 DOI: 10.1136/Jnnp-2016-314411  0.457
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  0.398
2016 Ling H, Kovacs GG, Vonsattel JP, Davey K, Mok KY, Hardy J, Morris HR, Warner TT, Holton JL, Revesz T. Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology. Brain : a Journal of Neurology. PMID 27797812 DOI: 10.1093/Brain/Aww256  0.328
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  0.445
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  0.36
2016 Futerman AH, Hardy J. Perspective: Finding common ground. Nature. 537: S160-1. PMID 27652785 DOI: 10.1038/537S160A  0.349
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  0.4
2016 Escott-Price V, Shoai M, Pither R, Williams J, Hardy J. Polygenic score prediction captures nearly all common genetic risk for Alzheimer's disease. Neurobiology of Aging. PMID 27595457 DOI: 10.1016/J.Neurobiolaging.2016.07.018  0.395
2016 Schulz JB, Hausmann L, Hardy J. 199 years of Parkinson disease - what have we learned and what is the path to the future? Journal of Neurochemistry. PMID 27581372 DOI: 10.1111/Jnc.13733  0.382
2016 Klein AD, Ferreira NS, Ben-Dor S, Duan J, Hardy J, Cox TM, Merrill AH, Futerman AH. Identification of Modifier Genes in a Mouse Model of Gaucher Disease. Cell Reports. PMID 27568557 DOI: 10.1016/J.Celrep.2016.07.085  0.393
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  0.481
2016 van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, ... ... Hardy J, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 48: 1043-8. PMID 27455348 DOI: 10.1038/Ng.3622  0.33
2016 Malek N, Lawton MA, Swallow DM, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, Hardy J, Morris HR, Williams NM, Wood N, Ben-Shlomo Y, Grosset DG. Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27324570 DOI: 10.1002/Mds.26698  0.348
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  0.398
2016 Ballard C, Mobley W, Hardy J, Williams G, Corbett A. Dementia in Down's syndrome. The Lancet. Neurology. 15: 622-36. PMID 27302127 DOI: 10.1016/S1474-4422(16)00063-6  0.374
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  0.356
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  0.414
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  0.409
2016 Buss L, Fisher E, Hardy J, Nizetic D, Groet J, Pulford L, Strydom A. Intracerebral haemorrhage in Down syndrome: protected or predisposed? F1000research. 5. PMID 27239286 DOI: 10.12688/F1000Research.7819.1  0.392
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  0.439
2016 Hardy J. Catastrophic cliffs: a partial suggestion for selective vulnerability in neurodegenerative diseases. Biochemical Society Transactions. 44: 659-61. PMID 27068985 DOI: 10.1042/Bst20150287  0.35
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  0.304
2016 Selkoe DJ, Hardy J. The amyloid hypothesis of Alzheimer's disease at 25 years. Embo Molecular Medicine. PMID 27025652 DOI: 10.15252/Emmm.201606210  0.375
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  0.362
2016 Swallow DM, Lawton MA, Grosset KA, Malek N, Smith CR, Bajaj NP, Barker RA, Ben-Shlomo Y, Burn DJ, Foltynie T, Hardy J, Morris HR, Williams N, Wood NW, Grosset DG, et al. Variation in Recent Onset Parkinson's Disease: Implications for Prodromal Detection. Journal of Parkinson's Disease. PMID 27003780 DOI: 10.3233/Jpd-150741  0.377
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  0.435
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  0.388
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  0.41
2016 Foulger RE, Denny P, Hardy J, Martin MJ, Sawford T, Lovering RC. Using the Gene Ontology to Annotate Key Players in Parkinson's Disease. Neuroinformatics. PMID 26825309 DOI: 10.1007/S12021-015-9293-2  0.362
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  0.4
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  0.425
2016 Kinghorn K, Gronke S, Castillo-Quan JI, Li L, Woodling N, Sirka E, Gegg M, Hardy J, Partridge L. A NOVEL MODEL OF GBA1-ASSOCIATED PARKINSON'S DISEASE IMPLICATES AUTOPHAGY Journal of Neurology, Neurosurgery & Psychiatry. 87: e1.68-e1. DOI: 10.1136/Jnnp-2016-315106.16  0.389
2016 Hardy J. Pathways to Alzheimer's disease and other neurodegenerative diseases Neurobiology of Aging. 39. DOI: 10.1016/J.Neurobiolaging.2016.01.064  0.413
2016 Villegas-Llerena C, Matarin M, Hardy J, Pocock J. Genetic evidence for microglia-associated pathways as therapeutic targets for Alzheimer's disease Neurobiology of Aging. 39: S6. DOI: 10.1016/J.Neurobiolaging.2016.01.036  0.412
2016 Hampel H, Shoai M, Radhakrishnan L, Pither R, Scopes G, Potier M, Escott-Price V, Laws SM, Lista S, Nyasse F, Bakardjian H, Davis J, Bloor C, Dubois B, Hardy J. Alzheimer'S Disease Detection At The Preclinical Stage Using A Novel Snp Genotyping Array Alzheimers & Dementia. 12. DOI: 10.1016/J.Jalz.2016.06.2202  0.358
2016 Patel T, Clement NS, Barber I, Braae A, Brookes KJ, Guetta-Baranes T, Chappell S, Guerreiro R, Bras JT, Singleton A, Hardy J, Morgan K. Investigating Sarm1 Variants In Alzheimer’S Disease Cohorts Alzheimers & Dementia. 12: 855. DOI: 10.1016/J.Jalz.2016.06.1750  0.395
2016 Kauwe K, Arano I, Bras JT, Cannon-Albright L, Cruchaga C, Goate AM, Murcia JDG, Guerreiro R, Hardy J, Hsu S, Karch C, Munger RG, Norton MC, Ridge PG, Sassi C, et al. Linkage And Whole Genome Sequence Analysis Of Alzheimer'S Disease Resilience And Risk Alzheimers & Dementia. 12: 675. DOI: 10.1016/J.Jalz.2016.06.1325  0.377
2015 Hardy JG, Hernandez DS, Cummings DM, Edwards FA, Shear JB, Schmidt CE. Multiphoton microfabrication of conducting polymer-based biomaterials. Journal of Materials Chemistry. B. 3: 5001-5004. PMID 32262453 DOI: 10.1039/C5Tb00104H  0.595
2015 Hardy J. The mouse that trolled. Journal of Law and the Biosciences. 2: 722. PMID 27774222 DOI: 10.1093/Jlb/Lsv035  0.385
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  0.395
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  0.309
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  0.442
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  0.409
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  0.345
2015 Bandrés-Ciga S, Mencacci NE, Durán R, Barrero FJ, Escamilla-Sevilla F, Morgan S, Hehir J, Vives F, Hardy J, Pittman AM. Analysis of the genetic variability in Parkinson's disease from Southern Spain. Neurobiology of Aging. PMID 26518746 DOI: 10.1016/J.Neurobiolaging.2015.09.020  0.368
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  0.441
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  0.419
2015 Malek N, Swallow DM, Grosset KA, Lawton MA, Marrinan SL, Lehn AC, Bresner C, Bajaj N, Barker RA, Ben-Shlomo Y, Burn DJ, Foltynie T, Hardy J, Morris HR, Williams NM, et al. Tracking Parkinson's: Study Design and Baseline Patient Data. Journal of Parkinson's Disease. PMID 26485428 DOI: 10.3233/Jpd-150662  0.366
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  0.384
2015 Raskin J, Cummings J, Hardy J, Schuh K, Dean RA. Neurobiology of Alzheimer's Disease: Integrated Molecular, Physiological, Anatomical, Biomarker, and Cognitive Dimensions. Current Alzheimer Research. 12: 712-22. PMID 26412218 DOI: 10.2174/1567205012666150701103107  0.384
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  0.33
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  0.332
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  0.388
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  0.389
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  0.447
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  0.303
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  0.415
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  0.377
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  0.353
2015 Pickering-Brown S, Hardy J. Is SIGMAR1 a confirmed FTD/MND gene? Brain : a Journal of Neurology. 138: e393. PMID 26088964 DOI: 10.1093/Brain/Awv173  0.407
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  0.306
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  0.347
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  0.329
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  0.402
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  0.42
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  0.363
2015 Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, ... ... Hardy J, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry. PMID 25778476 DOI: 10.1038/Mp.2015.23  0.37
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  0.385
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  0.377
2015 Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, ... ... Hardy J, et al. Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Molecular Psychiatry. PMID 25687773 DOI: 10.1038/Mp.2015.6  0.44
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  0.344
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  0.441
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  0.346
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  0.407
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  0.668
2015 Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, ... ... Hardy J, et al. Common genetic variants influence human subcortical brain structures. Nature. 520: 224-9. PMID 25607358 DOI: 10.1038/Nature14101  0.331
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  0.304
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  0.342
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  0.403
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  0.396
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  0.307
2015 Hardy JG, Hernandez DS, Cummings DM, Edwards FA, Shear JB, Schmidt CE. Multiphoton microfabrication of conducting polymer-based biomaterials Journal of Materials Chemistry B. 3: 5001-5004. DOI: 10.1039/c5tb00104h  0.584
2015 Pike I, Russell C, Heslegrave AJ, Mitra V, Pocock J, Zetterberg H, Hardy J, Ward M. Microglial-derived proteins in CSF are candidate biomarkers for early diagnosis of Alzheimer’s disease Alzheimers & Dementia. 11: 126. DOI: 10.1016/J.Jalz.2015.07.033  0.323
2015 Heslegrave AJ, Heywood W, Paterson RW, Hardy J, Blennow K, Schott JM, Mills K, Zetterberg H, Johansson P, Svensson J. Differences in the TREM2 levels in the CSF of Alzheimer’s disease cases and controls Alzheimers & Dementia. 11: 511. DOI: 10.1016/J.Jalz.2015.06.611  0.315
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  0.376
2014 Mok KY, Jones EL, Hanney M, Harold D, Sims R, Williams J, Ballard C, Hardy J. Erratum to "Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome" [Neurobiol. Aging 35 (2014) 1513.e1-1513.e5]. Neurobiology of Aging. 35: 2659. PMID 28911720 DOI: 10.1016/J.Neurobiolaging.2014.06.017  0.312
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  0.392
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  0.339
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  0.423
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  0.343
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  0.447
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  0.481
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  0.349
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  0.415
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  0.429
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  0.451
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  0.407
2014 Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... Hardy J, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1  0.404
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  0.408
2014 Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, ... Hardy J, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Plos One. 9: e94661. PMID 24922517 DOI: 10.1371/Journal.Pone.0094661  0.447
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  0.466
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  0.326
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  0.379
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  0.376
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  0.392
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  0.397
2014 Hardy J, Bogdanovic N, Winblad B, Portelius E, Andreasen N, Cedazo-Minguez A, Zetterberg H. Pathways to Alzheimer's disease. Journal of Internal Medicine. 275: 296-303. PMID 24749173 DOI: 10.1111/Joim.12192  0.456
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  0.309
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  0.342
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  0.325
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  0.319
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  0.306
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  0.397
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  0.396
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  0.425
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  0.425
2014 Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, ... ... Hardy J, et al. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior. 8: 153-82. PMID 24399358 DOI: 10.1007/S11682-013-9269-5  0.31
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  0.44
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  0.358
2014 Hardy J, Rogaeva E. Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not. Experimental Neurology. 262: 75-83. PMID 24246281 DOI: 10.1016/J.Expneurol.2013.11.006  0.384
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  0.372
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  0.371
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  0.437
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  0.382
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  0.376
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  0.335
2014 Andreasson U, Lautner R, Schott JM, Mattsson N, Hansson O, Herukka SK, Helisalmi S, Ewers M, Hampel H, Wallin A, Minthon L, Hardy J, Blennow K, Zetterberg H. CSF biomarkers for Alzheimer's pathology and the effect size of APOE É›4. Molecular Psychiatry. 19: 148-9. PMID 23419830 DOI: 10.1038/Mp.2013.18  0.362
2014 Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F, Saad M, Bras JM, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Gibbs JR, Schulte C, Durr A, ... ... 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, 5, 2013, 1039-1049] doi:10.1093/hmg/dds492 Human Molecular Genetics. 23: 562. DOI: 10.1093/Hmg/Ddt554  0.369
2014 Cruchaga C, Brkanac Z, Jin SC, Benitez BA, Rehker J, Ridge P, Kauwe J, Hardy J, Bras J, Guerreiro R, Singleton A, Goate A. O1-04-02: EXOME-SEQUENCING IN LATE-ONSET FAMILIES IDENTIFIED ADDITIONAL CANDIDATES GENES FOR ALZHEIMER'S DISEASE Alzheimer's & Dementia. 10: P135-P135. DOI: 10.1016/J.Jalz.2014.04.075  0.399
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  0.343
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  0.315
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  0.388
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  0.341
2013 Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, ... ... Hardy J, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics. 45: 1452-8. PMID 24162737 DOI: 10.1038/Ng.2802  0.428
2013 Guerreiro R, Hardy J. TREM2 and neurodegenerative disease. The New England Journal of Medicine. 369: 1569-70. PMID 24143816 DOI: 10.1056/Nejmc1306509  0.381
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  0.376
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  0.338
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  0.404
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  0.413
2013 Bettencourt C, Morris HR, Singleton AB, Hardy J, Houlden H. Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology. 260: 2414-6. PMID 23881105 DOI: 10.1007/S00415-013-7044-6  0.395
2013 Forabosco P, Ramasamy A, Trabzuni D, Walker R, Smith C, Bras J, Levine AP, Hardy J, Pocock JM, Guerreiro R, Weale ME, Ryten M. Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging. 34: 2699-714. PMID 23855984 DOI: 10.1016/J.Neurobiolaging.2013.05.001  0.402
2013 Angeli A, Mencacci NE, Duran R, Aviles-Olmos I, Kefalopoulou Z, Candelario J, Rusbridge S, Foley J, Pradhan P, Jahanshahi M, Zrinzo L, Hariz M, Wood NW, Hardy J, Limousin P, et al. Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 1370-5. PMID 23818421 DOI: 10.1002/Mds.25535  0.384
2013 Kara E, Hardy J, Houlden H. The pallidopyramidal syndromes: nosology, aetiology and pathogenesis. Current Opinion in Neurology. 26: 381-94. PMID 23817214 DOI: 10.1097/Wco.0B013E3283632E83  0.399
2013 Ahmed R, Guerreiro R, Rohrer JD, Guven G, Rossor MN, Hardy J, Fox NC. A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences. 332: 141-4. PMID 23816250 DOI: 10.1016/J.Jns.2013.06.007  0.338
2013 Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA). Current Neuropharmacology. 11: 59-79. PMID 23814539 DOI: 10.2174/157015913804999469  0.39
2013 Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, ... ... Hardy J, et al. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain : a Journal of Neurology. 136: 1708-17. PMID 23687123 DOI: 10.1093/Brain/Awt095  0.347
2013 Ling H, Kara E, Bandopadhyay R, Hardy J, Holton J, Xiromerisiou G, Lees A, Houlden H, Revesz T. TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT. Neurobiology of Aging. 34: 2889.e5-9. PMID 23664753 DOI: 10.1016/J.Neurobiolaging.2013.04.011  0.396
2013 Doherty KM, Hardy J. Parkin disease and the Lewy body conundrum. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 702-4. PMID 23653422 DOI: 10.1002/Mds.25486  0.388
2013 Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, ... ... Hardy J, et al. Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. Jama Neurology. 70: 875-82. PMID 23649896 DOI: 10.1001/Jamaneurol.2013.698  0.391
2013 Hudson G, Nalls M, Evans JR, Breen DP, Winder-Rhodes S, Morrison KE, Morris HR, Williams-Gray CH, Barker RA, Singleton AB, Hardy J, Wood NE, Burn DJ, Chinnery PF. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology. 80: 2042-8. PMID 23645593 DOI: 10.1212/Wnl.0B013E318294B434  0.301
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  0.31
2013 Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, ... ... Hardy J, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. Jama Neurology. 70: 727-35. PMID 23588557 DOI: 10.1001/Jamaneurol.2013.1925  0.408
2013 Pittman A, Hardy J. Genetic analysis in neurology: the next 10 years. Jama Neurology. 70: 696-702. PMID 23571731 DOI: 10.1001/Jamaneurol.2013.2068  0.404
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  0.316
2013 Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, et al. Parkin disease: a clinicopathologic entity? Jama Neurology. 70: 571-9. PMID 23459986 DOI: 10.1001/Jamaneurol.2013.172  0.383
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  0.325
2013 Hardy J. Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 561-2. PMID 23450721 DOI: 10.1002/Mds.25415  0.375
2013 Lashley T, Hardy J, Isaacs AM. RANTing about C9orf72. Neuron. 77: 597-8. PMID 23439112 DOI: 10.1016/J.Neuron.2013.02.009  0.318
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  0.391
2013 Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology. 73: 546-53. PMID 23424103 DOI: 10.1002/Ana.23832  0.345
2013 Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, et al. The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 666-73. PMID 23408064 DOI: 10.1136/Jnnp-2012-304475  0.332
2013 Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL. α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathologica. 125: 753-69. PMID 23404372 DOI: 10.1007/S00401-013-1096-7  0.436
2013 Scahill RI, Ridgway GR, Bartlett JW, Barnes J, Ryan NS, Mead S, Beck J, Clarkson MJ, Crutch SJ, Schott JM, Ourselin S, Warren JD, Hardy J, Rossor MN, Fox NC. Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations. Journal of Alzheimer's Disease : Jad. 35: 199-212. PMID 23380992 DOI: 10.3233/Jad-121255  0.434
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  0.424
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  0.42
2013 Duran R, Mencacci NE, Angeli AV, Shoai M, Deas E, Houlden H, Mehta A, Hughes D, Cox TM, Deegan P, Schapira AH, Lees AJ, Limousin P, Jarman PR, Bhatia KP, ... ... Hardy J, et al. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 232-6. PMID 23225227 DOI: 10.1002/Mds.25248  0.407
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  0.368
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  0.308
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  0.474
2013 Cleeter MW, Chau KY, Gluck C, Mehta A, Hughes DA, Duchen M, Wood NW, Hardy J, Mark Cooper J, Schapira AH. Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochemistry International. 62: 1-7. PMID 23099359 DOI: 10.1016/J.Neuint.2012.10.010  0.356
2013 Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, ... ... Hardy J, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation. 34: 296-300. PMID 23086778 DOI: 10.1002/Humu.22241  0.377
2013 Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, ... ... Hardy J, et al. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry. 18: 721-8. PMID 22889924 DOI: 10.1038/Mp.2012.69  0.348
2013 Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Davis LK, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, ... Hardy J, et al. Genome-wide association study of obsessive-compulsive disorder. Molecular Psychiatry. 18: 788-98. PMID 22889921 DOI: 10.1038/Mp.2012.85  0.323
2013 Li A, Paudel R, Johnson R, Courtney R, Lees AJ, Holton JL, Hardy J, Revesz T, Houlden H. Pantothenate kinase-associated neurodegeneration is not a synucleinopathy. Neuropathology and Applied Neurobiology. 39: 121-31. PMID 22416811 DOI: 10.1111/J.1365-2990.2012.01269.X  0.376
2013 Kero M, Ferrari R, Mok K, Paetau A, Tienari PJ, Tynninen O, Hardy J, Momeni P, Verkkoniemi-Ahola A, Myllykangas L. A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma Molecular Neurodegeneration. 8: P60. DOI: 10.1186/1750-1326-8-S1-P60  0.412
2013 Hardy J. Genetic analysis of neurodegeneration.. the end game. Molecular Neurodegeneration. 8: 1-1. DOI: 10.1186/1750-1326-8-S1-O12  0.421
2013 Doherty KM, Moriyama LS–, Parkkinen L, Healy DG, Farrell M, Mencacci NE, Ahmed Z, Brett FM, Hardy J, Quinn N, Counihan TJ, Lynch T, Fox ZV, Revesz T, Lees AJ, et al. Parkin Disease–A Clinicopathological Entity? Journal of Neurology, Neurosurgery, and Psychiatry. 84. DOI: 10.1136/Jnnp-2013-306573.13  0.387
2013 Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Siḿn-śnchez J, Mittag F, B̈chel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, ... ... Hardy J, et al. Corrigendum to Using genome-wide complex trait analysis to quantify 'missing heritability' in parkinson's disease [Human Molecular Genetics, 21:22 (2012) 4996-5009] doi: 10.1093/hmg/dds335] Human Molecular Genetics. 22: 1696. DOI: 10.1093/Hmg/Ddt030  0.367
2013 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. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nature Genetics. 45: 712-712. DOI: 10.1038/Ng0613-712A  0.397
2013 Gurvit H, Bilgic B, Hanagasi H, Guerreiro R, Hardy J. Homozygous TREM2 mutations: Another addition to the list of genetic causes of familial frontotemporal dementia Alzheimers & Dementia. 9: 860. DOI: 10.1016/J.Jalz.2013.08.183  0.379
2013 Andreasson U, Lautner R, Schott J, Mattsson N, Hansson O, Herukka S, Ewers M, Hampel H, Wallin A, Minthon L, Fox N, Hardy J, Blennow K, Zetterberg H. CSF biomarkers for Alzheimer's pathology and the effect size of APOE-ε4 Alzheimers & Dementia. 9: 174. DOI: 10.1016/J.Jalz.2013.05.282  0.331
2012 Kojovic M, Sheerin UM, Rubio-Agusti I, Saha A, Bras J, Gibbons V, Palmer R, Houlden H, Hardy J, Wood NW, Bhatia KP. Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1827-9. PMID 23283657 DOI: 10.1002/Mds.25199  0.407
2012 Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, KasperavičiÅ«tÄ— D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, et al. Characterisation and validation of insertions and deletions in 173 patient exomes. Plos One. 7: e51292. PMID 23251486 DOI: 10.1371/Journal.Pone.0051292  0.365
2012 Swaminathan S, Huentelman MJ, Corneveaux JJ, Myers AJ, Faber KM, Foroud T, Mayeux R, Shen L, Kim S, Turk M, Hardy J, Reiman EM, Saykin AJ. Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Plos One. 7: e50640. PMID 23227193 DOI: 10.1371/Journal.Pone.0050640  0.452
2012 Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, ... ... Hardy J, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics. 91: 1144-9. PMID 23176820 DOI: 10.1016/J.Ajhg.2012.10.019  0.362
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  0.444
2012 Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Annals of Neurology. 72: 455-63. PMID 23034917 DOI: 10.1002/Ana.23614  0.356
2012 Crehan H, Hardy J, Pocock J. Microglia, Alzheimer's disease, and complement. International Journal of Alzheimer's Disease. 2012: 983640. PMID 22957298 DOI: 10.1155/2012/983640  0.378
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  0.359
2012 Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP. THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1290-4. PMID 22903657 DOI: 10.1002/Mds.25146  0.35
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  0.433
2012 Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology. 79: 435-41. PMID 22815559 DOI: 10.1212/Wnl.0B013E318261714A  0.364
2012 Mittag F, Büchel F, Saad M, Jahn A, Schulte C, Bochdanovits Z, Simón-Sánchez J, Nalls MA, Keller M, Hernandez DG, Gibbs JR, Lesage S, Brice A, Heutink P, Martinez M, ... ... Hardy J, et al. Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Human Mutation. 33: 1708-18. PMID 22777693 DOI: 10.1002/Humu.22161  0.381
2012 Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H. Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts. Neuroscience Letters. 523: 35-8. PMID 22743658 DOI: 10.1016/J.Neulet.2012.06.036  0.385
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  0.378
2012 Bras J, Guerreiro R, Hardy J. Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nature Reviews. Neuroscience. 13: 453-64. PMID 22714018 DOI: 10.1038/Nrn3271  0.401
2012 Patani R, Lewis PA, Trabzuni D, Puddifoot CA, Wyllie DJ, Walker R, Smith C, Hardingham GE, Weale M, Hardy J, Chandran S, Ryten M. Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis. Journal of Neurochemistry. 122: 738-51. PMID 22681703 DOI: 10.1111/J.1471-4159.2012.07825.X  0.316
2012 Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 79: 127-31. PMID 22675081 DOI: 10.1212/Wnl.0B013E31825F048E  0.383
2012 Duran R, McNeill A, Mehta A, Hughes D, Cox T, Deegan P, Schapira AH, Hardy J. Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism. 106: 495-7. PMID 22658918 DOI: 10.1016/J.Ymgme.2012.05.006  0.421
2012 Hardy J, Revesz T. The spread of neurodegenerative disease. The New England Journal of Medicine. 366: 2126-8. PMID 22646635 DOI: 10.1056/Nejmcibr1202401  0.418
2012 Kara E, Ling H, Pittman AM, Shaw K, de Silva R, Simone R, Holton JL, Warren JD, Rohrer JD, Xiromerisiou G, Lees A, Hardy J, Houlden H, Revesz T. The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiology of Aging. 33: 2231.e7-2231.e14. PMID 22595371 DOI: 10.1016/J.Neurobiolaging.2012.04.006  0.455
2012 Tucci A, Charlesworth G, Sheerin UM, Plagnol V, Wood NW, Hardy J. Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neuroscience Letters. 518: 19-22. PMID 22561553 DOI: 10.1016/J.Neulet.2012.04.033  0.404
2012 Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, ... ... Hardy J, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics. 44: 552-61. PMID 22504417 DOI: 10.1038/Ng.2250  0.335
2012 Xiromerisiou G, Houlden H, Sailer A, Silveira-Moriyama L, Hardy J, Lees AJ. Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1323. PMID 22488887 DOI: 10.1002/Mds.24924  0.409
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  0.348
2012 Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, et al. Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging. 33: 1850.e1-11. PMID 22459598 DOI: 10.1016/J.Neurobiolaging.2012.02.017  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  0.337
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  0.441
2012 Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, ... ... Hardy J, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology. 11: 323-30. PMID 22406228 DOI: 10.1016/S1474-4422(12)70043-1  0.374
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  0.368
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  0.397
2012 McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, Hardy J, Wood NW, Schapira AH. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 526-32. PMID 22344629 DOI: 10.1002/Mds.24945  0.348
2012 Hardy J. Genetic analysis of disease in the era of whole genome analysis and public databases. Neurobiology of Aging. 33: 635. PMID 22330098 DOI: 10.1016/J.Neurobiolaging.2011.12.039  0.34
2012 Dobricic V, Stefanova E, Jankovic M, Gurunlian N, Novakovic I, Hardy J, Kostic V, Guerreiro R. Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiology of Aging. 33: 1481.e7-12. PMID 22221884 DOI: 10.1016/J.Neurobiolaging.2011.12.007  0.459
2012 Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, et al. Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging. 33: 838.e7-11. PMID 22221882 DOI: 10.1016/J.Neurobiolaging.2011.11.001  0.335
2012 Majounie E, Abramzon Y, Renton AE, Perry R, Bassett SS, Pletnikova O, Troncoso JC, Hardy J, Singleton AB, Traynor BJ. Repeat expansion in C9ORF72 in Alzheimer's disease. The New England Journal of Medicine. 366: 283-4. PMID 22216764 DOI: 10.1056/Nejmc1113592  0.456
2012 Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, ... Hardy J, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 393-9. PMID 22173904 DOI: 10.1002/Mds.24045  0.464
2012 Goate A, Hardy J. Twenty years of Alzheimer's disease-causing mutations. Journal of Neurochemistry. 120: 3-8. PMID 22122678 DOI: 10.1111/J.1471-4159.2011.07575.X  0.405
2012 Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 42-53. PMID 22031173 DOI: 10.1002/Mds.23971  0.38
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  0.488
2012 Huey ED, Ferrari R, Moreno JH, Jensen C, Morris CM, Potocnik F, Kalaria RN, Tierney M, Wassermann EM, Hardy J, Grafman J, Momeni P. FUS and TDP43 genetic variability in FTD and CBS. Neurobiology of Aging. 33: 1016.e9-17. PMID 21943958 DOI: 10.1016/J.Neurobiolaging.2011.08.004  0.378
2012 Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chiò A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, ... ... Hardy J, et al. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiology of Aging. 33: 209.e3-8. PMID 21925771 DOI: 10.1016/J.Neurobiolaging.2011.08.005  0.335
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  0.433
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  0.437
2012 Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H. Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiology of Aging. 33: 814-23. PMID 20619503 DOI: 10.1016/J.Neurobiolaging.2010.05.009  0.399
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  0.453
2012 Kojovic M, Sheerin U, Rubio-Agusti I, Bras J, Wood N, Houlden H, Hardy J, Bhatia K. Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan (P01.212) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P01.212  0.373
2012 Scharf J, Yu D, Mathews C, Neale B, Stewart E, Fagerness J, Evans P, Gamazon E, Service S, Osiecki L, Illmann C, Cath D, King R, Dion Y, Sandor P, ... ... Hardy J, et al. Genome-Wide Association Study of Gilles de la Tourette Syndrome (IN10-1.002) Neurology. 78: IN10-1.002-IN10-1.00. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In10-1.002  0.318
2012 Mahoney CJ, Rohrer JD, Beck J, Shakespeare T, Yeatman T, Schot JM, Fox N, Rossor MN, Hardy J, Collinge J, Mead S, Warren JD. The neuroimaging phenotype of frontotemporal dementia with the C9ORF72 hexanucletoide repeat expansion Alzheimers & Dementia. 8: 8. DOI: 10.1016/J.Jalz.2012.05.025  0.347
2011 Hardy J, Guerreiro R, Lovestone S. Clusterin as an Alzheimer biomarker. Archives of Neurology. 68: 1459-60. PMID 22084130 DOI: 10.1001/Archneurol.2011.1000  0.347
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  0.389
2011 Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, et al. Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain : a Journal of Neurology. 134: 2565-81. PMID 21908872 DOI: 10.1093/Brain/Awr198  0.421
2011 Ferrari R, Hardy J, Momeni P. Frontotemporal dementia: from Mendelian genetics towards genome wide association studies. Journal of Molecular Neuroscience : Mn. 45: 500-15. PMID 21898125 DOI: 10.1007/S12031-011-9635-Y  0.412
2011 Devine MJ, Gwinn K, Singleton A, Hardy J. Parkinson's disease and α-synuclein expression. Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2160-8. PMID 21887711 DOI: 10.1002/Mds.23948  0.462
2011 Singleton A, Hardy J. A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Human Molecular Genetics. 20: R158-62. PMID 21875901 DOI: 10.1093/Hmg/Ddr358  0.413
2011 Devine MJ, Ryten M, Vodicka P, Thomson AJ, Burdon T, Houlden H, Cavaleri F, Nagano M, Drummond NJ, Taanman JW, Schapira AH, Gwinn K, Hardy J, Lewis PA, Kunath T. Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nature Communications. 2: 440. PMID 21863007 DOI: 10.1038/Ncomms1453  0.37
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  0.368
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  0.431
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  0.418
2011 Balazs R, Vernon J, Hardy J. Epigenetic mechanisms in Alzheimer's disease: progress but much to do. Neurobiology of Aging. 32: 1181-7. PMID 21669333 DOI: 10.1016/J.Neurobiolaging.2011.02.024  0.405
2011 Peuralinna T, Tanskanen M, Mäkelä M, Polvikoski T, Paetau A, Kalimo H, Sulkava R, Hardy J, Lai SL, Arepalli S, Hernandez D, Traynor BJ, Singleton A, Tienari PJ, Myllykangas L. APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis. Journal of Alzheimer's Disease : Jad. 26: 377-85. PMID 21654062 DOI: 10.3233/Jad-2011-102049  0.421
2011 Gasser T, Hardy J, Mizuno Y. Milestones in PD genetics. Movement Disorders. 26: 1042-1048. PMID 21626549 DOI: 10.1002/Mds.23637  0.473
2011 Parkkinen L, Neumann J, O'Sullivan SS, Holton JL, Revesz T, Hardy J, Lees AJ. Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease. Molecular Genetics and Metabolism. 103: 410-2. PMID 21621439 DOI: 10.1016/J.Ymgme.2011.04.015  0.425
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  0.337
2011 Hardy J, Guerreiro R. A new way APP mismetabolism can lead to Alzheimer's disease Embo Molecular Medicine. 3: 247-248. PMID 21523909 DOI: 10.1002/Emmm.201100139  0.389
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  0.336
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  0.411
2011 Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S. Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 758.e1-7. PMID 21257233 DOI: 10.1016/J.Neurobiolaging.2010.12.005  0.362
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  0.338
2011 Camargos ST, Gurgel-Giannetti J, Lees A, Hardy J, Singleton A, Cardoso F. Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. Journal of Neurology, Neurosurgery, and Psychiatry. 82: 1059-60. PMID 20551478 DOI: 10.1136/Jnnp.2009.200808  0.304
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  0.308
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  0.383
2010 Hardy J. Genetic Analysis of Pathways to Parkinson Disease Neuron. 68: 201-206. PMID 20955928 DOI: 10.1016/J.Neuron.2010.10.014  0.407
2010 Hardy J. Sample tracking and use in published genome-wide association studies. Jama Neurology. 67: 1267-1268. PMID 20937956 DOI: 10.1001/Archneurol.2010.251  0.385
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  0.41
2010 Singleton AB, Hardy J, Traynor BJ, Houlden H. Towards a complete resolution of the genetic architecture of disease. Trends in Genetics : Tig. 26: 438-42. PMID 20813421 DOI: 10.1016/J.Tig.2010.07.004  0.412
2010 Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, ... ... Hardy J, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. The Lancet. Neurology. 9: 986-94. PMID 20801717 DOI: 10.1016/S1474-4422(10)70197-6  0.326
2010 Momeni P, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR. Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia. Clinical Neurology and Neurosurgery. 112: 917-20. PMID 20708332 DOI: 10.1016/J.Clineuro.2010.07.015  0.41
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  0.403
2010 Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E, Schneider SA, Schwingenschuh P, Bajaj N, Emre M, Singleton AB, Hardy J, Bhatia KP, Brandner S, Lees AJ, et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 1791-800. PMID 20669327 DOI: 10.1002/Mds.23221  0.414
2010 Zetzsche T, Rujescu D, Hardy J, Hampel H. Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease. Expert Review of Molecular Diagnostics. 10: 667-90. PMID 20629514 DOI: 10.1586/Erm.10.48  0.434
2010 Aggarwal A, Schneider SA, Houlden H, Silverdale M, Paudel R, Paisan-Ruiz C, Desai S, Munshi M, Sanghvi D, Hardy J, Bhatia KP, Bhatt M. Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 1424-31. PMID 20629144 DOI: 10.1002/Mds.23095  0.402
2010 Hampel H, Frank R, Broich K, Teipel SJ, Katz RG, Hardy J, Herholz K, Bokde AL, Jessen F, Hoessler YC, Sanhai WR, Zetterberg H, Woodcock J, Blennow K. Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nature Reviews. Drug Discovery. 9: 560-74. PMID 20592748 DOI: 10.1038/Nrd3115  0.392
2010 Ferrari R, Kapogiannis D, Huey ED, Grafman J, Hardy J, Momeni P. Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia. Alzheimer Disease and Associated Disorders. 24: 397-401. PMID 20592581 DOI: 10.1097/Wad.0B013E3181Df20C7  0.42
2010 Hardy J, Williams J. Identification of Alzheimer risk factors through whole-genome analysis. Archives of Neurology. 67: 663-4. PMID 20558384 DOI: 10.1001/Archneurol.2010.97  0.308
2010 Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, ... Hardy J, et al. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Human Molecular Genetics. 19: 3295-301. PMID 20534741 DOI: 10.1093/Hmg/Ddq221  0.407
2010 Antonarakis SE, Chakravarti A, Cohen JC, Hardy J. Mendelian disorders and multifactorial traits: the big divide or one for all? Nature Reviews. Genetics. 11: 380-4. PMID 20395971 DOI: 10.1038/Nrg2793  0.366
2010 Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP. ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 979-84. PMID 20310007 DOI: 10.1002/Mds.22947  0.328
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  0.342
2010 Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology. 74: 846-50. PMID 20211909 DOI: 10.1212/Wnl.0B013E3181D5276D  0.363
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  0.43
2010 Matarin M, Singleton A, Hardy J, Meschia J. The genetics of ischaemic stroke. Journal of Internal Medicine. 267: 139-55. PMID 20175863 DOI: 10.1111/J.1365-2796.2009.02202.X  0.302
2010 Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, ... ... Hardy J, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature Genetics. 42: 234-9. PMID 20154673 DOI: 10.1038/Ng.536  0.379
2010 Momeni P, DeTucci K, Straub RE, Weinberger DR, Davies P, Grafman J, Hardy J, Huey ED. Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia. Neurocase. 16: 273-9. PMID 20087814 DOI: 10.1080/13554790903456209  0.311
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  0.398
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  0.367
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  0.431
2010 Huentelman M, Corneveaux J, Myers A, Allen A, Pruzin J, Nalls M, Chibnik L, Singleton A, Craig D, Van Keuren-Jensen K, Dunckley T, Bennett D, DeJager P, Hardy J, Reiman E. S4-03-02: Genome-Wide Association Study for Alzheimer's Disease Risk in a Large Cohort Of Clinically Characterized And Neuropathologically Verified Subjects Alzheimer's & Dementia. 6: e13-e13. DOI: 10.1016/J.Jalz.2010.08.041  0.395
2009 Blom ES, Giedraitis V, Arepalli S, Hamshere ML, Adighibe O, Goate A, Williams J, Lannfelt L, Hardy J, Vrièze FW, Glaser A. Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. Bmc Medical Genetics. 10: 122. PMID 19951422 DOI: 10.1186/1471-2350-10-122  0.43
2009 Dickson DW, Braak H, Duda JE, Duyckaerts C, Gasser T, Halliday GM, Hardy J, Leverenz JB, Del Tredici K, Wszolek ZK, Litvan I. Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. The Lancet. Neurology. 8: 1150-7. PMID 19909913 DOI: 10.1016/S1474-4422(09)70238-8  0.358
2009 Hardy J, Trabzuni D, Ryten M. Whole genome expression as a quantitative trait Biochemical Society Transactions. 37: 1276-1277. PMID 19909261 DOI: 10.1042/Bst0371276  0.368
2009 Liu W, Ding J, Gibbs JR, Wang SJ, Hardy J, Singleton A. A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Molecular Systems Biology. 5: 304. PMID 19756043 DOI: 10.1038/Msb.2009.53  0.384
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  0.371
2009 Ryten M, Trabzuni D, Hardy J. Genotypic analysis of gene expression in the dissection of the aetiology of complex neurological and psychiatric diseases Briefings in Functional Genomics and Proteomics. 8: 194-198. PMID 19734301 DOI: 10.1093/Bfgp/Elp028  0.389
2009 Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, Quinn NP, Weber YG, Lerche H, Hardy J, Bhatia KP. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias Movement Disorders. 24: 1684-1688. PMID 19630075 DOI: 10.1002/Mds.22507  0.346
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  0.412
2009 Hardy J. The amyloid hypothesis for Alzheimer’s disease: a critical reappraisal Journal of Neurochemistry. 110: 1129-1134. PMID 19457065 DOI: 10.1111/J.1471-4159.2009.06181.X  0.366
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  0.41
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  0.376
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  0.33
2009 Hardy J, Singleton A. Genomewide association studies and human disease. The New England Journal of Medicine. 360: 1759-68. PMID 19369657 DOI: 10.1056/Nejmra0808700  0.372
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  0.38
2009 Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain : a Journal of Neurology. 132: 1783-94. PMID 19286695 DOI: 10.1093/Brain/Awp044  0.449
2009 Nalls MA, Simon-Sanchez J, Gibbs JR, Paisan-Ruiz C, Bras JT, Tanaka T, Matarin M, Scholz S, Weitz C, Harris TB, Ferrucci L, Hardy J, Singleton AB. Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. Plos Genetics. 5: e1000415. PMID 19282984 DOI: 10.1371/Journal.Pgen.1000415  0.308
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  0.419
2009 Camargos ST, Dornas LO, Momeni P, Lees A, Hardy J, Singleton A, Cardoso F. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 662-6. PMID 19205068 DOI: 10.1002/Mds.22365  0.418
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  0.344
2009 Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes Movement Disorders. 24: 490-499. PMID 19185014 DOI: 10.1002/Mds.22314  0.321
2009 Schneider SA, Hardy J, Bhatia KP. Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: Causative or consequential? Journal of Neurology, Neurosurgery and Psychiatry. 80: 589-590. PMID 19147629 DOI: 10.1136/Jnnp.2008.169953  0.307
2009 Wickremaratchi MM, Majounie E, Morris HR, Williams NM, Lewis H, Gill SS, Khan S, Heywood P, Hardy J, Wiles CM, Singleton AB, Quinn NP. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome. Movement Disorders : Official Journal of the Movement Disorder Society. 24: 138-40. PMID 18942080 DOI: 10.1002/Mds.22181  0.318
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  0.354
2009 Momeni P, Pittman A, Lashley T, Vandrovcova J, Malzer E, Luk C, Hulette C, Lees A, Revesz T, Hardy J, de Silva R. Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation. Neurobiology of Aging. 30: 388-93. PMID 17723255 DOI: 10.1016/J.Neurobiolaging.2007.07.013  0.423
2009 Hardy J. 11. Molecular genetics of Alzheimer's disease Acta Neurologica Scandinavica. 82: 29-31. PMID 2220322 DOI: 10.1111/J.1600-0404.1990.Tb02601.X  0.42
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. Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nature Genetics. 41: 1156-1156. DOI: 10.1038/Ng1009-1156D  0.346
2009 Li A, Paisan-Ruiz C, Bhatia K, Schneider S, Hardy J, Kidd D, Chataway J, Holton J, Houlden H, Revesz T. P1.060 Pathological observations in seven cases with neurodegeneration with brain iron accumulation (NBIA) with mutations in PANK2 and PLA2G6 Parkinsonism & Related Disorders. 15. DOI: 10.1016/S1353-8020(09)70182-8  0.302
2009 Ryan N, McNaughton D, Knight W, Guerreiro R, Poulter M, Nicholl D, Hardy J, Rossor M, Collinge J, Mead S. Duplications of APP—but not PRNP—are a significant cause of early-onset dementia in a large UK referral series Alzheimers & Dementia. 5: 460. DOI: 10.1016/J.Jalz.2009.04.869  0.331
2009 Sims R, Hollingworth P, Abraham R, Harold D, Holmans P, Lovestone S, Powell J, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Craig D, Passmore P, Nöthen M, Mayer W, ... ... Hardy J, et al. P4-120: Investigating psychosis candidate genes in Alzheimer's disease with psychosis using genome-wide association studies Alzheimer's & Dementia. 5: P466-P467. DOI: 10.1016/J.Jalz.2009.04.788  0.412
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  0.341
2008 Okubadejo N, Britton A, Crews C, Akinyemi R, Hardy J, Singleton A, Bras J. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. Plos One. 3: e3421. PMID 18927607 DOI: 10.1371/Journal.Pone.0003421  0.414
2008 Plun-Favreau H, Hardy J. PINK1 in mitochondrial function. Proceedings of the National Academy of Sciences of the United States of America. 105: 11041-2. PMID 18687903 DOI: 10.1073/Pnas.0805908105  0.355
2008 Peuralinna T, Oinas M, Polvikoski T, Paetau A, Sulkava R, Niinistö L, Kalimo H, Hernandez D, Hardy J, Singleton A, Tienari PJ, Myllykangas L. Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Annals of Neurology. 64: 348-52. PMID 18661559 DOI: 10.1002/Ana.21446  0.335
2008 Hardy J, Gwinn‐Hardy K. The relationship between nosology, etiology and pathogenesis in neurodegenerative diseases Handbook of Clinical Neurology. 89: 189-192. PMID 18631743 DOI: 10.1016/S0072-9752(07)01217-1  0.338
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  0.397
2008 Rogaeva E, Hardy J. Gaucher and Parkinson diseases: Unexpectedly related Neurology. 70: 2272-2273. PMID 18541881 DOI: 10.1212/01.Wnl.0000314657.92762.0F  0.411
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  0.369
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  0.365
2008 Tanskanen M, Peuralinna T, Polvikoski T, Notkola IL, Sulkava R, Hardy J, Singleton A, Kiuru-Enari S, Paetau A, Tienari PJ, Myllykangas L. Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Annals of Medicine. 40: 232-9. PMID 18382889 DOI: 10.1080/07853890701842988  0.326
2008 Hardy J, Singleton A. The HapMap: charting a course for genetic discovery in neurological diseases. Archives of Neurology. 65: 319-21. PMID 18332243 DOI: 10.1001/Archneur.65.3.319  0.401
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  0.438
2008 Bras J, Guerreiro R, Ribeiro M, Morgadinho A, Januario C, Dias M, Calado A, Semedo C, Oliveira C, Hardy J, Singleton A. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. Bmc Neurology. 8: 1. PMID 18211709 DOI: 10.1186/1471-2377-8-1  0.417
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  0.327
2008 Simon-Sanchez J, Scholz S, Matarin Mdel M, Fung HC, Hernandez D, Gibbs JR, Britton A, Hardy J, Singleton A. Genomewide SNP assay reveals mutations underlying Parkinson disease. Human Mutation. 29: 315-22. PMID 17994548 DOI: 10.1002/Humu.20626  0.417
2008 Williams J, Abraham R, Morgan A, Sims R, Hollingworth P, O'Donovan M, Owen M, Holmans P, Nikolov I, Moskvina V, Lovestone S, Rubinsztein D, Brayne C, Gill M, Lawlor B, ... ... Hardy J, et al. O2-06-01: A powerful, genome-wide association scan for susceptibility genes for late-onset Alzheimer's disease Alzheimer's & Dementia. 4: T143-T143. DOI: 10.1016/J.Jalz.2008.05.349  0.383
2008 Frangipane F, Colao R, Mirabelli M, Puccio G, Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Maletta R, Smirne N, Elder J, Kawarai T, Sato C, Pradella S, ... ... Hardy J, et al. P3-279: A novel progranulin mutation in a large frontotemporal dementia calabrian kindred Alzheimer's & Dementia. 4: T604-T604. DOI: 10.1016/J.Jalz.2008.05.1847  0.344
2008 Clarimón J, Guerreiro R, Lleó A, Guardia C, Blesa R, Gómez-Isla T, Boada M, Bullido M, Ferrer I, Martínez-Lage P, Masdeu J, Molina L, Molinuevo JL, Pastor P, Pérez-Tur J, ... ... Hardy J, et al. P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1780  0.441
2008 Vandrovcova J, Dunn L, Malzer E, Hardy J, Silva Rd. P2-175: Tau gene-specific natural antisense transcript expression and splicing in sporadic tauopathies Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1249  0.306
2007 Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, Miller R, Sorenson E, Tandan R, Traynor BJ, Nash J, et al. Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. Plos One. 2: e1254. PMID 18060051 DOI: 10.1371/Journal.Pone.0001254  0.371
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  0.326
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  0.352
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  0.368
2007 Hardy J, Singleton A. Reporting and interpretation of genetic variants in cases and controls. Neurology. 69: 111-2. PMID 17606889 DOI: 10.1212/01.Wnl.0000265059.56575.A6  0.376
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  0.357
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  0.396
2007 Chen K, Reiman EM, Alexander GE, Caselli RJ, Gerkin R, Bandy D, Domb A, Osborne D, Fox N, Crum WR, Saunders AM, Hardy J. Correlations between apolipoprotein E epsilon4 gene dose and whole brain atrophy rates. The American Journal of Psychiatry. 164: 916-21. PMID 17541051 DOI: 10.1176/Ajp.2007.164.6.916  0.398
2007 De Ferrari GV, Papassotiropoulos A, Biechele T, Wavrant De-Vrieze F, Avila ME, Major MB, Myers A, Sáez K, Henríquez JP, Zhao A, Wollmer MA, Nitsch RM, Hock C, Morris CM, Hardy J, et al. Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America. 104: 9434-9. PMID 17517621 DOI: 10.1073/Pnas.0603523104  0.432
2007 Hollingworth P, Hamshere ML, Holmans PA, O'Donovan MC, Sims R, Powell J, Lovestone S, Myers A, DeVrieze FW, Hardy J, Goate A, Owen M, Williams J. Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 144: 841-8. PMID 17492769 DOI: 10.1002/Ajmg.B.30515  0.391
2007 Litvan I, Chesselet MF, Gasser T, Di Monte DA, Parker D, Hagg T, Hardy J, Jenner P, Myers RH, Price D, Hallett M, Langston WJ, Lang AE, Halliday G, Rocca W, et al. The etiopathogenesis of Parkinson disease and suggestions for future research. Part II. Journal of Neuropathology and Experimental Neurology. 66: 329-36. PMID 17483689 DOI: 10.1097/Nen.0B013E318053716A  0.309
2007 Low NC, Hardy J. What Is a Schizophrenic Mouse Neuron. 54: 348-349. PMID 17481386 DOI: 10.1016/J.Neuron.2007.04.014  0.339
2007 Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, Zismann VL, Beach TG, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Walker DG, Ravid R, ... Hardy J, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. The Journal of Clinical Psychiatry. 68: 613-8. PMID 17474819 DOI: 10.4088/Jcp.V68N0419  0.434
2007 Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, ... ... Hardy J, et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. Journal of Neurology, Neurosurgery, and Psychiatry. 78: 754-6. PMID 17371905 DOI: 10.1136/Jnnp.2006.109553  0.324
2007 Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, ... ... Hardy J, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. The Lancet. Neurology. 6: 322-8. PMID 17362836 DOI: 10.1016/S1474-4422(07)70037-6  0.336
2007 Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, ... ... Hardy J, et al. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 68: 812-9. PMID 17353469 DOI: 10.1212/01.Wnl.0000256715.13907.D3  0.351
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  0.428
2007 Hardy J, Myers A. Genetic variability in expression of proteins and the risk of sporadic neurologic diseases Neurology. 68: 632-633. PMID 17325268 DOI: 10.1212/01.Wnl.0000256793.58438.C4  0.447
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  0.425
2007 Hardy J. Putting presenilins centre stage: Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease Embo Reports. 8: 134-135. PMID 17268503 DOI: 10.1038/Sj.Embor.7400899  0.37
2007 Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, ... ... Hardy J, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiology of Disease. 25: 561-70. PMID 17174556 DOI: 10.1016/J.Nbd.2006.10.018  0.393
2006 Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V, Hellström O, Chen CM, Duckworth J, Papadimitriou A, Tienari PJ, Hadjigeorgiou GM, Hardy J, Singleton AB. Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts. Neuro-Degenerative Diseases. 3: 327-33. PMID 17192721 DOI: 10.1159/000097301  0.345
2006 Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. Bmc Neurology. 6: 47. PMID 17187665 DOI: 10.1186/1471-2377-6-47  0.342
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  0.365
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  0.429
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  0.379
2006 Masellis M, Momeni P, Meschino W, Heffner R, Elder J, Sato C, Liang Y, St George-Hyslop P, Hardy J, Bilbao J, Black S, Rogaeva E. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain : a Journal of Neurology. 129: 3115-23. PMID 17030534 DOI: 10.1093/Brain/Awl276  0.4
2006 Hardy J. A Hundred Years of Alzheimer's Disease Research Neuron. 52: 3-13. PMID 17015223 DOI: 10.1016/J.Neuron.2006.09.016  0.368
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  0.353
2006 Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, ... ... Hardy J, et al. Genetic variability in CHMP2B and frontotemporal dementia. Neuro-Degenerative Diseases. 3: 129-33. PMID 16954699 DOI: 10.1159/000094771  0.391
2006 Hardy J. No definitive evidence for a role for the environment in the etiology of Parkinson's disease. Movement Disorders. 21: 1790-1791. PMID 16941458 DOI: 10.1002/Mds.21067  0.381
2006 Hardy J. Alzheimer's disease: the amyloid cascade hypothesis: an update and reappraisal. Journal of Alzheimer's Disease. 9: 151-153. PMID 16914853 DOI: 10.3233/Jad-2006-9S317  0.413
2006 Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JS, Smemo S, Hinrichs A, Tacey K, Toombs TA, Kwok S, Catanese J, White TJ, Maxwell TJ, Hollingworth P, Abraham R, ... ... Hardy J, et al. DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Human Molecular Genetics. 15: 2560-8. PMID 16847012 DOI: 10.1093/Hmg/Ddl178  0.332
2006 Hardy J, Cullen K. Amyloid at the blood vessel wall Nature Medicine. 12: 756-757. PMID 16829930 DOI: 10.1038/Nm0706-756  0.316
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  0.437
2006 Hardy J, Orr H. The genetics of neurodegenerative diseases Journal of Neurochemistry. 97: 1690-1699. PMID 16805777 DOI: 10.1111/J.1471-4159.2006.03979.X  0.416
2006 Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain : a Journal of Neurology. 129: 2318-31. PMID 16702189 DOI: 10.1093/Brain/Awl120  0.328
2006 Clarimon J, Scholz S, Fung H, Hardy J, Eerola J, Hellström O, Chen C, Wu Y, Tienari PJ, Singleton A. Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease American Journal of Human Genetics. 78: 1082-1083. PMID 16685660 DOI: 10.1086/504727  0.364
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  0.395
2006 Merikangas KR, Low NCP, Hardy J. Commentary: Understanding sources of complexity in chronic diseases - The importance of integration of genetics and epidemiology International Journal of Epidemiology. 35: 590-592. PMID 16540533 DOI: 10.1093/Ije/Dyl007  0.372
2006 Fung HC, Chen CM, Hardy J, Hernandez D, Singleton A, Wu YR. Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 880-1. PMID 16511860 DOI: 10.1002/Mds.20814  0.374
2006 Malkani R, D'Souza I, Gwinn-Hardy K, Schellenberg GD, Hardy J, Momeni P. A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia. Neurobiology of Disease. 22: 401-3. PMID 16503405 DOI: 10.1016/J.Nbd.2005.12.001  0.423
2006 Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J. Tangle diseases and the tau haplotypes. Alzheimer Disease and Associated Disorders. 20: 60-2. PMID 16493238 DOI: 10.1097/01.Wad.0000201853.54493.D8  0.421
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