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John Hardy, PhD, Imperial College 1979 - Publications

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

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

Year Citation  Score
2022 Wong HY, Zhong H, Zhong M, Zhou X, Chan PYC, Kwok TCY, Mok K, Hardy J, Ip FCF, Fu AKY, Ip NY. Demographics and Medication Use of Patients with Late-Onset Alzheimer's Disease in Hong Kong. Journal of Alzheimer's Disease : Jad. PMID 35466936 DOI: 10.3233/JAD-215312  0.374
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  0.447
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  0.734
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  0.406
2022 van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Hardy J, et al. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. PMID 35102318 DOI: 10.1038/s41588-022-01020-3  0.662
2021 van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, ... ... Hardy J, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 53: 1636-1648. PMID 34873335 DOI: 10.1038/s41588-021-00973-1  0.695
2021 Sayed FA, Kodama L, Fan L, Carling GK, Udeochu JC, Le D, Li Q, Zhou L, Wong MY, Horowitz R, Ye P, Mathys H, Wang M, Niu X, Mazutis L, ... ... Hardy J, et al. AD-linked R47H- mutation induces disease-enhancing microglial states via AKT hyperactivation. Science Translational Medicine. 13: eabe3947. PMID 34851693 DOI: 10.1126/scitranslmed.abe3947  0.323
2021 Mallach A, Gobom J, Arber C, Piers TM, Hardy J, Wray S, Zetterberg H, Pocock J. Differential Stimulation of Pluripotent Stem Cell-Derived Human Microglia Leads to Exosomal Proteomic Changes Affecting Neurons. Cells. 10. PMID 34831089 DOI: 10.3390/cells10112866  0.485
2021 Mallach A, Gobom J, Zetterberg H, Hardy J, Piers TM, Wray S, Pocock JM. The influence of the R47H triggering receptor expressed on myeloid cells 2 variant on microglial exosome profiles. Brain Communications. 3: fcab009. PMID 34704019 DOI: 10.1093/braincomms/fcab009  0.473
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  0.434
2021 Kumar A, Shoai M, Palmqvist S, Stomrud E, Hardy J, Mattsson-Carlgren N, Hansson O. Genetic effects on longitudinal cognitive decline during the early stages of Alzheimer's disease. Scientific Reports. 11: 19853. PMID 34615922 DOI: 10.1038/s41598-021-99310-z  0.3
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  0.816
2021 Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, ... ... Hardy J, et al. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology. PMID 34459874 DOI: 10.1001/jamaneurol.2021.2598  0.7
2021 Hampel H, Hardy J, Blennow K, Chen C, Perry G, Kim SH, Villemagne VL, Aisen P, Vendruscolo M, Iwatsubo T, Masters CL, Cho M, Lannfelt L, Cummings JL, Vergallo A. The Amyloid-β Pathway in Alzheimer's Disease. Molecular Psychiatry. PMID 34456336 DOI: 10.1038/s41380-021-01249-0  0.338
2021 Lalli G, Schott JM, Hardy J, De Strooper B. Aducanumab: a new phase in therapeutic development for Alzheimer's disease? Embo Molecular Medicine. e14781. PMID 34338436 DOI: 10.15252/emmm.202114781  0.328
2021 Hung C, Tuck E, Stubbs V, van der Lee SJ, Aalfs C, van Spaendonk R, Scheltens P, Hardy J, Holstege H, Livesey FJ. SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network. Cell Reports. 35: 109259. PMID 34133918 DOI: 10.1016/j.celrep.2021.109259  0.339
2021 Jiang Y, Zhou X, Ip FC, Chan P, Chen Y, Lai NCH, Cheung K, Lo RMN, Tong EPS, Wong BWY, Chan ALT, Mok VCT, Kwok TCY, Mok KY, Hardy J, et al. Large-scale plasma proteomic profiling identifies a high-performance biomarker panel for Alzheimer's disease screening and staging. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 34032364 DOI: 10.1002/alz.12369  0.312
2021 Simone R, Javad F, Emmett W, Wilkins OG, Almeida FL, Barahona-Torres N, Zareba-Paslawska J, Ehteramyan M, Zuccotti P, Modelska A, Siva K, Virdi GS, Mitchell JS, Harley J, Kay VA, ... ... Hardy JA, et al. MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration. Nature. PMID 34012113 DOI: 10.1038/s41586-021-03556-6  0.448
2021 Samanci B, Bilgiç B, Gelişin Ö, Tepgeç F, Guven G, Tüfekçioğlu Z, Alaylıoğlu M, Hanagasi HA, Gürvit H, Guerreiro R, Hardy J, Emre M. TREM2 variants as a possible cause of frontotemporal dementia with distinct neuroimaging features. European Journal of Neurology. PMID 33969597 DOI: 10.1111/ene.14908  0.681
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  0.414
2021 Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard H, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, ... ... Hardy J, ... ... Hardy J, et al. Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology. PMID 33901317 DOI: 10.1002/ana.26090  0.712
2021 Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J, Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications. 12: 2076. PMID 33824317 DOI: 10.1038/s41467-021-22262-5  0.304
2021 Kaiyrzhanov R, Aitkulova A, Vandrovcova J, Murphy D, Zharkinbekova N, Shashkin C, Akhmetzhanov V, Kaishibayeva G, Karimova A, Myrzayev Z, Murray M, Khaibullin T, Hardy J, Houlden H. A glimpse of the genetics of young-onset Parkinson's disease in Central Asia. Molecular Genetics & Genomic Medicine. e1671. PMID 33818904 DOI: 10.1002/mgg3.1671  0.319
2021 García-Ruiz S, Gil-Martínez AL, Cisterna A, Jurado-Ruiz F, Reynolds RH, Cookson MR, Hardy J, Ryten M, Botía JA. CoExp: A Web Tool for the Exploitation of Co-expression Networks. Frontiers in Genetics. 12: 630187. PMID 33719340 DOI: 10.3389/fgene.2021.630187  0.421
2021 Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, ... Hardy JA, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics. PMID 33589841 DOI: 10.1038/s41588-021-00785-3  0.781
2021 Najar J, van der Lee SJ, Joas E, Wetterberg H, Hardy J, Guerreiro R, Bras J, Waern M, Kern S, Zetterberg H, Blennow K, Skoog I, Zettergren A. Polygenic risk scores for Alzheimer's disease are related to dementia risk in APOE ɛ4 negatives. Alzheimer's & Dementia (Amsterdam, Netherlands). 13: e12142. PMID 33532541 DOI: 10.1002/dad2.12142  0.719
2021 Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW. Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. Jama Neurology. PMID 33523105 DOI: 10.1001/jamaneurol.2020.5257  0.307
2021 Ly H, Verma N, Sharma S, Kotiya D, Despa S, Abner EL, Nelson PT, Jicha GA, Wilcock DM, Goldstein LB, Guerreiro R, Brás J, Hanson AJ, Craft S, Murray AJ, ... ... Hardy J, et al. The association of circulating amylin with β-amyloid in familial Alzheimer's disease. Alzheimer's & Dementia (New York, N. Y.). 7: e12130. PMID 33521236 DOI: 10.1002/trc2.12130  0.713
2021 Arber C, Lovejoy C, Harris L, Willumsen N, Alatza A, Casey JM, Lines G, Kerins C, Mueller AK, Zetterberg H, Hardy J, Ryan NS, Fox NC, Lashley T, Wray S. Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis. Cell Reports. 34: 108615. PMID 33440141 DOI: 10.1016/j.celrep.2020.108615  0.509
2020 Lawingco T, Chaudhury S, Brookes KJ, Guetta-Baranes T, Guerreiro R, Bras J, Hardy J, Francis P, Thomas A, Belbin O, Morgan K. Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's disease. Neurobiology of Aging. PMID 33303219 DOI: 10.1016/j.neurobiolaging.2020.11.009  0.698
2020 Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, ... ... Hardy JA, et al. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron. PMID 33242422 DOI: 10.1016/j.neuron.2020.11.005  0.566
2020 Tan MMX, Lawton MA, Jabbari E, Reynolds RH, Iwaki H, Blauwendraat C, Kanavou S, Pollard MI, Hubbard L, Malek N, Grosset KA, Marrinan SL, Bajaj N, Barker RA, Burn DJ, ... Hardy J, et al. Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33111402 DOI: 10.1002/mds.28342  0.618
2020 Shadrin AA, Mucha S, Ellinghaus D, Makarious MB, Blauwendraat C, Sreelatha AAK, Heras-Garvin A, Ding J, Hammer M, Foubert-Samier A, Meissner WG, Rascol O, Pavy-Le Traon A, Frei O, O'Connell KS, ... ... Hardy J, et al. Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33107653 DOI: 10.1002/mds.28338  0.607
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  0.544
2020 Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M, Alvarez I, Alvarez V, Andreassen O, Anfossi M, Bagnoli S, Benussi L, Bernardi L, Binetti G, Blackburn D, Boada M, ... ... Hardy J, et al. , AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts. Neurology. PMID 32943482 DOI: 10.1212/Wnl.0000000000010914  0.662
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  0.63
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  0.345
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  0.438
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  0.354
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  0.728
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  0.426
2020 Zhou X, Chen Y, Ip FCF, Lai NCH, Li YYT, Jiang Y, Zhong H, Chen Y, Zhang Y, Ma S, Lo RMN, Cheung K, Tong EPS, Ko H, Shoai M, ... ... Hardy J, et al. Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population. Alzheimer's & Dementia (Amsterdam, Netherlands). 12: e12074. PMID 32775599 DOI: 10.1002/Dad2.12074  0.326
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  0.387
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  0.344
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  0.421
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  0.336
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  0.365
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  0.378
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  0.404
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  0.411
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  0.685
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  0.862
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  0.563
2019 Arber C, Villegas-Llerena C, Toombs J, Pocock JM, Ryan NS, Fox NC, Zetterberg H, Hardy J, Wray S. Amyloid precursor protein processing in human neurons with an allelic series of the intron 4 deletion mutation and total presenilin-1 knockout. Brain Communications. 1: fcz024. PMID 32395715 DOI: 10.1093/braincomms/fcz024  0.53
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  0.361
2019 Piers TM, Cosker K, Mallach A, Johnson GT, Guerreiro R, Hardy J, Pocock JM. A locked immunometabolic switch underlies TREM2 R47H loss of function in human iPSC-derived microglia. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. PMID 31907987 DOI: 10.1096/Fj.201902447R  0.681
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  0.339
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  0.746
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  0.768
2019 Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, ... ... Hardy JA, et al. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet. Neurology. 18: 1091-1102. PMID 31701892 DOI: 10.1016/S1474-4422(19)30320-5  0.669
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  0.486
2019 Noyce AJ, Bandres-Ciga S, Kim J, Heilbron K, Kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs JR, Hinds DA, ... ... Hardy J, et al. The Parkinson's Disease Mendelian Randomization Research Portal. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 31659794 DOI: 10.1002/mds.27873  0.579
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  0.441
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  0.477
2019 Singleton A, Hardy J. Progress in the Genetic Analysis of Parkinson's Disease. Human Molecular Genetics. PMID 31518392 DOI: 10.1093/Hmg/Ddz183  0.676
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  0.379
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... Hardy J, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. PMID 31417202 DOI: 10.1038/s41588-019-0495-7  0.827
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  0.652
2019 Zhou X, Chen Y, Mok KY, Kwok TCY, Mok VCT, Guo Q, Ip FC, Chen Y, Mullapudi N, Giusti-Rodríguez P, Sullivan PF, Hardy J, Fu AKY, Li Y, et al. Non-coding variability at the APOE locus contributes to the Alzheimer's risk. Nature Communications. 10: 3310. PMID 31346172 DOI: 10.1038/s41467-019-10945-z  0.305
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  0.492
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  0.46
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  0.717
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  0.681
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  0.438
2019 Chaudhury S, Brookes KJ, Patel T, Fallows A, Guetta-Baranes T, Turton JC, Guerreiro R, Bras J, Hardy J, Francis PT, Croucher R, Holmes C, Morgan K. Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment. Translational Psychiatry. 9: 167. PMID 31186402 DOI: 10.1038/s41398-019-0503-9  0.679
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  0.716
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  0.347
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  0.334
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  0.582
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  0.646
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  0.841
2019 Guelfi S, Botia JA, Thom M, Ramasamy A, Perona M, Stanyer L, Martinian L, Trabzuni D, Smith C, Walker R, Ryten M, Reimers M, Weale ME, Hardy J, Matarin M. Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. Brain : a Journal of Neurology. PMID 30932156 DOI: 10.1093/Brain/Awz074  0.311
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  0.436
2019 Startin CM, Ashton NJ, Hamburg S, Hithersay R, Wiseman FK, Mok KY, Hardy J, Lleó A, Lovestone S, Parnetti L, Zetterberg H, Hye A, Strydom A. Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease. Alzheimer's Research & Therapy. 11: 26. PMID 30902060 DOI: 10.1186/S13195-019-0477-0  0.312
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  0.425
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  0.643
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  0.84
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  0.317
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  0.536
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  0.482
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  0.511
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  0.523
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  0.444
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  0.367
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  0.315
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  0.463
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  0.421
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  0.457
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  0.346
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  0.775
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  0.835
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  0.659
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  0.773
2018 Fu H, Hardy J, Duff KE. Selective vulnerability in neurodegenerative diseases. Nature Neuroscience. PMID 30250262 DOI: 10.1038/S41593-018-0221-2  0.529
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  0.384
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  0.351
2018 Petyuk VA, Chang R, Ramirez-Restrepo M, Beckmann ND, Henrion MYR, Piehowski PD, Zhu K, Wang S, Clarke J, Huentelman MJ, Xie F, Andreev V, Engel A, Guettoche T, Navarro L, ... ... Hardy JA, et al. The human brainome: network analysis identifies HSPA2 as a novel Alzheimer's disease target. Brain : a Journal of Neurology. PMID 30137212 DOI: 10.1093/Brain/Awy215  0.631
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  0.391
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  0.75
2018 Firth NC, Startin CM, Hithersay R, Hamburg S, Wijeratne PA, Mok KY, Hardy J, Alexander DC, Strydom A. Aging related cognitive changes associated with Alzheimer's disease in Down syndrome. Annals of Clinical and Translational Neurology. 5: 741-751. PMID 29928657 DOI: 10.1002/Acn3.571  0.3
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  0.732
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  0.482
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  0.754
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  0.691
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  0.644
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  0.697
2018 Manzoni C, Mamais A, Dihanich S, Soutar MPM, Plun-Favreau H, Bandopadhyay R, Abeti R, Giunti P, Hardy J, Cookson M, Tooze SA, Lewis PA. mTOR independent alteration in ULK1 Ser758 phosphorylation following chronic LRRK2 kinase inhibition. Bioscience Reports. PMID 29563162 DOI: 10.1042/Bsr20171669  0.481
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  0.85
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  0.778
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  0.747
2018 Rusbridge C, Salguero FJ, David MA, Faller KME, Bras JT, Guerreiro RJ, Richard-Londt AC, Grainger D, Head E, Brandner SGP, Summers B, Hardy J, Tayebi M. An Aged Canid with Behavioral Deficits Exhibits Blood and Cerebrospinal Fluid Amyloid Beta Oligomers. Frontiers in Aging Neuroscience. 10: 7. PMID 29441010 DOI: 10.3389/Fnagi.2018.00007  0.677
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  0.462
2018 Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J, Momeni P, Hess CP, Dillon WP, et al. Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. Plos Medicine. 15: e1002504. PMID 29377952 DOI: 10.1371/journal.pmed.1002504  0.594
2018 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, et al. Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 10: 4. PMID 29329552 DOI: 10.1186/S13073-018-0516-7  0.838
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  0.655
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  0.829
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  0.799
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  0.382
2018 Mok KY, Zhang D, Startin C, Strydom A, Hardy J. P2-119: Dementia Among Those With Down Syndrome: Focused Association Study On Trisomy 21 Snps Alzheimers & Dementia. 14. DOI: 10.1016/J.Jalz.2018.06.805  0.335
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  0.801
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  0.403
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  0.451
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  0.718
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  0.39
2017 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, et al. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 9: 100. PMID 29183403 DOI: 10.1186/S13073-017-0486-1  0.836
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  0.833
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  0.824
2017 Lane CA, Hardy J, Schott JM. Alzheimer's disease. European Journal of Neurology. PMID 28872215 DOI: 10.1111/ene.13439  0.309
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  0.664
2017 Arber C, Angelova PR, Wiethoff S, Tsuchiya Y, Mazzacuva F, Preza E, Bhatia KP, Mills K, Gout I, Abramov AY, Hardy J, Duce JA, Houlden H, Wray S. iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. Plos One. 12: e0184104. PMID 28863176 DOI: 10.1371/Journal.Pone.0184104  0.488
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  0.361
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  0.411
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  0.655
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  0.813
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  0.837
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  0.598
2017 Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, ... ... Hardy JA, et al. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging. PMID 28602509 DOI: 10.1016/J.Neurobiolaging.2017.05.009  0.802
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  0.652
2017 Bartolome F, Esteras N, Martin-Requero A, Boutoleau-Bretonniere C, Vercelletto M, Gabelle A, Le Ber I, Honda T, Dinkova-Kostova AT, Hardy J, Carro E, Abramov AY. Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates. Scientific Reports. 7: 1666. PMID 28490746 DOI: 10.1038/S41598-017-01678-4  0.306
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  0.358
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  0.453
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  0.388
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  0.36
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  0.393
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  0.478
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  0.39
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  0.693
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  0.743
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  0.511
2017 Singleton AB, Hardy JA, Gasser T. The Birth of the Modern Era of Parkinson's Disease Genetics. Journal of Parkinson's Disease. 7: S89-S95. PMID 28282818 DOI: 10.3233/JPD-179009  0.612
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  0.805
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  0.569
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  0.387
2017 Ferrari R, Grassi M, Graziano F, Palluzzi F, Archetti S, Bonomi E, Bruni AC, Maletta RG, Bernardi L, Cupidi C, Colao R, Rainero I, Rubino E, Pinessi L, Galimberti D, ... Hardy J, et al. Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. Journal of Alzheimer's Disease : Jad. PMID 28128768 DOI: 10.3233/Jad-160949  0.619
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  0.718
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  0.359
2017 Soreq L, Rose J, Soreq E, Hardy J, Trabzuni D, Cookson MR, Smith C, Ryten M, Patani R, Ule J. Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging. Cell Reports. 18: 557-570. PMID 28076797 DOI: 10.1016/J.Celrep.2016.12.011  0.523
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  0.468
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  0.315
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  0.332
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  0.778
2017 Hardy J. Immune System Genetics In Alzheimer'S Disease Alzheimers & Dementia. 13: 1448. DOI: 10.1016/J.Jalz.2017.07.487  0.43
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  0.415
2017 Toombs J, Arber C, Ryan NS, Heslegrave AJ, Hardy J, Strooper BD, Fox NC, Wray S, Zetterberg H. DISTINCT Aβ PRODUCTION IN STEM CELL-DERIVED CORTICAL NEURONS FROM PATIENTS WITH FAD MUTATION Alzheimers & Dementia. 13. DOI: 10.1016/J.Jalz.2017.06.247  0.494
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  0.395
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  0.718
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  0.763
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  0.423
2017 Arber C, James Lovejoy CE, Ryan NS, Toombs J, Willumsen N, Fox NC, Hardy J, Wray S. PROBING DEVELOPMENTAL CONSEQUENCES OF PSEN1 MUTATIONS IN IPSC DIFFERENTIATION IN 2D AND 3D Alzheimer's & Dementia. 13: P242. DOI: 10.1016/J.Jalz.2017.06.092  0.467
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  0.554
2016 Gagliano SA, Pouget JG, Hardy J, Knight J, Barnes MR, Ryten M, Weale ME. Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases. Annals of Clinical and Translational Neurology. 3: 924-933. PMID 28097204 DOI: 10.1002/Acn3.369  0.331
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  0.521
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  0.395
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  0.715
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  0.652
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  0.342
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  0.818
2016 Manzoni C, Mamais A, Roosen DA, Dihanich S, Soutar MP, Plun-Favreau H, Bandopadhyay R, Hardy J, Tooze SA, Cookson MR, Lewis PA. mTOR independent regulation of macroautophagy by Leucine Rich Repeat Kinase 2 via Beclin-1. Scientific Reports. 6: 35106. PMID 27731364 DOI: 10.1038/Srep35106  0.5
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  0.715
2016 Futerman AH, Hardy J. Perspective: Finding common ground. Nature. 537: S160-1. PMID 27652785 DOI: 10.1038/537S160A  0.365
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  0.798
2016 Sailer A, Scholz SW, Nalls MA, Schulte C, Federoff M, Price TR, Lees A, Ross OA, Dickson DW, Mok K, Mencacci NE, Schottlaender L, Chelban V, Ling H, O'Sullivan SS, ... ... Hardy JA, et al. A genome-wide association study in multiple system atrophy. Neurology. PMID 27629089 DOI: 10.1212/Wnl.0000000000003221  0.565
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  0.429
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  0.392
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  0.419
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  0.831
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  0.38
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  0.363
2016 Geiger JT, Ding J, Crain B, Pletnikova O, Letson C, Dawson TM, Rosenthal LS, Pantelyat A, Gibbs JR, Albert MS, Hernandez DG, Hillis AE, Stone DJ, Singleton AB, ... Hardy JA, et al. Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiology of Disease. PMID 27312774 DOI: 10.1016/J.Nbd.2016.06.004  0.651
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  0.655
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  0.395
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  0.553
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  0.842
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  0.841
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  0.413
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  0.681
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  0.364
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  0.31
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  0.39
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  0.63
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  0.392
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  0.625
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  0.641
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  0.436
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  0.379
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  0.422
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  0.439
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  0.4
2016 Hardy J, Villemagne V, Devous M, Hutton M. Disentangling the interaction between amyloid and tau: where are we now? Neurobiology of Aging. 39. DOI: 10.1016/J.Neurobiolaging.2016.01.096  0.497
2016 Hardy J. Pathways to Alzheimer's disease and other neurodegenerative diseases Neurobiology of Aging. 39. DOI: 10.1016/J.Neurobiolaging.2016.01.064  0.437
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  0.444
2016 Shoai M, Radhakrishnan L, Pither R, Scopes G, Escott-Price V, Laws SM, Davis J, Hampel H, Vandenberghe R, Bloor C, Hardy J. Evaluation Of A Novel Array Of Snp (Single Nucleotide Polymorphism) Markers In Amyloid-Pet Stratified Samples From Mci And Cognitively Normal Individuals Alzheimers & Dementia. 12. DOI: 10.1016/J.Jalz.2016.06.2217  0.301
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  0.401
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  0.797
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  0.827
2015 Hardy J. The mouse that trolled. Journal of Law and the Biosciences. 2: 722. PMID 27774222 DOI: 10.1093/Jlb/Lsv035  0.406
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  0.79
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  0.311
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  0.841
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  0.435
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  0.372
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  0.39
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  0.485
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  0.763
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  0.385
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  0.398
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  0.404
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  0.618
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  0.617
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  0.407
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  0.642
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  0.482
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  0.331
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  0.68
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  0.566
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  0.585
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  0.443
2015 Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M. CHCHD2 and Parkinson's disease. The Lancet. Neurology. 14: 678-9. PMID 26067110 DOI: 10.1016/S1474-4422(15)00094-0  0.596
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  0.313
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  0.364
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  0.344
2015 Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Jama Neurology. 72: 781-8. PMID 25961151 DOI: 10.1001/Jamaneurol.2015.0582  0.584
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  0.418
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  0.454
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  0.374
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  0.826
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  0.64
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  0.726
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  0.729
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  0.707
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  0.761
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  0.729
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  0.741
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  0.338
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  0.695
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  0.332
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  0.703
2015 Smethurst P, Sidle KC, Hardy J. Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS). Neuropathology and Applied Neurobiology. 41: 578-97. PMID 25487060 DOI: 10.1111/Nan.12206  0.313
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  0.803
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  0.426
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  0.548
2015 Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. Journal of Alzheimer's Disease : Jad. 43: 625-30. PMID 25114083 DOI: 10.3233/Jad-141512  0.728
2015 Gurvit H, Bilgic B, Hanagasi H, Guven G, Guerreiro R, Hardy J. PSEN1 mutation presenting as posterior cortical atrophy Journal of the Neurological Sciences. 357. DOI: 10.1016/J.Jns.2015.08.409  0.679
2015 Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Lehmann M, Taner N, Graff-Radford N, Boeve B, Murray ME, Qurat ul Ain K, Petersen RC, Dickson DW, Knopman DS, ... ... Hardy J, et al. F2-03-04: Genetic risk factors for posterior cortical atrophy Alzheimer's & Dementia. 11: P168-P169. DOI: 10.1016/J.Jalz.2015.07.119  0.478
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  0.335
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  0.33
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  0.723
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  0.331
2014 Ramasamy A, Trabzuni D, Forabosco P, Smith C, Walker R, Dillman A, Sveinbjornsdottir S, Hardy J, Weale ME, Ryten M. Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme CYP24A1 in multiple sclerosis. Multiple Sclerosis and Related Disorders. 3: 211-219. PMID 25568836 DOI: 10.1016/J.Msard.2013.08.009  0.313
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  0.41
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  0.825
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  0.686
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  0.702
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  0.767
2014 Erro R, Bhatia KP, Hardy J. GNAL mutations and dystonia. Jama Neurology. 71: 1052-3. PMID 25111208 DOI: 10.1001/Jamaneurol.2014.1506  0.304
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  0.831
2014 Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, ... ... Hardy JA, et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics. 46: 989-93. PMID 25064009 DOI: 10.1038/Ng.3043  0.686
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  0.621
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  0.665
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  0.453
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  0.845
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  0.784
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  0.831
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  0.447
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  0.844
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  0.826
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  0.339
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  0.416
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  0.399
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  0.426
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  0.795
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  0.486
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  0.311
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  0.699
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  0.33
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  0.322
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  0.322
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  0.453
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  0.443
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  0.446
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  0.846
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  0.332
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  0.841
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  0.395
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  0.399
2014 Mok KY, Schneider SA, Trabzuni D, Stamelou M, Edwards M, Kasperaviciute D, Pickering-Brown S, Silverdale M, Hardy J, Bhatia KP. Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel. Movement Disorders : Official Journal of the Movement Disorder Society. 29: 245-51. PMID 24227479 DOI: 10.1002/Mds.25732  0.343
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  0.632
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  0.769
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  0.466
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  0.724
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  0.576
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  0.352
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  0.388
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  0.785
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  0.833
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  0.364
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  0.325
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  0.406
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  0.703
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  0.842
2013 Guerreiro R, Hardy J. TREM2 and neurodegenerative disease. The New England Journal of Medicine. 369: 1569-70. PMID 24143816 DOI: 10.1056/Nejmc1306509  0.722
2013 Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, ... Hardy J, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. Jama Neurology. 70: 1403-10. PMID 24042580 DOI: 10.1001/Jamaneurol.2013.3849  0.72
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  0.643
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  0.345
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  0.588
2013 Mann DM, Hardy J. Amyloid or tau: the chicken or the egg? Acta Neuropathologica. 126: 609-13. PMID 23925566 DOI: 10.1007/S00401-013-1162-1  0.305
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  0.817
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  0.652
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  0.732
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  0.402
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  0.411
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  0.704
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  0.399
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  0.355
2013 Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J. α-Synuclein mutations cluster around a putative protein loop. Neuroscience Letters. 546: 67-70. PMID 23669636 DOI: 10.1016/J.Neulet.2013.04.058  0.312
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  0.416
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  0.399
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  0.732
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  0.588
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  0.343
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  0.658
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  0.439
2013 Khan TA, Shah T, Prieto D, Zhang W, Price J, Fowkes GR, Cooper J, Talmud PJ, Humphries SE, Sundstrom J, Hubacek JA, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Abdollahi MR, ... ... Hardy J, et al. Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. International Journal of Epidemiology. 42: 475-92. PMID 23569189 DOI: 10.1093/Ije/Dyt034  0.579
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  0.523
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  0.396
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  0.337
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  0.394
2013 Lashley T, Hardy J, Isaacs AM. RANTing about C9orf72. Neuron. 77: 597-8. PMID 23439112 DOI: 10.1016/J.Neuron.2013.02.009  0.653
2013 Ramasamy A, Trabzuni D, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Walker R, Smith C, Ilori GP, Shabalin AA, Li Y, Singleton AB, Cookson MR, Hardy J, et al. Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Research. 41: e88. PMID 23435227 DOI: 10.1093/Nar/Gkt069  0.676
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  0.747
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  0.371
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  0.706
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  0.455
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  0.458
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  0.838
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  0.807
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  0.428
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  0.787
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  0.681
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  0.853
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  0.361
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  0.642
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  0.635
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  0.705
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  0.397
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  0.441
2013 Hardy J. Genetic analysis of neurodegeneration.. the end game. Molecular Neurodegeneration. 8: 1-1. DOI: 10.1186/1750-1326-8-S1-O12  0.471
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  0.399
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  0.787
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  0.832
2013 Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, ... ... Hardy J, et al. Erratum: Genome-wide association study of obsessive-compulsive disorder Molecular Psychiatry. 18: 843-843. DOI: 10.1038/Mp.2013.15  0.643
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  0.729
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  0.35
2013 Wray S, Preza E, Rollinson S, Ryten M, Isaacs A, Houlden H, Rossor M, Chio A, Morris H, Pickering-Brown S, Hardy J, Livesey R, Kunath T. O1-01-06: Human stem cell models of frontotemporal dementia caused by a non-coding hexanucleotide repeat expansion in C9ORF72 Alzheimer's & Dementia. 9: P127-P127. DOI: 10.1016/J.Jalz.2013.04.054  0.475
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  0.432
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  0.405
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  0.707
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  0.376
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  0.492
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  0.358
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  0.403
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  0.55
2012 Hernandez DG, Nalls MA, Ylikotila P, Keller M, Hardy JA, Majamaa K, Singleton AB. Genome wide assessment of young onset Parkinson's disease from Finland. Plos One. 7: e41859. PMID 22911860 DOI: 10.1371/Journal.Pone.0041859  0.648
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  0.375
2012 Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón-Sánchez J, Mittag F, Büchel F, Sharma M, Gibbs JR, Schulte C, Moskvina V, Durr A, Holmans P, Kilarski LL, ... ... Hardy J, et al. Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Human Molecular Genetics. 21: 4996-5009. PMID 22892372 DOI: 10.1093/Hmg/Dds335  0.777
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  0.758
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  0.391
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  0.647
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  0.407
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  0.762
2012 Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, ... ... Hardy J, et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 79: 221-8. PMID 22722634 DOI: 10.1212/Wnl.0B013E3182605801  0.804
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  0.739
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  0.318
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  0.65
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  0.455
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  0.44
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  0.497
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  0.44
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  0.365
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  0.429
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  0.377
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  0.428
2012 Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, ... ... Hardy JA, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. Plos Genetics. 8: e1002548. PMID 22438815 DOI: 10.1371/Journal.Pgen.1002548  0.69
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  0.702
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  0.691
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  0.405
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  0.387
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  0.582
2012 Matsuki T, Zaka M, Guerreiro R, van der Brug MP, Cooper JA, Cookson MR, Hardy JA, Howell BW. Identification of Stk25 as a genetic modifier of Tau phosphorylation in Dab1-mutant mice. Plos One. 7: e31152. PMID 22355340 DOI: 10.1371/Journal.Pone.0031152  0.752
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  0.363
2012 Keenan BT, Shulman JM, Chibnik LB, Raj T, Tran D, Sabuncu MR, Allen AN, Corneveaux JJ, Hardy JA, Huentelman MJ, Lemere CA, Myers AJ, Nicholson-Weller A, Reiman EM, et al. A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline. Human Molecular Genetics. 21: 2377-88. PMID 22343410 DOI: 10.1093/Hmg/Dds054  0.591
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  0.378
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  0.769
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  0.701
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  0.693
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  0.498
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  0.56
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  0.393
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  0.862
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  0.412
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  0.797
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  0.811
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  0.804
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  0.415
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  0.768
2012 Devine MJ, Kaganovich A, Ryten M, Mamais A, Trabzuni D, Manzoni C, McGoldrick P, Chan D, Dillman A, Zerle J, Horan S, Taanman J, Hardy J, Marti-Masso J, Healy D, et al. Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue Plos One. 7. DOI: 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5  0.467
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  0.394
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  0.563
2012 Noyce A, Bestwick J, Hawkes CH, Knowles CH, Hardy J, Lees AJ, Silveira-Moriyama L, Giovannoni G, Schrag A. 120 An algorithm to identify individuals at high-risk of Parkinson's disease in the community Journal of Neurology, Neurosurgery, and Psychiatry. 83. DOI: 10.1136/Jnnp-2011-301993.162  0.306
2012 Swaminathan S, Huentelman M, Corneveaux J, Myers A, Faber K, Foroud T, Mayeux R, Shen L, Kim S, Turk M, Hardy J, Reiman E, Saykin A. Replication and meta-analysis of the CHRFAM7A copy number variant in a cohort of clinically characterized and neuropathologically verified individuals Alzheimers & Dementia. 8: 678. DOI: 10.1016/J.Jalz.2012.05.101  0.6
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  0.548
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  0.711
2011 Meschia JF, Singleton A, Nalls MA, Rich SS, Sharma P, Ferrucci L, Matarin M, Hernandez DG, Pearce K, Brott TG, Brown RD, Hardy J, Worrall BB. Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. Plos One. 6: e23161. PMID 21957438 DOI: 10.1371/Journal.Pone.0023161  0.596
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  0.823
2011 Meschia JF, Nalls M, Matarin M, Brott TG, Brown RD, Hardy J, Kissela B, Rich SS, Singleton A, Hernandez D, Ferrucci L, Pearce K, Keller M, Worrall BB. Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke; a Journal of Cerebral Circulation. 42: 2726-32. PMID 21940970 DOI: 10.1161/Strokeaha.111.620484  0.557
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  0.72
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  0.452
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  0.692
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  0.671
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  0.378
2011 Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, ... Hardy J, et al. No evidence that extended tracts of homozygosity are associated with Alzheimer's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 156: 764-71. PMID 21812096 DOI: 10.1002/Ajmg.B.31216  0.654
2011 Holmes MV, Newcombe P, Hubacek JA, Sofat R, Ricketts SL, Cooper J, Breteler MM, Bautista LE, Sharma P, Whittaker JC, Smeeth L, Fowkes FG, Algra A, Shmeleva V, Szolnoki Z, ... ... Hardy J, et al. Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet. 378: 584-94. PMID 21803414 DOI: 10.1016/S0140-6736(11)60872-6  0.568
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  0.58
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  0.753
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  0.836
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  0.427
2011 Gwinn K, Devine MJ, Jin LW, Johnson J, Bird T, Muenter M, Waters C, Adler CH, Caselli R, Houlden H, Lopez G, Singleton A, Hardy J, Singleton A. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred). Movement Disorders : Official Journal of the Movement Disorder Society. 26: 2134-6. PMID 21656851 DOI: 10.1002/Mds.23776  0.577
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  0.677
2011 Gasser T, Hardy J, Mizuno Y. Milestones in PD genetics. Movement Disorders. 26: 1042-1048. PMID 21626549 DOI: 10.1002/Mds.23637  0.515
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  0.445
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  0.613
2011 Hardy J, Low NC. Genes and environment in psychiatry: winner's curse or cure? Archives of General Psychiatry. 68: 455-6. PMID 21536973 DOI: 10.1001/Archgenpsychiatry.2011.35  0.308
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  0.726
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, ... ... Hardy J, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/Ng.801  0.782
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  0.804
2011 Chibnik LB, Shulman JM, Leurgans SE, Schneider JA, Wilson RS, Tran D, Aubin C, Buchman AS, Heward CB, Myers AJ, Hardy JA, Huentelman MJ, Corneveaux JJ, Reiman EM, Evans DA, et al. CR1 is associated with amyloid plaque burden and age-related cognitive decline. Annals of Neurology. 69: 560-9. PMID 21391232 DOI: 10.1002/Ana.22277  0.615
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  0.674
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  0.413
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  0.374
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  0.579
2011 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Hardy J, et al. Correction: Genetic Evidence Implicates the Immune System and Cholesterol Metabolism in the Aetiology of Alzheimer's Disease Plos One. 6. DOI: 10.1371/annotation/a0bb886d-d345-4a20-a82e-adce9b047798  0.817
2011 Keenan B, Shulman J, Chibnik L, Corneveaux J, Allen A, Myers A, Hardy J, Huentelman M, Reiman E, Evans D, Bennett D, Jager PD. A candidate causal variant in the CR1 locus Alzheimers & Dementia. 7. DOI: 10.1016/J.Jalz.2011.05.2389  0.581
2010 Webster J, Reiman EM, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, ... ... Hardy J, et al. Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. International Journal of Molecular Epidemiology and Genetics. 1: 19-30. PMID 21537449  0.82
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  0.321
2010 Matsuki T, Matthews RT, Cooper JA, van der Brug MP, Cookson MR, Hardy JA, Olson EC, Howell BW. Reelin and stk25 have opposing roles in neuronal polarization and dendritic Golgi deployment. Cell. 143: 826-36. PMID 21111240 DOI: 10.1016/J.Cell.2010.10.029  0.392
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  0.821
2010 Hardy J. Genetic Analysis of Pathways to Parkinson Disease Neuron. 68: 201-206. PMID 20955928 DOI: 10.1016/J.Neuron.2010.10.014  0.443
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  0.439
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  0.431
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  0.671
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  0.372
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  0.436
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  0.659
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  0.659
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  0.478
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  0.422
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  0.411
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  0.453
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  0.346
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  0.77
2010 van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series. Movement Disorders : Official Journal of the Movement Disorder Society. 25: 771-3. PMID 20437544 DOI: 10.1002/Mds.22970  0.608
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  0.399
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  0.609
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  0.387
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  0.84
2010 Wang C, Szpiech ZA, Degnan JH, Jakobsson M, Pemberton TJ, Hardy JA, Singleton AB, Rosenberg NA. Comparing spatial maps of human population-genetic variation using Procrustes analysis. Statistical Applications in Genetics and Molecular Biology. 9: Article 13. PMID 20196748 DOI: 10.2202/1544-6115.1493  0.526
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  0.596
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  0.601
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  0.333
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