| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease JC Lambert, CA Ibrahim-Verbaas, D Harold, AC Naj, R Sims, ... Nature genetics 45 (12), 1452-1458, 2013 | 4593 | 2013 |
| Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism V Bonifati, P Rizzu, MJ Van Baren, O Schaap, GJ Breedveld, E Krieger, ... Science 299 (5604), 256-259, 2003 | 3529 | 2003 |
| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3295 | 1996 |
| Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease JC Lambert, S Heath, G Even, D Campion, K Sleegers, M Hiltunen, ... Nature genetics 41 (10), 1094-1099, 2009 | 2859 | 2009 |
| Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2472 | 2019 |
| Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease E Sidransky, MA Nalls, JO Aasly, J Aharon-Peretz, G Annesi, ER Barbosa, ... New England Journal of Medicine 361 (17), 1651-1661, 2009 | 2352 | 2009 |
| Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism S Jamain, H Quach, C Betancur, M Råstam, C Colineaux, IC Gillberg, ... Nature genetics 34 (1), 27-29, 2003 | 2254 | 2003 |
| Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease P Hollingworth, D Harold, R Sims, A Gerrish, JC Lambert, ... Nature genetics 43 (5), 429-435, 2011 | 2247 | 2011 |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease MA Nalls, N Pankratz, CM Lill, CB Do, DG Hernandez, M Saad, ... Nature genetics 46 (9), 989-993, 2014 | 2066 | 2014 |
| Association between early-onset Parkinson's disease and mutations in the parkin gene CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ... New England Journal of Medicine 342 (21), 1560-1567, 2000 | 1940 | 2000 |
| Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ... The Lancet Neurology 18 (12), 1091-1102, 2019 | 1837 | 2019 |
| Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study DG Healy, M Falchi, SS O'Sullivan, V Bonifati, A Durr, S Bressman, ... The Lancet Neurology 7 (7), 583-590, 2008 | 1723 | 2008 |
| APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy A Rovelet-Lecrux, D Hannequin, G Raux, NL Meur, A Laquerrière, A Vital, ... Nature genetics 38 (1), 24-26, 2006 | 1573 | 2006 |
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1376 | 2012 |
| Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease P Ibanez, AM Bonnet, B Debarges, E Lohmann, F Tison, Y Agid, A Dürr, ... The Lancet 364 (9440), 1169-1171, 2004 | 1363 | 2004 |
| Parkinson's disease: from monogenic forms to genetic susceptibility factors S Lesage, A Brice Human molecular genetics 18 (R1), R48-R59, 2009 | 1315 | 2009 |
| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2 A Escayg, BT MacDonald, MH Meisler, S Baulac, G Huberfeld, ... Nature genetics 24 (4), 343-345, 2000 | 1299 | 2000 |
| Clinical and genetic abnormalities in patients with Friedreich's ataxia A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, JL Mandel, ... New England Journal of Medicine 335 (16), 1169-1175, 1996 | 1264 | 1996 |
| Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum D Campion, C Dumanchin, D Hannequin, B Dubois, S Belliard, M Puel, ... The American Journal of Human Genetics 65 (3), 664-670, 1999 | 1141 | 1999 |
| First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene S Baulac, G Huberfeld, I Gourfinkel-An, G Mitropoulou, A Beranger, ... Nature genetics 28 (1), 46-48, 2001 | 1067 | 2001 |
