| Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease R Sherrington, EI Rogaev, Y Liang, EA Rogaeva, G Levesque, M Ikeda, ... Nature 375 (6534), 754-760, 1995 | 4862 | 1995 |
| A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 3495 | 2011 |
| 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 | 2879 | 2013 |
| Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene EI Rogaev, R Sherrington, EA Rogaeva, G Levesque, M Ikeda, Y Liang, ... Nature 376 (6543), 775-778, 1995 | 2392 | 1995 |
| TREM2 variants in Alzheimer's disease R Guerreiro, A Wojtas, J Bras, M Carrasquillo, E Rogaeva, E Majounie, ... New England Journal of Medicine 368 (2), 117-127, 2013 | 1975 | 2013 |
| Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease AC Naj, G Jun, GW Beecham, LS Wang, BN Vardarajan, J Buros, ... Nature genetics 43 (5), 436-441, 2011 | 1659 | 2011 |
| 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 | 1541 | 2009 |
| The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease E Rogaeva, Y Meng, JH Lee, Y Gu, T Kawarai, F Zou, T Katayama, ... Nature genetics 39 (2), 168-177, 2007 | 1179 | 2007 |
| Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing G Yu, M Nishimura, S Arawaka, D Levitan, L Zhang, A Tandon, YQ Song, ... Nature 407 (6800), 48-54, 2000 | 1170 | 2000 |
| Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia I Chumakov, M Blumenfeld, O Guerassimenko, L Cavarec, M Palicio, ... Proceedings of the National Academy of Sciences 99 (21), 13675-13680, 2002 | 1019 | 2002 |
| Analysis of shared heritability in common disorders of the brain V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ... Science 360 (6395), 2018 | 663 | 2018 |
| 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 | 637 | 2019 |
| Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14 PH St George-Hyslop, JL Haines, EI Rogaev, M Mortilla, G Vaula, ... Nature genetics 2 (4), 330-334, 1992 | 587 | 1992 |
| Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ... Nature genetics 49 (9), 1373-1384, 2017 | 474 | 2017 |
| Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 404 | 2014 |
| Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes G Jun, AC Naj, GW Beecham, LS Wang, J Buros, PJ Gallins, JD Buxbaum, ... Archives of neurology 67 (12), 1473-1484, 2010 | 395 | 2010 |
| Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations A Petit, T Kawarai, E Paitel, N Sanjo, M Maj, M Scheid, F Chen, Y Gu, ... Journal of Biological Chemistry 280 (40), 34025-34032, 2005 | 378 | 2005 |
| Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ... Nature neuroscience 17 (5), 664-666, 2014 | 368 | 2014 |
| TMP21 is a presenilin complex component that modulates γ-secretase but not ɛ-secretase activity F Chen, H Hasegawa, G Schmitt-Ulms, T Kawarai, C Bohm, T Katayama, ... Nature 440 (7088), 1208-1212, 2006 | 364 | 2006 |
| Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant R Sherrington, S Froelich, S Sorbi, D Campion, H Chi, EA Rogaeva, ... Human molecular genetics 5 (7), 985-988, 1996 | 339 | 1996 |
