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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams… See abstract for full author list ➔ Holstege H, et al. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.
St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D, et al. St George-Hyslop P, et al. Nat Genet. 1992 Dec;2(4):330-4. doi: 10.1038/ng1292-330. Nat Genet. 1992. PMID: 1303289 Free article.
No association between alpha 1-antichymotrypsin and familial Alzheimer's disease.
Haines JL, Pritchard ML, Saunders AM, Schildkraut JM, Growdon JH, Gaskell PC, Farrer LA, Auerbach SA, Gusella JF, Locke PA, Rosi BL, Yamaoka L, Small GW, Conneally PM, Roses AD, Pericak-Vance M. Haines JL, et al. Ann N Y Acad Sci. 1996 Dec 16;802:35-41. doi: 10.1111/j.1749-6632.1996.tb32596.x. Ann N Y Acad Sci. 1996. PMID: 8993482
Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis.
Schmidt S, Barcellos LF, DeSombre K, Rimmler JB, Lincoln RR, Bucher P, Saunders AM, Lai E, Martin ER, Vance JM, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines JL; Multiple Sclerosis Genetics Group. Schmidt S, et al. Am J Hum Genet. 2002 Mar;70(3):708-17. doi: 10.1086/339269. Epub 2002 Feb 11. Am J Hum Genet. 2002. PMID: 11836653 Free PMC article.
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.
Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M. Schmidt S, et al. Ophthalmic Genet. 2002 Dec;23(4):209-23. doi: 10.1076/opge.23.4.209.13883. Ophthalmic Genet. 2002. PMID: 12567264
Osteopontin polymorphisms and disease course in multiple sclerosis.
Caillier S, Barcellos LF, Baranzini SE, Swerdlin A, Lincoln RR, Steinman L, Martin E, Haines JL, Pericak-Vance M, Hauser SL, Oksenberg JR; Multiple Sclerosis Genetics Group. Caillier S, et al. Genes Immun. 2003 Jun;4(4):312-5. doi: 10.1038/sj.gene.6363952. Genes Immun. 2003. PMID: 12761568
The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease.
Oliveira SA, Martin ER, Scott WK, Nicodemus KK, Small GW, Schmechel DE, Doraiswamy PM, Roses AD, Saunders AM, Gilbert JR, Haines JL, Vance JM, Pericak-Vance MA. Oliveira SA, et al. Neurosci Lett. 2003 Aug 28;347(3):143-6. doi: 10.1016/s0304-3940(03)00670-0. Neurosci Lett. 2003. PMID: 12875906
699 results