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Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA; Alzheimer's Disease Genetics Consortium; Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH. Coppola G, et al. Among authors: geschwind dh, geschwind md. Hum Mol Genet. 2012 Aug 1;21(15):3500-12. doi: 10.1093/hmg/dds161. Epub 2012 May 3. Hum Mol Genet. 2012. PMID: 22556362 Free PMC article.
Commentary.
Wilhelmsen KC, Miller B, Geschwind D. Wilhelmsen KC, et al. Neurobiol Aging. 2001 Jan-Feb;22(1):119-21. doi: 10.1016/s0197-4580(00)00198-6. Neurobiol Aging. 2001. PMID: 11164284 No abstract available.
Evidence for sex-specific risk alleles in autism spectrum disorder.
Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Stone JL, et al. Among authors: geschwind dh. Am J Hum Genet. 2004 Dec;75(6):1117-23. doi: 10.1086/426034. Epub 2004 Oct 5. Am J Hum Genet. 2004. PMID: 15467983 Free PMC article.
Replication of autism linkage: fine-mapping peak at 17q21.
Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH. Cantor RM, et al. Among authors: geschwind dh. Am J Hum Genet. 2005 Jun;76(6):1050-6. doi: 10.1086/430278. Epub 2005 Apr 1. Am J Hum Genet. 2005. PMID: 15877280 Free PMC article.
587 results