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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: van deerlin vm. 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.
Frontotemporal dementia: genetics and genetic counseling dilemmas.
Goldman JS, Farmer JM, Van Deerlin VM, Wilhelmsen KC, Miller BL, Grossman M. Goldman JS, et al. Among authors: van deerlin vm. Neurologist. 2004 Sep;10(5):227-34. doi: 10.1097/01.nrl.0000138735.48533.26. Neurologist. 2004. PMID: 15335440 Review.
Cerebrospinal fluid profile in frontotemporal dementia and Alzheimer's disease.
Grossman M, Farmer J, Leight S, Work M, Moore P, Van Deerlin V, Pratico D, Clark CM, Coslett HB, Chatterjee A, Gee J, Trojanowski JQ, Lee VM. Grossman M, et al. Among authors: van deerlin v. Ann Neurol. 2005 May;57(5):721-9. doi: 10.1002/ana.20477. Ann Neurol. 2005. PMID: 15852395
Presenilin 1 Glu318Gly polymorphism: interpret with caution.
Goldman JS, Johnson JK, McElligott K, Suchowersky O, Miller BL, Van Deerlin VM. Goldman JS, et al. Among authors: van deerlin vm. Arch Neurol. 2005 Oct;62(10):1624-7. doi: 10.1001/archneur.62.10.1624. Arch Neurol. 2005. PMID: 16216949
Frontotemporal dementia: clinicopathological correlations.
Forman MS, Farmer J, Johnson JK, Clark CM, Arnold SE, Coslett HB, Chatterjee A, Hurtig HI, Karlawish JH, Rosen HJ, Van Deerlin V, Lee VM, Miller BL, Trojanowski JQ, Grossman M. Forman MS, et al. Among authors: van deerlin v. Ann Neurol. 2006 Jun;59(6):952-62. doi: 10.1002/ana.20873. Ann Neurol. 2006. PMID: 16718704 Free PMC article.
314 results