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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: miller bl. Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027057 Free PMC article.
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Clark LN, et al. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13103-7. doi: 10.1073/pnas.95.22.13103. Proc Natl Acad Sci U S A. 1998. PMID: 9789048 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.
1,542 results