Article
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
Neurology - 8 Oct 2013
van Blitterswijk Marka, Baker Matthew C, DeJesus-Hernandez Mariely, Ghidoni Roberta, Benussi Luisa, Finger Elizabeth, Hsiung Ging-Yuek R, Kelley Brendan J, Murray Melissa E, Rutherford Nicola J, Brown Patricia E, Ravenscroft Thomas, Mullen Bianca, Ash Peter E A, Bieniek Kevin F, Hatanpaa Kimmo J, Karydas Anna, Wood Elisabeth McCarty, Coppola Giovanni, Bigio Eileen H, Lippa Carol, Strong Michael J, Beach Thomas G, Knopman David S, Huey Edward D, Mesulam Marsel, Bird Thomas, White Charles L, Kertesz Andrew, Geschwind Dan H, Van Deerlin Vivianna M, Petersen Ronald C, Binetti Giuliano, Miller Bruce L, Petrucelli Leonard, Wszolek Zbigniew K, Boylan Kevin B, Graff-Radford Neill R, Mackenzie Ian R, Boeve Bradley F, Dickson Dennis W, Rademakers Rosa
Abstract excerpt
OBJECTIVE: To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry mutations in genes known to be associated with a spectrum of neurodegenerative diseases. METHODS: A 2-step protocol,...
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