Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

McGoldrick, P; Zhang, M; van Blitterswijk, M; Sato, C; Moreno, D; Xiao, SX; Zhang, AB; McKeever, PM; Weichert, A; Schneider, R; Keith, J; Petrucelli, L; Rademakers, R; Zinman, L; Robertson, J; Rogaeva, E

Robertson, J; Rogaeva, E (reprint author), Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada.; Rogaeva, E (reprint author), Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada.; Robertson, J (reprint author), Univ Toronto, Dept Lab Me

NEUROLOGY, 2018; 90 (4): E323

Abstract

ObjectiveSuggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsuf......

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