Articles with "mosaic c9orf72" as a keyword



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Unaffected mosaic C9orf72 case

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Published in 2018 at "Neurology"

DOI: 10.1212/wnl.0000000000004865

Abstract: Objective Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small… read more here.

Keywords: rna foci; pathology; c9orf72 case; c9orf72 ... See more keywords