C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia
作者： Sarah Mizielinska , Adrian M. Isaacs
DOI: 10.1097/WCO.0000000000000130
关键词:
摘要: The molecular mechanisms that underlie chromosome 9 open reading frame 72 (C9orf72)-associated amyotrophic lateral sclerosis and frontotemporal dementia are rapidly emerging. Two potential disease have been postulated - gain or loss of function. We provide an overview recent advances support oppose gain-of-function loss-of-function mechanisms.
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