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Article

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?

Current opinion in neurology - 1 Oct 2014

Mizielinska Sarah, Isaacs Adrian M

Abstract excerpt

PURPOSE OF REVIEW: 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 mechanisms have been postulated - gain or loss of function. We provide an overview of recent advances that support or oppose gain-of-function and loss-of-function mechanisms. RECENT FINDINGS: Since...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25188012
DOI: 10.1097/WCO.0000000000000130
PMCID: PMC4165481

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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