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Article

The Enigmatic Role of C9ORF72 in Autophagy

3 Aug 2017

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the loss of motor neurons resulting in a progressive and irreversible muscular paralysis. Advances in large-scale genetics and genomics have revealed intronic hexanucleotide repeat expansions in the gene encoding C9ORF72 as a main genetic cause of ALS and frontotemporal dementia (FTD), the second most common cause of...

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PMID: 28824365
DOI: 10.3389/fnins.2017.00442

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