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Article

Cortical Function in Asymptomatic Carriers and Patients With<i>C9orf72</i>Amyotrophic Lateral Sclerosis

8 Sept 2015

Abstract excerpt

IMPORTANCE: The identification of the chromosome 9 open reading frame 72 (c9orf72) gene hexanucleotide repeat expansion represents a major advance in the understanding of amyotrophic lateral sclerosis (ALS) pathogenesis. The pathophysiological mechanism by which the c9orf72 gene expansion leads to neurodegeneration is not yet elucidated. Cortical hyperexcitability is potentially an important pathophysiological...

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PMID: 26348842
DOI: 10.1001/jamaneurol.2015.1872

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