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Article

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Nature neuroscience - 1 Jul 2013

Chesi Alessandra, Staahl Brett T, Jovičić Ana, Couthouis Julien, Fasolino Maria, Raphael Alya R, Yamazaki Tomohiro, Elias Laura, Polak Meraida, Kelly Crystal, Williams Kelly L, Fifita Jennifer A, Maragakis Nicholas J, Nicholson Garth A, King Oliver D, Reed Robin, Crabtree Gerald R, Blair Ian P, Glass Jonathan D, Gitler Aaron D

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, we assessed the role of de novo mutations in ALS by sequencing the exomes of 47 ALS patients and both of their unaffected parents (...

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PMID: 23708140
DOI: 10.1038/nn.3412
PMCID: PMC3709464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23708140-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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