Exome sequencing reveals VCP mutations as a cause of familial ALS.

doi:10.1016/j.neuron.2010.11.036

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Article

Exome sequencing reveals VCP mutations as a cause of familial ALS.

Neuron - 9 Dec 2010

Johnson Janel O, Mandrioli Jessica, Benatar Michael, Abramzon Yevgeniya, Van Deerlin Vivianna M, Trojanowski John Q, Gibbs J Raphael, Brunetti Maura, Gronka Susan, Wuu Joanne, Ding Jinhui, McCluskey Leo, Martinez-Lage Maria, Falcone Dana, Hernandez Dena G, Arepalli Sampath, Chong Sean, Schymick Jennifer C, Rothstein Jeffrey, Landi Francesco, Wang Yong-Dong, Calvo Andrea, Mora Gabriele, Sabatelli Mario, Monsurrò Maria Rosaria, Battistini Stefania, Salvi Fabrizio, Spataro Rossella, Sola Patrizia, Borghero Giuseppe, Galassi Giuliana, Scholz Sonja W, Taylor J Paul, Restagno Gabriella, Chiò Adriano, Traynor Bryan J

Abstract excerpt

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, P...

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PMID: 21145000
DOI: 10.1016/j.neuron.2010.11.036
PMCID: PMC3032425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21145000-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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