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Article

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Annals of neurology - 1 Feb 2020

Villar-Quiles Rocío N, Catervi Fabio, Cabet Eva, Juntas-Morales Raul, Genetti Casie A, Gidaro Teresa, Koparir Asuman, Yüksel Adnan, Coppens Sandra, Deconinck Nicolas, Pierce-Hoffman Emma, Lornage Xavière, Durigneux Julien, Laporte Jocelyn, Rendu John, Romero Norma B, Beggs Alan H, Servais Laurent, Cossée Mireille, Olivé Montse, Böhm Johann, Duband-Goulet Isabelle, Ferreiro Ana

Abstract excerpt

OBJECTIVE: Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. METHODS: Clinical, molecular, histological, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31794073
DOI: 10.1002/ana.25660
PMCID: PMC6980348

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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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