SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

doi:10.1136/jmg.2010.077180

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Article

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Journal of medical genetics - 1 Aug 2010

Millecamps Stéphanie, Salachas François, Cazeneuve Cécile, Gordon Paul, Bricka Bernard, Camuzat Agnès, Guillot-Noël Léna, Russaouen Odile, Bruneteau Gaëlle, Pradat Pierre-François, Le Forestier Nadine, Vandenberghe Nadia, Danel-Brunaud Véronique, Guy Nathalie, Thauvin-Robinet Christel, Lacomblez Lucette, Couratier Philippe, Hannequin Didier, Seilhean Danielle, Le Ber Isabelle, Corcia Philippe, Camu William, Brice Alexis, Rouleau Guy, LeGuern Eric, Meininger Vincent

Abstract excerpt

BACKGROUND: Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). METHODS: The relative contributions of the different mutations to ALS were estimated by systematically screening a cohort of 162 families enrolled in France and 500 controls...

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Identifiers

PMID: 20577002
DOI: 10.1136/jmg.2010.077180

Genes

FUS
SOD1
TARDBP
ANG
VAPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20577002-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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