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Article

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Aug 2012

Belzil Véronique V, André-Guimont Catherine, Atallah Marie-Renée, Daoud Hussein, Dupré Nicolas, Bouchard Jean-Pierre, Camu William, Dion Patrick A, Rouleau Guy A

Abstract excerpt

BACKGROUND: Substantial efforts have been deployed in the past decade to identify the genetic causes of amyotrophic lateral sclerosis (ALS), and we hypothesized here that mutations in SORT1 or aberrant SORT1 splicing reduce progranulin level and promote neurodegeneration. METHODS: We sequenced the coding exons of SORT1 in a cohort of 112 unrelated individuals with familial ALS. We also tested for aberrant SORT1...

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Source

Identifiers

PMID: 22361451
DOI: 10.1016/j.neurobiolaging.2012.01.011

Genes

SORT1
TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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