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Article

FUS and TDP43 genetic variability in FTD and CBS.

Neurobiology of aging - 1 May 2012

Huey Edward D, Ferrari Raffaele, Moreno Jorge H, Jensen Christopher, Morris Christopher M, Potocnik Felix, Kalaria Rajesh N, Tierney Michael, Wassermann Eric M, Hardy John, Grafman Jordan, Momeni Parastoo

Abstract excerpt

This study aimed to evaluate genetic variability in the FUS and TDP-43 genes, known to be mainly associated with amyotrophic lateral sclerosis (ALS), in patients with the diagnoses of frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS). We screened the DNA of 228 patients for all the exons and flanking introns of FUS and TDP-43 genes. We identified 2 novel heterozygous missense mutations in...

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Identifiers

PMID: 21943958
DOI: 10.1016/j.neurobiolaging.2011.08.004
PMCID: PMC4489700

Genes

FUS
CBS

Variants

Provenance

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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