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Article

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

Human mutation - 1 Apr 2009

Corrado Lucia, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle F E, Silani V, D'Alfonso S

Abstract excerpt

Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS) patients in the TARDBP gene encoding TAR DNA binding protein (TDP)-43, the major protein of the ubiquitinated inclusions (UBIs) found in affected motor neurons (MNs). The aim of this study was to further defi...

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Identifiers

PMID: 19224587
DOI: 10.1002/humu.20950

Genes

TARDBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19224587-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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