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

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

doi:10.1002/humu.20950

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

Shared by NobleBlocks on Apr 1, 2009 • 12:00 AM UTC

Authors:

Corrado L

Ratti A

Gellera C

Abstract

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 define ...

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