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Article

New findings in the ataxia of Charlevoix-Saguenay.

Journal of neurology - 1 May 2012

Gazulla José, Benavente Isabel, Vela Ana Carmen, Marín Miguel Angel, Pablo Luis Emilio, Tessa Alessandra, Barrena María Rosario, Santorelli Filippo Maria, Nesti Claudia, Modrego Pedro, Tintoré María, Berciano José

Abstract excerpt

The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix-Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations. Five novel mutations, which included nonsense and missense variants, were identified, with these resulting in milder...

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Identifiers

PMID: 21993619
DOI: 10.1007/s00415-011-6269-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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