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Article

FXN GAA repeat expansions in amyotrophic lateral sclerosis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Aug 2014

Rizik Naji, Freischmidt Axel, Ludolph Albert C, Weishaupt Jochen H

Abstract excerpt

Homozygous trinucleotide expansions in the frataxin (FXN) gene are responsible for Friedreich's ataxia. However, heterozygous trinucleotide expansion in FXN results in a decreased expression of frataxin, a component of the mitochondrial respiratory chain, and is associated with a subclinical metabolic phenotype. In this study we thus investigated whether heterozygous FXN trinucleotide expansion is a risk factor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24613765
DOI: 10.1016/j.jocn.2013.10.029

Genes

FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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