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Article

Friedreich's ataxia: treatment within reach.

The Lancet. Neurology - 1 Oct 2002

Dürr Alexandra

Abstract excerpt

Friedreich's ataxia (FA) is the most prevalent cerebellar ataxia in children and adults in Europe. FA is one of a growing number of diseases known to be caused by triplet-repeat expansions. The causative mutation is a GAA trinucleotide-repeat expansion in the first intron of the frataxin gene. The mitochondrial localisation of frataxin and decreased oxidation activity in vivo and in vitro show that FA is a...

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Source

Identifiers

PMID: 12849398
DOI: 10.1016/s1474-4422(02)00162-x

Genes

GAA

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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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