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Article

Case control analysis of repeat expansion size in ataxia.

Neuroscience letters - 11 Dec 2007

Majounie E, Wardle M, Muzaimi M, Cross W C, Robertson N P, Williams N M, Morris H R

Abstract excerpt

Spinocerebellar ataxias (SCAs) are a group of clinically and genetically heterogeneous neurological diseases. The expansion of unstable microsatellite repeats has been identified as the underlying pathogenic cause of 10 subtypes of autosomal dominant SCAs. The aetiology of sporadic SCA is unknown. The aim of this study was to investigate the effect of large normal repeats in patients presenting with sporadic or...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17961920
DOI: 10.1016/j.neulet.2007.09.055

Genes

ATN1
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
TBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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