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Article

Spinocerebellar ataxias: an update

9 Jul 2007

Abstract excerpt

PURPOSE OF REVIEW: Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias. RECENT FINDINGS: Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e. nonrepeat) mutations underlie recently...

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PMID: 17620880
DOI: 10.1097/wco.0b013e3281fbd3dd

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