Article

Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms

2024-04-19

Abstract excerpt

<title>Abstract</title> <p>Spinocerebellar ataxias (SCA) are most frequently due to (CAG)n (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansion SCA). In this study we compared polyQ and non-repeat expansion SCA, in a cohort of patients with hereditary ataxia followed at a tertiary hospital. From a prosp...

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Literature Corpus work: c28a972a-0d3f-5e6f-8c80-c659f3fbb88a
DOI: 10.21203/rs.3.rs-4200296/v1

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