STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

    September 2014 in “ Orphanet Journal of Rare Diseases ”
    Ketil Heimdal, Mònica Sánchez-Guixé, Ingvild Aukrust … Stefan Johansson
    Studysummary This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
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