2024
DOI: 10.1002/ctm2.1504
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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

David Pellerin,
Matt C. Danzi,
Mathilde Renaud
et al.

Abstract: Hereditary ataxias, especially when presenting sporadically in adulthood, present a particular diagnostic challenge owing to their great clinical and genetic heterogeneity. Currently, up to 75% of such patients remain without a genetic diagnosis. In an era of emerging disease‐modifying gene‐stratified therapies, the identification of causative alleles has become increasingly important. Over the past few years, the implementation of advanced bioinformatics tools and long‐read sequencing has allowed the identifi… Show more

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Cited by 16 publications
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