2024
DOI: 10.1002/mds.29910
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STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Raquel Baviera‐Muñoz,
Lidón Carretero‐Vilarroig,
Ana Pedro‐Ibor
et al.

Abstract: BackgroundSpinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.ObjectivesWe aimed to further investigate the molecular background of patients with SCA8 diagnosis.MethodsPatients were selected from our cohort of 346 families. A total of 14 probands with SCA8 underwent additional investigation through exom… Show more

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