A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

BACKGROUND: Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurre...

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Detalles Bibliográficos
Autores principales: Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406/
https://www.ncbi.nlm.nih.gov/pubmed/33811518
http://dx.doi.org/10.1007/s00415-021-10524-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8463406/
https://www.ncbi.nlm.nih.gov/pubmed/33811518
http://dx.doi.org/10.1007/s00415-021-10524-7

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