New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and under...

Descripción completa

Detalles Bibliográficos
Autores principales: Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martinez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928420/
https://www.ncbi.nlm.nih.gov/pubmed/35310830
http://dx.doi.org/10.1093/braincomms/fcac030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928420/
https://www.ncbi.nlm.nih.gov/pubmed/35310830
http://dx.doi.org/10.1093/braincomms/fcac030

Ejemplares similares