Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

BACKGROUND AND OBJECTIVES: The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous degenerative disorders of the cerebellum. Spinocerebellar ataxia autosomal recessive 10 (SCAR10) is a distinct classification of cerebellar ataxia caused by variants in the A...

Descripción completa

Detalles Bibliográficos
Autores principales: Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872716/
https://www.ncbi.nlm.nih.gov/pubmed/36698452
http://dx.doi.org/10.1212/NXG.0000000000200051

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872716/
https://www.ncbi.nlm.nih.gov/pubmed/36698452
http://dx.doi.org/10.1212/NXG.0000000000200051

Ejemplares similares