Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

OBJECTIVE: To identify the genetic cause of autosomal dominant ataxia complicated by behavioral abnormalities, cognitive decline, and autism in 2 families and to characterize brain neuropathologic signatures of dominant STUB1-related ataxia and investigate the effects of pathogenic variants on STUB1...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Dong-Hui, Latimer, Caitlin, Yagi, Mayumi, Ndugga-Kabuye, Mesaki Kenneth, Heigham, Elyana, Jayadev, Suman, Meabon, James S., Gomez, Christopher M., Keene, C. Dirk, Cook, David G., Raskind, Wendy H., Bird, Thomas D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073456/
https://www.ncbi.nlm.nih.gov/pubmed/32211513
http://dx.doi.org/10.1212/NXG.0000000000000397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073456/
https://www.ncbi.nlm.nih.gov/pubmed/32211513
http://dx.doi.org/10.1212/NXG.0000000000000397

Ejemplares similares