Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14

Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cerebellum
Main Authors: Ihl, Thomas, Kadas, Ella M., Oberwahrenbrock, Timm, Endres, Matthias, Klockgether, Thomas, Schroeter, Jan, Brandt, Alexander U., Paul, Friedemann, Minnerop, Martina, Doss, Sarah, Schmitz-Hübsch, Tanja, Zimmermann, Hanna G.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7351844/
https://ncbi.nlm.nih.gov/pubmed/32338350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-020-01130-w
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados