A carregar...

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype

Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Med
Main Authors: Santos, Mariana, Damásio, Joana, Kun-Rodrigues, Célia, Barbot, Clara, Sequeiros, Jorge, Brás, José, Alonso, Isabel, Guerreiro, Rita
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7230264/
https://ncbi.nlm.nih.gov/pubmed/32340215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9041212
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!