A carregar...

Lafora disease — from pathogenesis to treatment strategies

Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, which encode lafori...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Nat Rev Neurol
Main Authors: Nitschke, Felix, Ahonen, Saija J., Nitschke, Silvia, Mitra, Sharmistha, Minassian, Berge A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6317072/
https://ncbi.nlm.nih.gov/pubmed/30143794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41582-018-0057-0
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!