Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

OBJECTIVE: To determine the clinical and molecular features in patients with amyotrophic lateral sclerosis 4 (ALS4) due to mutations in the senataxin (SETX) gene and to develop tools for evaluating SETX variants. METHODS: Our study involved 32 patients, including 31 with mutation in SETX at c.1166 T...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Grunseich, Christopher, Patankar, Aneesh, Amaya, Joshua, Watts, Jason A., Li, Dongjun, Ramirez, Prisila, Schindler, Alice B., Fischbeck, Kenneth H., Cheung, Vivian G.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7818251/
https://ncbi.nlm.nih.gov/pubmed/31957062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25681
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados