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...

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Autores principales: Grunseich, Christopher, Patankar, Aneesh, Amaya, Joshua, Watts, Jason A., Li, Dongjun, Ramirez, Prisila, Schindler, Alice B., Fischbeck, Kenneth H., Cheung, Vivian G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818251/
https://www.ncbi.nlm.nih.gov/pubmed/31957062
http://dx.doi.org/10.1002/ana.25681

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