Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

Mutations in the copper zinc superoxide dismutase 1 (SOD1) gene are the second most frequent cause of familial amyotrophic lateral sclerosis (ALS). Nearly 200 mutations of this gene have been described so far. We report all SOD1 pathogenic variants identified in patients followed in the single ALS c...

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Detalles Bibliográficos
Autores principales: Bernard, Emilien, Pegat, Antoine, Svahn, Juliette, Bouhour, Françoise, Leblanc, Pascal, Millecamps, Stéphanie, Thobois, Stéphane, Guissart, Claire, Lumbroso, Serge, Mouzat, Kevin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554847/
https://www.ncbi.nlm.nih.gov/pubmed/32948071
http://dx.doi.org/10.3390/ijms21186807

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554847/
https://www.ncbi.nlm.nih.gov/pubmed/32948071
http://dx.doi.org/10.3390/ijms21186807

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