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

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

Mutations in the copper zinc superoxide dismutase 1 (<i>SOD1</i>) 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 <i>SOD1</i> pathogenic variants identified in...

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Bibliographic Details
Main Authors: Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso, Kevin Mouzat
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Molecular Sciences
Subjects:
amyotrophic lateral sclerosis
copper zinc superoxide dismutase 1
<i>SOD1</i>
Online Access:https://www.mdpi.com/1422-0067/21/18/6807

Internet

https://www.mdpi.com/1422-0067/21/18/6807

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