SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

Abstract Mutations in superoxide dismutase 1 gene (SOD1) are linked to amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder predominantly affecting upper and lower motor neurons. The clinical phenotype of ALS shows inter- and intrafamilial heterogeneity. The aim of the study was to anal...

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Main Authors: Mariusz Berdyński, Przemysław Miszta, Krzysztof Safranow, Peter M. Andersen, Mitsuya Morita, Sławomir Filipek, Cezary Żekanowski, Magdalena Kuźma-Kozakiewicz
Format: Article
Language:English
Published: Nature Portfolio 2022-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-03891-8

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