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Article

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Scientific reports - 7 Jan 2022

Berdyński Mariusz, Miszta Przemysław, Safranow Krzysztof, Andersen Peter M, Morita Mitsuya, Filipek Sławomir, Żekanowski Cezary, Kuźma-Kozakiewicz Magdalena

Abstract excerpt

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 analyze the relations between individual SOD1 mutations and the clinical presentation using in silico methods to assess the SOD1...

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Identifiers

PMID: 34996976
DOI: 10.1038/s41598-021-03891-8
PMCID: PMC8742055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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