Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review
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DOI: 10.1038/srep44606
Abstract: Although the copper/zinc superoxide dismutase-1 (SOD1) gene has been identified in both familial ALS (FALS) and sporadic ALS (SALS), it has rarely been studied in Chinese patients with ALS, and there are few studies with… read more here.
Keywords: mutations chinese; sod1 mutations; mutation; literature review ... See more keywords
Response to: SOD1 mutations in adult‐onset distal spinal muscular atrophy
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DOI: 10.1111/ene.14425
Abstract: We thank Dr de Fuenmayor-Fernández de la Hoz and colleagues for their interest in our paper and their comments. Clearly distinguishing neurogenic from myogenic disease processes is not always straightforward and we fully share the… read more here.
Keywords: adult onset; sod1 mutations; response sod1; onset distal ... See more keywords
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease
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DOI: 10.1111/ene.15661
Abstract: The aim of this study was to describe the frequency and distribution of SOD1 mutations in Spain, and to explore factors contributing to their phenotype and prognosis. read more here.
Keywords: sod1 mutations; spain impact; impact genotype; genotype age ... See more keywords
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1169689
Abstract: Introduction SOD1 was the first gene associated with both familial and sporadic forms of amyotrophic lateral sclerosis (ALS) and is the second most mutated gene in Caucasian ALS patients. Given their high clinical and molecular… read more here.
Keywords: als patients; sod1 mutations; lateral sclerosis; sod1 ... See more keywords