Associated Papers
Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil.
Gondim FAA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Modulation of Mitochondria-Endoplasmic Reticulum Contacts (MERCs) by Small Molecules as a New Strategy for Restoring Lipid Metabolism in an Amyotrophic Lateral Sclerosis Model.
Etxebeste-Mitxeltorena M et al.
Journal of Medicinal Chemistry, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity.
Fahmy N et al.
Journal of Neurology, 2023
The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.
Suthar SK et al.
Brain Sciences, 2023
Mutation-specific metabolic profiles in presymptomatic amyotrophic lateral sclerosis.
Xia K et al.
European Journal of Neurology, 2023
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Gagliardi D et al.
Frontiers in Neurology, 2023
Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report.
Bayraktar E et al.
Frontiers in Genetics, 2023
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vázquez-Costa JF et al.
European Journal of Neurology, 2022
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S et al.
Nature Communications, 2022
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2021
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C et al.
Human Mutation, 2020
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.
Synofzik M et al.
Human Molecular Genetics, 2012