Associated Papers
Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.
Keerthipriya MS et al.
Journal of Neurology, 2026
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
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 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
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
Wang PS et al.
Annals of Medicine, 2024
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2024
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.
Sabatelli M et al.
Journal of Neurology, 2024
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Calvo A et al.
Annals 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
Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers.
Yilmaz R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
Analysis of SOD1 variants in Chinese patients with familial amyotrophic lateral sclerosis.
Li H et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.
Canosa A et al.
Biomedicines, 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
Signature of miRNAs derived from the circulating exosomes of patients with amyotrophic lateral sclerosis.
Cheng YF et al.
Frontiers in Aging Neuroscience, 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 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
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM et al.
The New England Journal of Medicine, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation.
Sawamura M et al.
Scientific Reports, 2022
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Canosa A et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2022
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Bartoletti-Stella A et al.
Journal of Neurology, 2021
Extensive heterogeneity in patients with ALS with mutations in SOD1 in France.
Andersen PM
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
de Souza PVS et al.
Orphanet Journal of Rare Diseases, 2021
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
Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Pal S et al.
Bmc Neuroscience, 2020
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
Müller K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis.
Vats A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Bertolin C et al.
Neurobiology of Aging, 2014