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
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.
Nakamura R et al.
Communications Biology, 2025
Familial ALS With p. L127S (L126S) Variant of the Cu/Zn SOD1 Gene: A Report of Two New Cases and Literature Review.
Inoue K et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.
Inoue K et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Profiling of Protein-Coding Missense Mutations in Mendelian Rare Diseases: Clues from Structural Bioinformatics.
Visibelli A et al.
International Journal of Molecular Sciences, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
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
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Gagliardi D 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
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
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
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
Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Pal S et al.
Bmc Neuroscience, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 2020
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
Nakamura R et al.
Neurobiology of Aging, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011