Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Tofersen: A Review in Amyotrophic Lateral Sclerosis Associated with SOD1 Mutations.
McGuigan A et al.
Cns Drugs, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?
Martinelli I et al.
Neural Regeneration Research, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis.
Li J et al.
European Journal of Neurology, 2024
Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
Wang PS et al.
Annals of Medicine, 2024
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational 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
Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.
Martinelli I et al.
Journal of Neurology, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 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
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
FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS.
Zhou B et al.
Molecular Neurobiology, 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
Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study.
Benatar M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M et al.
Scientific Reports, 2022
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
A Novel Variant in Superoxide Dismutase 1 Gene (p.V119M) in Als Patients with Pure Lower Motor Neuron Presentation.
Ricci C et al.
Genes, 2021
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021