Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 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
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 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
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
Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations.
De Vocht J et al.
Cells, 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
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 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
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Kalia M et al.
Computational and Structural Biotechnology Journal, 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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 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
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 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
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
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M et al.
Neurology, 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
CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
Yun Y et al.
International Journal of Molecular Sciences, 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
The biophysics of superoxide dismutase-1 and amyotrophic lateral sclerosis.
Wright GSA et al.
Quarterly Reviews of Biophysics, 2019
The multistep hypothesis of ALS revisited: The role of genetic mutations.
Chiò A et al.
Neurology, 2018
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
Müller K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.
Wei Q et al.
Scientific Reports, 2017
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
Nakamura R et al.
Neurobiology of Aging, 2016
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013