Associated Papers
Facial-onset SOD1 amyotrophic lateral sclerosis: A case report and systematic review.
Milella G et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2026
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.
Nakamura R et al.
Communications Biology, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Exploring Protein Misfolding in Amyotrophic Lateral Sclerosis: Structural and Functional Insights.
Ivantsik O et al.
Biomedicines, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.
He D et al.
Genes & Diseases, 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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease.
Bedja-Iacona L et al.
International Journal of Molecular Sciences, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational 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
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Libonati L et al.
Journal of Neurology, 2024
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.
He D et al.
Journal of Neurology, 2024
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 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
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M et al.
Scientific Reports, 2022
Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.
Shibuya K et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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