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
Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis.
Miller TM et al.
Jama Neurology, 2026
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
Early Dropped Head Syndrome Is More Prevalent in C9orf72 and FUS/TLS ALS.
Gamez J et al.
Muscle & Nerve, 2025
Development of a targeted BioPROTAC degrader selective for misfolded SOD1.
Chisholm CG et al.
Nature Communications, 2025
Muscle-derived miR-126 regulates TDP-43 axonal local synthesis and NMJ integrity in ALS models.
Ionescu A et al.
Nature Neuroscience, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
The effect of aging on post-translational modifications of wild-type human SOD1 and the A5V ALS mutant.
Freitas de Souza G et al.
Geroscience, 2025
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
Aggregation-Prone Pathogenic SOD1 Variants in Amyotrophic Lateral Sclerosis: Insights from Computational Genomics and Evolutionary Conservation.
Anjum F et al.
Journal of Molecular Neuroscience : Mn, 2025
Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.
Bedja-Iacona L et al.
International Journal of Molecular Sciences, 2025
Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Spargo TP et al.
Biomedicines, 2025
Neurodegenerative and neuroinflammatory changes in SOD1-ALS patients receiving tofersen.
Simonini C et al.
Scientific Reports, 2025
Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations.
Vinceti M et al.
Biological Trace Element Research, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Steigerwald CG et al.
Journal of Genetic Counseling, 2025
Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?
Martinelli I et al.
Neural Regeneration Research, 2025
Mutational and transcriptional profiling of cuproptosis-associated genes in amyotrophic lateral sclerosis.
He D et al.
Genes & Diseases, 2025
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.
Howard J et al.
European Journal of Human Genetics : Ejhg, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.
McFarlane R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Berdyński M et al.
Human Mutation, 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
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.
De La Cruz E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S et al.
Cell Genomics, 2024
Early nuclear phenotypes and reactive transformation in human iPSC-derived astrocytes from ALS patients with SOD1 mutations.
Soubannier V et al.
Glia, 2024
Body mass index is lower in asymptomatic C9orf72 expansion carriers but not in SOD1 pathogenic variant carriers compared to gene negatives.
Lee I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024