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
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
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapy.
Bye CR et al.
Nature Neuroscience, 2026
A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.
Nakamura R et al.
Communications Biology, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Divergent Brain Network Activity in Asymptomatic C9orf72 and SOD1 Variant Carriers Compared With Established Amyotrophic Lateral Sclerosis.
Trubshaw M et al.
Human Brain Mapping, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis.
Fioretti PV et al.
Brain : a Journal of Neurology, 2025
The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.
Guha A et al.
Aging, 2025
Sporadic ALS induced pluripotent stem cell derived neurons reveal hallmarks of TDP-43 loss of function.
Rothstein JD et al.
Nature Communications, 2025
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.
Corcia P et al.
European Journal of Neurology, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Long-Term Tofersen and CSF Macrophage Inclusions in Superoxide Dismutase 1 Amyotrophic Lateral Sclerosis.
DuVal MG et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.
Spargo TP 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
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a "real-world" setting.
Smith SE et al.
Annals of Clinical and Translational Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.
McFarlane R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
Clinical features and progress in diagnosis and treatment of amyotrophic lateral sclerosis.
Yuan D et al.
Annals of Medicine, 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
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2024
The myokine FGF21 associates with enhanced survival in ALS and mitigates stress-induced cytotoxicity.
Guha A et al.
Biorxiv : the Preprint Server for Biology, 2024
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ et al.
Journal of Neurology, 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
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS.
Spence H et al.
Acta Neuropathologica, 2024
Computational screening of damaging nsSNPs in human SOD1 genes associated with amyotrophic lateral sclerosis identifies destabilising effects of G38R and G42D mutations through in silico evaluation.
Bhor S et al.
In Silico Pharmacology, 2024
Highly variable molecular signatures of TDP-43 loss of function are associated with nuclear pore complex injury in a population study of sporadic ALS patient iPSNs.
Rothstein JD et al.
Biorxiv : the Preprint Server for Biology, 2023
Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts.
Rifai OM et al.
Brain : a Journal of Neurology, 2023
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2023