Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Slowly progressing Amyotrophic lateral sclerosis associated with the F21L variant in the SOD1 gene: Demographic and clinical characteristics.
Correa-Arrieta C et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
Effects of Pathogenic Mutants of the Neuroprotective RNase 5-Angiogenin in Amyotrophic Lateral Sclerosis (ALS).
Gotte G
Genes, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
Presence of Rare Variants is Associated with Poorer Survival in Chinese Patients with Amyotrophic Lateral Sclerosis.
Dong S et al.
Phenomics (cham, Switzerland), 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
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study.
Gagliardi D et al.
Frontiers in Neurology, 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
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
The role of the half-turn in determining structures of Alzheimer's Aβ wild-type and mutants.
Hayward S et al.
Journal of Structural Biology, 2021
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
Broadening the genetic spectrum of distal hereditary motor neuropathy.
Rossor AM
European Journal of 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
Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant.
Querin G et al.
Revue Neurologique, 2017
Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity.
Vázquez-Costa JF et al.
Scientific Reports, 2017
Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.
Taieb G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
The predictors of survival in Chinese amyotrophic lateral sclerosis patients.
Wei Q et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015
Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.
Kepp KP
Plos One, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.
Liu R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.
Kuźma-Kozakiewicz M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.
Nakamura A et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Mitochondrial complex I deficiency and ATP/ADP ratio in lymphocytes of amyotrophic lateral sclerosis patients.
Ghiasi P et al.
Neurological Research, 2012
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S et al.
Journal of Medical Genetics, 2010
The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.
Syriani E et al.
Journal of the Neurological Sciences, 2009
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.
Corti S et al.
Journal of the Neurological Sciences, 2009
PITRM1 interaction studies with amyloidogenic nonapeptide mutants of familial Alzheimer's disease.
Wilson Alphonse CR et al.
Journal of Biomolecular Structure & Dynamics, 0