Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 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
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
Dysregulation of alternative splicing underlies synaptic defects in familial amyotrophic lateral sclerosis.
Verdile V et al.
Progress in Neurobiology, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 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
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J et al.
Brain Pathology (zurich, Switzerland), 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
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
De novo mutations in SOD1 are a cause of ALS.
Müller K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
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
Missense Mutations of Codon 116 in the SOD1 Gene Cause Rapid Progressive Familial ALS and Predict Short Viability With PMA Phenotype.
Wen X et al.
Frontiers in Genetics, 2021
Quantitative patterns of motor cortex proteinopathy across ALS genotypes.
Nolan M et al.
Acta Neuropathologica Communications, 2020
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.
Hou L et al.
Scientific Reports, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Theme 2 ALS Heterogeneity and Disease Progression.
Unknown Author
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015
A mutation database for amyotrophic lateral sclerosis.
Yoshida M et al.
Human Mutation, 2010