Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
40957416 (PubMed )
Supplement: mmc2.xlsx › Huang2024_ClinicalPhenotypes
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
40060668 (PubMed )
Supplement: media-2.xlsx › Huang2024_ClinicalPhenotypes
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
36571338 (PubMed )
Supplement: NRR-18-1427_Suppl2.pdf
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
36672132 (PubMed )
Supplement: brainsci-13-00151-s001.zip › brainsci-2094474-supplementary.pdf
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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Acid sphingomyelinase inhibition improves motor behavioral deficits and neuronal loss in an amyotrophic lateral sclerosis mouse model.
Choi BJ et al.
Bmb Reports, 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
33630959 (PubMed )
Supplement: pone.0247841.s001.docx
SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China.
Chen LX et al.
Frontiers in Genetics, 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
Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis.
Liu ZJ et al.
Aging and Disease, 2019
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
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