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
ALS-plus related clinical and genetic study from China.
Chang C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp001.pdf
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 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
Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Pal S et al.
Bmc Neuroscience, 2020
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1
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