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 › ClinVarVariants_LLRps
Two Families With Amyotrophic Lateral Sclerosis Founder Mutation TARDBP p.G298S in Hong Kong.
Yip MK et al.
Cureus, 2025
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 › ClinVar_ReferenceSet
Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation.
Sawamura M et al.
Scientific 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
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
Pang SY et al.
Neurobiology of Aging, 2017
An analysis of the entire SOD1 gene in sporadic ALS.
Luquin N et al.
Neuromuscular Disorders : Nmd, 2008
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