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 › abundance_map_scores_LLRps
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 › activity_map_scores
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Berdyński M et al.
Human Mutation, 2025
40551967 (PubMed )
Supplement: 9792233.f1.docx
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M et al.
Scientific Reports, 2022
34996976 (PubMed )
Supplement: 41598_2021_3891_MOESM3_ESM.pdf
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