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 › QuadrantID_aminoacidlevel
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
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations.
Leykam L et al.
Neurobiology of Disease, 2024
Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Keskin I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
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