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
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
38811997 (PubMed )
Supplement: 40035_2024_416_MOESM1_ESM.docx
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
Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations.
De Vocht J et al.
Cells, 2023
36980274 (PubMed )
Supplement: cells-12-00933-s001.zip › cells-2228473-SM.pdf
Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation.
Masrori P et al.
European Journal of Neurology, 2022
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