Associated Papers
Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis.
Nakajima M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Berdyński M et al.
Human Mutation, 2025
40551967 (PubMed )
Supplement: 9792233.f1.docx
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree.
Li Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
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