Associated Papers
Four families with slowly progressive ALS due to p.Val120Leu SOD1 variant in Northeast Brazil.
Gondim FAA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Immune Dysregulation in a Child With SOD1-Related Neurological Disease.
Boutin RCT et al.
American Journal of Medical Genetics. Part A, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Berdyński M et al.
Human Mutation, 2025
A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family.
Fernandes JMA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome.
Dogan M et al.
Molecular Biology Reports, 2024
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.
Çakar A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023
Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation.
Forsberg KM et al.
Acta Neuropathologica, 2023
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Park JH et al.
Brain Communications, 2023
A pathological link between dysregulated copper binding in Cu/Zn-superoxide dismutase and amyotrophic lateral sclerosis.
Furukawa Y
Journal of Clinical Biochemistry and Nutrition, 2022
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
Modeling neurodegenerative disorders in zebrafish.
Bashirzade AA et al.
Neuroscience and Biobehavioral Reviews, 2022
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Ezer S et al.
Brain : a Journal of Neurology, 2022
A case of SOD1 deficiency: implications for clinical trials.
Farrimond L et al.
Brain : a Journal of Neurology, 2022
SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.
Berdyński M et al.
Scientific Reports, 2022
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities.
Muratet F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
de Souza PVS et al.
Orphanet Journal of Rare Diseases, 2021
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.
Guissart C et al.
Scientific Reports, 2020
Does wild-type Cu/Zn-superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?
Furukawa Y et al.
Translational Neurodegeneration, 2020
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
Andersen PM et al.
The New England Journal of Medicine, 2019
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Park JH et al.
Brain : a Journal of Neurology, 2019