Associated Papers
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
Protein aggregation and its affecting mechanisms in neurodegenerative diseases.
Wu J et al.
Neurochemistry International, 2024
Updates on Disease Mechanisms and Therapeutics for Amyotrophic Lateral Sclerosis.
Nguyen L
Cells, 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
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
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
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 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
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.
Yousefian-Jazi A et al.
Cells, 2020
ALS Genetics: Gains, Losses, and Implications for Future Therapies.
Kim G et al.
Neuron, 2020
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