Associated Papers
SOD1 mutations in Taiwanese ALS patients: Clinical characteristics, frequency, and a p.T138R founder effect.
Jih KY et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Divergent and Convergent TMEM106B Pathology in Murine Models of Neurodegeneration and Human Disease.
Du M et al.
Research Square, 2024
Divergent and Convergent TMEM106B Pathology in Murine Models of Neurodegeneration and Human Disease.
Du M et al.
Biorxiv : the Preprint Server for Biology, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
Understanding In Vitro Pathways to Drug Discovery for TDP-43 Proteinopathies.
Cheng HWA et al.
International Journal of Molecular Sciences, 2022
Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301.
Fels JA et al.
Human Molecular Genetics, 2022
SOD1 in ALS: Taking Stock in Pathogenic Mechanisms and the Role of Glial and Muscle Cells.
Peggion C et al.
Antioxidants (basel, Switzerland), 2022
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
Small Hexokinase 1 Peptide against Toxic SOD1 G93A Mitochondrial Accumulation in ALS Rescues the ATP-Related Respiration.
Magrì A et al.
Biomedicines, 2021
Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis.
Pereira GRC et al.
Plos One, 2021
ALS-Linked Mutant SOD1 Associates with TIA-1 and Alters Stress Granule Dynamics.
Lee DY et al.
Neurochemical Research, 2020
Clinical characteristics in young-adult ALS - results from a Portuguese cohort study.
Oliveira Santos M et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Pal S et al.
Bmc Neuroscience, 2020
Downregulated miR-18b-5p triggers apoptosis by inhibition of calcium signaling and neuronal cell differentiation in transgenic SOD1 (G93A) mice and SOD1 (G17S and G86S) ALS patients.
Kim KY et al.
Translational Neurodegeneration, 2020
CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
Yun Y et al.
International Journal of Molecular Sciences, 2020
Theme 3 In vitro experimental models.
Yang S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Identification and functional analysis of novel mutations in the SOD1 gene in Chinese patients with amyotrophic lateral sclerosis.
Lin HX et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Pathological Modification of TDP-43 in Amyotrophic Lateral Sclerosis with SOD1 Mutations.
Jeon GS et al.
Molecular Neurobiology, 2019
Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis.
Gromicho M et al.
Neurobiology of Aging, 2018
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.
Soong BW et al.
Neurobiology of Aging, 2014
The p.E22G mutation in the Cu/Zn superoxide-dismutase gene predicts a long survival time: clinical and genetic characterization of a seven-generation ALS1 Spanish pedigree.
Syriani E et al.
Journal of the Neurological Sciences, 2009