Associated Papers
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 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
Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.
Wang PS et al.
Annals of Medicine, 2024
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM et al.
Brain : a Journal of Neurology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 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
The Role of Superoxide Dismutase 1 in Amyotrophic Lateral Sclerosis: Identification of Signaling Pathways, Regulators, Molecular Interaction Networks, and Biological Functions through Bioinformatics.
Suthar SK et al.
Brain Sciences, 2023
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
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S et al.
Nature Communications, 2022
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants.
Dalla Bella E et al.
Neurology, 2022
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller TM et al.
The New England Journal of Medicine, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis.
Liu W et al.
Neurological Research, 2022
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?
Pal S et al.
Bmc Neuroscience, 2020
CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
Yun Y et al.
International Journal of Molecular Sciences, 2020
The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007.
Balez R et al.
Stem Cell Research, 2020
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.
Henden L et al.
Npj Genomic Medicine, 2020
Theme 2 Genetics and genomics.
Roggenbuck J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The multistep hypothesis of ALS revisited: The role of genetic mutations.
Chiò A et al.
Neurology, 2018
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
McCann EP et al.
Clinical Genetics, 2017
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Keogh MJ et al.
Genome Research, 2017
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
C9orf72 repeat expansions are not detected in Chinese patients with familial ALS.
Liu R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013