Associated Papers
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
Clinical features and progress in diagnosis and treatment of amyotrophic lateral sclerosis.
Yuan D et al.
Annals of Medicine, 2024
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.
Sabatelli M et al.
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
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Calvo A et al.
Annals of 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
Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.
Martinelli I et al.
Journal of Neurology, 2023
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Spargo TP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.
Canosa A et al.
Biomedicines, 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
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Canosa A et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2022
SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.
Ruffo P et al.
Genes, 2022
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M et al.
Neurology. Genetics, 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
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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Perrone B et al.
Expert Review of Molecular Diagnostics, 2020
The multistep hypothesis of ALS revisited: The role of genetic mutations.
Chiò A et al.
Neurology, 2018
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
Bertolin C et al.
Neurobiology of Aging, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Extensive genetics of ALS: a population-based study in Italy.
Chiò A et al.
Neurology, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Brown JA et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.
Luigetti M et al.
Neurobiology of Aging, 2011