Associated Papers
Tofersen: A Novel Option for the Treatment of Amyotrophic Lateral Sclerosis.
Karros M et al.
The Annals of Pharmacotherapy, 2026
The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.
Allen MD et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2026
Clinical trajectories and genetic profiles of SOD1-related amyotrophic lateral sclerosis: insights from a single-center cohort in India.
Keerthipriya MS et al.
Journal of Neurology, 2026
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
A Comprehensive Overview of Neurophysiological Correlates of Cognitive Impairment in Amyotrophic Lateral Sclerosis.
Borgheai SB et al.
Cells, 2025
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
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.
Schito P et al.
Journal of Neurology, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Entering the era of precision medicine to treat amyotrophic lateral sclerosis.
Theunissen F et al.
Molecular Neurodegeneration, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.
Corcia P et al.
European Journal of Neurology, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Tofersen Treatment Normalizes Neurofilament Levels in Autosomal Recessive SOD1 Amyotrophic Lateral Sclerosis.
De Wel B et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.
Pensato V et al.
Journal of Neurology, 2025
TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.
Vizziello M et al.
Molecular Neurodegeneration, 2025
Targets and Gene Therapy of ALS (Part 1).
Shiryaeva O et al.
International Journal of Molecular Sciences, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Neurodegenerative and neuroinflammatory changes in SOD1-ALS patients receiving tofersen.
Simonini C et al.
Scientific Reports, 2025
Changes in Cerebrospinal Fluid Concentrations of Selenium Species Induced by Tofersen Administration in Subjects with Amyotrophic Lateral Sclerosis Carrying SOD1 Gene Mutations.
Vinceti M et al.
Biological Trace Element Research, 2025
Correction: Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2025
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
SOD1 gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
Meyer T et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a "real-world" setting.
Smith SE et al.
Annals of Clinical and Translational Neurology, 2025
Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?
Martinelli I et al.
Neural Regeneration Research, 2025
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members.
Howard J et al.
European Journal of Human Genetics : Ejhg, 2025
Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention.
Benatar M et al.
The Lancet. Neurology, 2025
Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.
McFarlane R et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort.
Caravaca Puchades A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide Length.
Berdyński M et al.
Human Mutation, 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
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Nishiyama A et al.
Neurology. Genetics, 2024
Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.
De La Cruz E et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M et al.
Journal of Neurology, 2024
Clinical and patient-reported outcomes and neurofilament response during tofersen treatment in SOD1-related ALS-A multicenter observational study over 18 months.
Meyer T et al.
Muscle & Nerve, 2024
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China.
Jiang Q et al.
Journal of Medical Genetics, 2024
Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.
Sequeira M et al.
Cerebellum (london, England), 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