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
Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?
Martinelli I et al.
Neural Regeneration Research, 2025
Cognitive deficits in ALS patients with SOD1 mutations.
Winroth I et al.
Journal of Clinical and Experimental Neuropsychology, 2024
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
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
Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A - SOD1 Mutation.
Capece G et al.
Frontiers in Neurology, 2021
Unilateral vocal cord adductor weakness: an atypical manifestation of motor neurone disease.
Yogakanthi S et al.
Bmj Neurology Open, 2021
Metabolomics: A Tool to Understand the Impact of Genetic Mutations in Amyotrophic Lateral Sclerosis.
Lanznaster D et al.
Genes, 2020
Phylogenetic spread of sequence data affects fitness of SOD1 consensus enzymes: Insights from sequence statistics and structural analyses.
Goyal VD et al.
Proteins, 2018
Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives.
Keskin I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.
De Marco G et al.
Neuropathology and Applied Neurobiology, 2017
Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.
Kepp KP
Plos One, 2015
Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.
Moreira LG et al.
Plos One, 2013
ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.
Wuolikainen A et al.
Molecular Genetics and Metabolism, 2012
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.
Origone P et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Motor neuron, nerve, and neuromuscular junction disease.
Finsterer J et al.
Current Opinion in Neurology, 2011
Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.
Hermann A et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011
Disease-related changes in the cerebrospinal fluid metabolome in amyotrophic lateral sclerosis detected by GC/TOFMS.
Wuolikainen A et al.
Plos One, 2011
Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients.
Zetterström P et al.
Journal of Neurochemistry, 2011
Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.
Seetharaman SV et al.
Experimental Biology and Medicine (maywood, N.j.), 2009
Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.
Wang Q et al.
Plos Biology, 2008
SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization.
Banci L et al.
Plos One, 2008
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
Andersen PM et al.
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003