Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
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Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: a phase I pilot studyTwo approaches to drug discovery in SOD1-mediated ALS.GDNF secreting human neural progenitor cells protect dying motor neurons, but not their projection to muscle, in a rat model of familial ALS.Changes in the spinal cord proteome of an amyotrophic lateral sclerosis murine model determined by differential in-gel electrophoresis.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumImmature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS).Physical activity as an exogenous risk factor in motor neuron disease (MND): a review of the evidence.Analysis of neurotrophic factors in limb and extraocular muscles of mouse model of amyotrophic lateral sclerosisFolding of Cu/Zn superoxide dismutase suggests structural hotspots for gain of neurotoxic function in ALS: parallels to precursors in amyloid diseaseThe effect of SOD1 mutation on cellular bioenergetic profile and viability in response to oxidative stress and influence of mutation-type.Adaptive and maladaptive motor axonal sprouting in aging and motoneuron disease.Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS PatientsRNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells.Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.Trends in the molecular pathogenesis and clinical therapeutics of common neurodegenerative disordersA truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degenerationMotor neurons derived from ALS-related mouse iPS cells recapitulate pathological features of ALS.Folding of human superoxide dismutase: disulfide reduction prevents dimerization and produces marginally stable monomersD90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings.Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.Generalization of the prion hypothesis to other neurodegenerative diseases: an imperfect fit.Prion-like activity of Cu/Zn superoxide dismutase: implications for amyotrophic lateral sclerosis.Fluid-Based Biomarkers for Amyotrophic Lateral Sclerosis.Polymorphisms of the gene coding for copper/zinc superoxide dismutase (SOD1) in patients with Japanese encephalitis.Defining SOD1 ALS natural history to guide therapeutic clinical trial design.Sexual dimorphism in disease onset and progression of a rat model of ALS.Aberrantly increased hydrophobicity shared by mutants of Cu,Zn-superoxide dismutase in familial amyotrophic lateral sclerosis.Dynamic properties of SOD1 mutants can predict survival time of patients carrying familial amyotrophic lateral sclerosis.SOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stability.Identification of L84F mutation with a novel nucleotide change c.255G > T in the superoxide dismutase gene in a North Indian family with amyotrophic lateral sclerosis.Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1.Uridine ameliorates the pathological phenotype in transgenic G93A-ALS mice.A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis.G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation.SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management.
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Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes
description
article
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wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2003
@uk
name
Sixteen novel mutations in the ...... coveries, defects and disputes
@en
Sixteen novel mutations in the ...... coveries, defects and disputes
@nl
type
label
Sixteen novel mutations in the ...... coveries, defects and disputes
@en
Sixteen novel mutations in the ...... coveries, defects and disputes
@nl
prefLabel
Sixteen novel mutations in the ...... coveries, defects and disputes
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Sixteen novel mutations in the ...... coveries, defects and disputes
@nl
P2093
P1476
Sixteen novel mutations in the ...... coveries, defects and disputes
@en
P2093
Erik Pioro
Gilmore O'Neill
Hedvika U Heinicke
Johanan S Levine
John Ravits
Katherine B Sims
Michael Boss
Peter M Andersen
Richard D Brower
Rosemary Kiely
P356
10.1080/14660820310011700
P577
2003-06-01T00:00:00Z