?True? sporadic ALS associated with a novel SOD-1 mutation
about
State of play in amyotrophic lateral sclerosis geneticsImmature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations.A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Motor neurons and glia exhibit specific individualized responses to TDP-43 expression in a Drosophila model of amyotrophic lateral sclerosis.High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients.Biochemical properties and in vivo effects of the SOD1 zinc-binding site mutant (H80G)PPAR gamma activation is neuroprotective in a Drosophila model of ALS based on TDP-43.CRESTing the ALS mountainGenome-wide analysis of the heritability of amyotrophic lateral sclerosis.Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited DiseaseA systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.Emerging disease-modifying therapies for the treatment of motor neuron disease/amyotropic lateral sclerosis.Exome sequencing to identify de novo mutations in sporadic ALS triosA new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.Clinical and genetic heterogeneity of amyotrophic lateral sclerosis.Genetic counselling in ALS: facts, uncertainties and clinical suggestions.Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.ALS: Recent Developments from Genetics Studies.Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.Impaired post-translational folding of familial ALS-linked Cu, Zn superoxide dismutase mutants.Genetic screening in sporadic ALS and FTD.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Familial Amyotrophic Lateral Sclerosis.THEME 5 HUMAN CELL BIOLOGY & PATHOLOGYMutational analysis of familial and sporadic amyotrophic lateral sclerosis withOPTNmutations in Japanese populationTheme 9 GeneticsA novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course
P2860
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P2860
?True? sporadic ALS associated with a novel SOD-1 mutation
description
im Oktober 2002 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2002
@uk
name
?True? sporadic ALS associated with a novel SOD-1 mutation
@en
?True? sporadic ALS associated with a novel SOD-1 mutation
@nl
type
label
?True? sporadic ALS associated with a novel SOD-1 mutation
@en
?True? sporadic ALS associated with a novel SOD-1 mutation
@nl
prefLabel
?True? sporadic ALS associated with a novel SOD-1 mutation
@en
?True? sporadic ALS associated with a novel SOD-1 mutation
@nl
P2093
P2860
P356
P1433
P1476
?True? sporadic ALS associated with a novel SOD-1 mutation
@en
P2093
Bernie Corr
Bryan J. Traynor
Eithne Frost
Francesca M. Brett
Michael D. Alexander
Nicole Miller
Shirley McQuaid
P2860
P304
P356
10.1002/ANA.10369
P577
2002-10-24T00:00:00Z