Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
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Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosisDifferent human copper-zinc superoxide dismutase mutants, SOD1G93A and SOD1H46R, exert distinct harmful effects on gross phenotype in miceVAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland familiesCharacterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosisLoss of association of REEP2 with membranes leads to hereditary spastic paraplegiaFrequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisClinical and experimental applications of sodium phenylbutyrateThe product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFsWhole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisEnhancing CNS repair in neurological disease: challenges arising from neurodegeneration and rewiring of the networkMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMolecular motor proteins and amyotrophic lateral sclerosisThe Wnt and BMP families of signaling morphogens at the vertebrate neuromuscular junctionFunction and regulation of the endosomal fusion and fission machineriesRedox regulation in amyotrophic lateral sclerosisMutant TDP-43 and FUS cause age-dependent paralysis and neurodegeneration in C. elegansNeuronal reprograming of protein homeostasis by calcium-dependent regulation of the heat shock responseGrowth differentiation factor 6 as a putative risk factor in neuromuscular degenerationLoss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal traffickingIn Vivo imaging reveals distinct inflammatory activity of CNS microglia versus PNS macrophages in a mouse model for ALSThe Cu, Zn Superoxide Dismutase: Not Only a Dismutase EnzymeThe potential of GPNMB as novel neuroprotective factor in amyotrophic lateral sclerosisThe blood-spinal cord barrier: morphology and clinical implicationsATP7A-related copper transport diseases-emerging concepts and future trendsSpg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signalingInhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinaseA high-density genome-wide association screen of sporadic ALS in US veteransA comprehensive assessment of the SOD1G93A low-copy transgenic mouse, which models human amyotrophic lateral sclerosis.High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function.Deficits in axonal transport precede ALS symptoms in vivo.Axonal transport deficits and degeneration can evolve independently in mouse models of amyotrophic lateral sclerosis.An estimate of amyotrophic lateral sclerosis heritability using twin data.Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis.Effects of aerobic exercise therapy and cognitive behavioural therapy on functioning and quality of life in amyotrophic lateral sclerosis: protocol of the FACTS-2-ALS trialDrosophila melanogaster in the study of human neurodegeneration.De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.Senataxin mutations and amyotrophic lateral sclerosis.Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions.Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.
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Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 13 October 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@en
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@nl
type
label
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@en
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@nl
prefLabel
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@en
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@nl
P356
P1476
Genetics of motor neuron disorders: new insights into pathogenic mechanisms.
@en
P2093
Hussein Daoud
P2888
P304
P356
10.1038/NRG2680
P577
2009-10-13T00:00:00Z