Phenotype of Charcot-Marie-Tooth disease Type 2.

Phenotype of Charcot-Marie-Tooth disease Type 2.

Item
http://www.wikidata.org/entity/Q44597357
GARS axonopathy: not every neuron's cup of tRNACocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in GlycylationA major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth diseaseDiagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.MFN2 mutations cause severe phenotypes in most patients with CMT2A.Mitochondrial dysregulation in the pathogenesis of diabetes: potential for mitochondrial biogenesis-mediated interventions.Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeMutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in miceRab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling.Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
P2860

Phenotype of Charcot-Marie-Tooth disease Type 2.

Item
http://www.wikidata.org/entity/Q44597357
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Phenotype of Charcot-Marie-Tooth disease Type 2.
@en
Phenotype of Charcot-Marie-Tooth disease Type 2.
@nl
type
label
Phenotype of Charcot-Marie-Tooth disease Type 2.
@en
Phenotype of Charcot-Marie-Tooth disease Type 2.
@nl
prefLabel
Phenotype of Charcot-Marie-Tooth disease Type 2.
@en
Phenotype of Charcot-Marie-Tooth disease Type 2.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Phenotype of Charcot-Marie-Tooth disease Type 2.
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000263479.97552.94
P407
P433
P478
P50
P577
P698