Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
about
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsManagement of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachDominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.Diagnostic 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.A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyMyelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cellsMolecular mechanisms of inherited demyelinating neuropathies.Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.A Family Harboring CMT1A Duplication and HNPP Deletion.Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathySegregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutationsPMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.PI5P and PI(3,5)P2: Minor, but Essential Phosphoinositides.De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
P2860
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P2860
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
description
2006 nî lūn-bûn
@nan
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
name
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@ast
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@en
type
label
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@ast
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@en
prefLabel
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@ast
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@en
P2860
P356
P1476
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.
@en
P2093
Garth Nicholson
Simon Myers
P2860
P2888
P304
P356
10.1385/NMM:8:1-2:123
P577
2006-01-01T00:00:00Z
P6179
1027099269