Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
about
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseA complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Cowchock syndrome is associated with a mutation in apoptosis-inducing factorJean-Martin Charcot: the father of neurologyThe epidemiology and risk factors of chronic polyneuropathyCharcot-Marie-Tooth disease and intracellular trafficA deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathyTRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathiesMultiple Sites Ultrasonography of Peripheral Nerves in Differentiating Charcot-Marie-Tooth Type 1A from Chronic Inflammatory Demyelinating Polyradiculoneuropathy.Heat shock proteins: cellular and molecular mechanisms in the central nervous system.Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 geneMotor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathySeverity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral NodesIron homeostasis in peripheral nervous system, still a black box?CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.The effects of anesthesia on measures of nerve conduction velocity in male C57Bl6/J mice.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Inherited neuromuscular disorders: pathway to diagnosis.Next generation sequencing for molecular diagnosis of neuromuscular diseases.Postural stabilization and balance assessment in Charcot-Marie-Tooth 1A subjectsBalance and muscle power of children with Charcot-Marie-ToothFacioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol.Catheter-based distal sciatic nerve block in patients with Charcot-Marie-Tooth disease.Sleep pattern in Charcot-Marie-Tooth disease type 2: report of family case series.Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.Misunderstanding of foot drop in a patient with charcot-marie-tooth disease and lumbar disk herniationLocal translation of extranuclear lamin B promotes axon maintenanceImpaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetasesThe influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth diseaseMutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in miceComparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice.Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patientsHigh-throughput sequencing and rare genetic diseases.
P2860
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P2860
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@ast
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@en
type
label
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@ast
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@en
prefLabel
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@ast
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@en
P3181
P1433
P1476
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
@en
P2093
Chiara Marchesi
Davide Pareyson
P304
P3181
P356
10.1016/S1474-4422(09)70110-3
P577
2009-07-01T00:00:00Z