Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
about
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseAn exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1AA nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigreeCharcot-Marie-Tooth disease and intracellular trafficCongenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.In vivo electrophysiological measurements on mouse sciatic nervesRapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patientsCharcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy.Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.Misunderstanding of foot drop in a patient with charcot-marie-tooth disease and lumbar disk herniationThe influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot-Marie-Tooth diseaseComparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases.Morphology of Donor and Recipient Nerves Utilised in Nerve Transfers to Restore Upper Limb Function in Cervical Spinal Cord Injury.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Pes cavus and hereditary neuropathies: when a relationship should be suspected.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Peripheral neuropathies in rheumatic disease--a guide to diagnosis.Spinal Charcot-Marie-Tooth disease: a reappraisal.Cytoplasmic dynein: a key player in neurodegenerative and neurodevelopmental diseases.Effects of Self-Selected Exercise on Strength in Charcot-Marie-Tooth Disease Subtypes.A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment.Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.DHTKD1 deficiency causes Charcot-Marie-Tooth disease in mice.Genetic epidemiology of Charcot-Marie-Tooth disease.Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot StudyTargeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy
P2860
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P2860
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
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
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@ast
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@en
type
label
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@ast
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@en
prefLabel
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@ast
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@en
P2093
P2860
P356
P1476
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
@en
P2093
P2860
P2888
P356
10.1385/NMM:8:1-2:3
P577
2006-01-01T00:00:00Z
P6179
1038371095