Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
about
An 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 1AAscorbic acid for the treatment of Charcot-Marie-Tooth diseaseA nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigreeManagement of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachA brief review of recent Charcot-Marie-Tooth research and prioritiesAbsence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 diseasePsychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study.Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseasesNovel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificityNatural history and biomarkers in hereditary sensory neuropathy type 1CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A PatientsGenotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndromePlasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patientsGenetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?Anterior tibialis CMAP amplitude correlations with impairment in CMT1A.Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophyTransitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease.Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trialSIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.Clinical and biophysical characterization of 19 GJB1 mutations.Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient RegistryEffect of pain in pediatric inherited neuropathiesTherapeutic options in Charcot-Marie-Tooth diseases.Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).Pain and Physical Functioning in Neuropathic Pain: A Systematic Review of Psychometric Properties of Various Outcome Measures.A novel missense mutation of CMT2P alters transcription machinery.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Relationship between physical performance and quality of life in Charcot-Marie-Tooth disease: a pilot study.
P2860
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P2860
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
description
2011 nî lūn-bûn
@nan
2011 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@ast
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@en
type
label
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@ast
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@en
prefLabel
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@ast
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@en
P2093
P2860
P1476
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.
@en
P2093
David N Herrmann
Davide Pareyson
Mary M Reilly
Michael E Shy
Michael P McDermott
Sinéad M Murphy
Steven S Scherer
P2860
P304
P356
10.1111/J.1529-8027.2011.00350.X
P577
2011-09-01T00:00:00Z