Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. - Wikidata - wikimedia - TriplyDB

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q30543772

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 1A Ascorbic acid for the treatment of Charcot-Marie-Tooth disease A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach A brief review of recent Charcot-Marie-Tooth research and priorities Absence 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 disease Psychometrics 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 diseases Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity Natural history and biomarkers in hereditary sensory neuropathy type 1 CMT 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 Patients Genotype-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 syndrome Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients Genetic 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 atrophy Transitioning 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 trial SIGMAR1 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 Registry Effect of pain in pediatric inherited neuropathies Therapeutic 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

Q22000603-3CD64E1D-3EC0-4E94-A214-1E66DC175932 Q24187132-DC3EE1B9-B71D-46D3-B12A-6021F415E27C Q24303372-1F42DF77-6A52-4DA6-97E5-B8BA1464CE07 Q26768401-642DD2BB-9D7A-40F8-A86B-A06AD9DDA2AA Q27012700-9C822C9A-C52F-44CA-8018-DBFB5918A491 Q27304823-CCBAFB30-C0A8-443A-8E00-CF5CA6D1AE92 Q28115494-D1599CA8-7838-42AD-8698-7D1D35F13230 Q30301300-FA0EAB4D-0790-414A-BF36-33AC2D2DFD3E Q31019878-FE443D3A-313C-49EB-826C-37DFEF6D26E2 Q33622527-352E8435-A633-4E58-9450-F3EE636C799A Q34465428-6D71B4D1-3D87-49E2-9C5C-CA48907B99FF Q35079758-299C6F58-C126-407B-89C9-91034D7B95F6 Q35795032-1D2857C9-701F-45B4-B308-1A202D7E4EFE Q35891892-0E4CD03F-3E8E-49B8-B7AF-EC39226BE728 Q35892764-C344E140-F15B-4EC0-BB04-B651E8C85835 Q35963729-7C896FA7-FD6C-4503-A4AB-6A2B173DCD8D Q36251291-49220DAA-9852-4B94-A020-BDCF6E97343C Q36276587-76BB30C0-5098-44EB-980E-E791625259F0 Q36331440-77E4E54A-DD39-4ABF-A0E9-196DA0EAFA45 Q36390813-A29B95B9-EA42-4796-BA00-B379EE79038B Q36475272-AD968F6A-435A-41B8-9A8A-B2DF2E24E821 Q36662116-6C69276A-2DB3-421C-9826-4631A6FD9C64 Q36717951-EEF95E74-C3E7-4074-8AAB-447E3F6571F3 Q36776172-4EFEA2B1-BE90-4276-A9A5-1FB2B45BF39A Q36927111-8A16C355-C49E-4195-8E17-2FA83609780D Q37021766-3557F4B4-C74E-4160-8E70-1ADB65A48C06 Q37027169-02CCB823-97FC-4060-8EE6-B51A7EC02E42 Q37035933-0DD491C9-3D0F-4567-9B73-80B4A6AB005A Q37078644-50936BCB-F300-4982-9A41-4534A30A21DB Q37118241-0E4EB556-042B-40C0-AB07-F737D0CD3A03 Q37345462-0AD22FCB-6C09-49CD-9AE0-94E670B6CFB2 Q37399564-E83EC2C8-24B1-4B05-BA43-238DA8580DAB Q37441596-02CCFE25-A6AE-4908-88FB-A331791BEEDD Q37623195-2420A6DF-3EAC-48FD-BB36-8D73E67C5531 Q38363677-5186BB9B-B53F-4CE5-AADA-606C92E23EFD Q38372818-110C007D-341E-499A-8C19-8A4AEC49E9F3 Q38417354-F388178B-9B05-4C79-AB42-8BA4EE8282FA Q38746997-C68928B5-CAE1-4D86-82D6-BCF7B1B8E5E5 Q38787523-0C9C1E6F-18B4-4EB8-8374-E1EA59C204AA Q38815015-8B0724D9-9841-4624-B25F-F1C66E6504DE

P2860

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

http://www.wikidata.org/entity/Q30543772

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

P1433

Q30543772-4A74BF96-AD2C-47B7-8F4A-E59EB2B21F6D

P1476

Q30543772-D79559DB-64CB-4820-B7EE-FB0354387CB4

P2093

Q30543772-016DAEDD-949F-41C8-8C52-2DE087F6C811

Q30543772-0905B2F5-42D9-4C04-8331-155DE0D0BE35

Q30543772-3DAF63FC-1E40-485C-A5D8-62C91647FDC6

Q30543772-69E45FFC-CED3-4AC0-A2DD-B6BC98890AD7

Q30543772-90A3EDAA-162E-4285-A29B-443899E3180C

Q30543772-E1F0241F-91B7-4D98-B2C2-C1D5020BDE14

Q30543772-E6F33A5F-C551-4D0B-9AE8-4C39F9195B79

P2860

Q30543772-30D7FE8D-D4E0-4CB1-A8CB-48F9215E29D8

Q30543772-32AEB863-43AF-440B-B2E4-976535E013F8

Q30543772-34A28334-0C04-4EB7-98E9-A14D653FD96B

Q30543772-7346D904-7F2D-4712-9A5B-16BD7E68751D

Q30543772-84A98F6E-54E9-4F87-8C37-62DC6940F9EC

Q30543772-95A5059E-AC1F-40A8-8226-40984442F753

Q30543772-9F218A2D-388F-49B9-B8FD-183F80E9779F

Q30543772-A11ED7BF-AF79-4772-A6FD-2E1745CDB4F6

Q30543772-B59C5FDE-B9C2-4434-8958-B61CEF162AD7

Q30543772-C79E927B-0BCC-4301-B974-523701B221C1

P304

Q30543772-16022930-7BCB-4271-ACEC-E569F1884928

P31

Q30543772-82F035B2-30B6-4B71-9329-2D6A1B282285

P356

Q30543772-EE43EA6A-B6D6-4B30-A208-BF8C105A7694

P433

Q30543772-999440B4-D30C-414E-8D15-3D0B996CC3EE

P478

Q30543772-1517F4B8-8AF3-45CB-957D-29C3F6FBAA81

P577

Q30543772-2CA91AA1-4661-44A8-A83A-3D5C59CDFFEA

P5875

Q30543772-85C3ECA6-BE33-4282-829D-E0B99569B1A3

P698

Q30543772-4691A88C-D3F5-4CB9-9327-7AF9AA4A03A9

P932

Q30543772-C9543AF0-E81A-4D02-AEB2-7ECFE6680D41

P356

J.1529-8027.2011.00350.X

P1433

Journal of the Peripheral Nervous System

P1476

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

@en

P2093

David N Herrmann

http://www.w3.org/2001/XMLSchema#string

Davide Pareyson

http://www.w3.org/2001/XMLSchema#string

Mary M Reilly

http://www.w3.org/2001/XMLSchema#string

Michael E Shy

http://www.w3.org/2001/XMLSchema#string

Michael P McDermott

http://www.w3.org/2001/XMLSchema#string

Sinéad M Murphy

http://www.w3.org/2001/XMLSchema#string

Steven S Scherer

http://www.w3.org/2001/XMLSchema#string

P2860

Intraclass correlations: uses in assessing rater reliability

Body sway and vibration perception thresholds in normal aging and in patients with polyneuropathy

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

Compound muscle action potential and motor function in children with spinal muscular atrophy.

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.

Measuring vibration threshold with a graduated tuning fork in normal aging and in patients with polyneuropathy. European Inflammatory Neuropathy Cause and Treatment (INCAT) group.

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review.

Repeatability of nerve conduction measurements derived entirely by computer methods.

Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial.

The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study.

P304

191-198

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/J.1529-8027.2011.00350.X

http://www.w3.org/2001/XMLSchema#string

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

16

http://www.w3.org/2001/XMLSchema#string

P577

2011-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

51720582

http://www.w3.org/2001/XMLSchema#string

P698

22003934

http://www.w3.org/2001/XMLSchema#string

P932

3754828

http://www.w3.org/2001/XMLSchema#string