CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Published 2014 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Authors
Keywords
-
Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 86, Issue 8, Pages 873-878
Publisher
BMJ
Online
2014-11-28
DOI
10.1136/jnnp-2014-308826
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis
- (2014) Reza Sadjadi et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Genetic testing practices for Charcot-Marie-Tooth type 1A disease
- (2013) Renee Tousignant et al. MUSCLE & NERVE
- Clinical implications of genetic advances in Charcot–Marie–Tooth disease
- (2013) Alexander M. Rossor et al. Nature Reviews Neurology
- Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
- (2013) R. Sivera et al. NEUROLOGY
- Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population
- (2013) Burkhard Gess et al. NEUROMUSCULAR DISORDERS
- High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A
- (2013) Richard A. Lewis JAMA Neurology
- Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability
- (2012) Joshua Burns et al. ANNALS OF NEUROLOGY
- Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
- (2012) Sinead M Murphy et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- X-linked Charcot-Marie-Tooth disease
- (2012) Steven S. Scherer et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients
- (2011) G Karadima et al. CLINICAL GENETICS
- Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan
- (2011) Akiko Abe et al. JOURNAL OF HUMAN GENETICS
- Phenotype expression in women with CMT1X
- (2011) Carly E. Siskind et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
- (2011) Sinéad M. Murphy et al. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
- Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
- (2011) Davide Pareyson et al. LANCET NEUROLOGY
- MFN2 mutations cause severe phenotypes in most patients with CMT2A
- (2011) S. M. E. Feely et al. NEUROLOGY
- Genetic and clinical aspects of Charcot-Marie-Tooth's disease
- (2010) H. Skre CLINICAL GENETICS
- Genetic epidemiology of Charcot-Marie-Tooth in the general population
- (2010) G. J. Braathen et al. EUROPEAN JOURNAL OF NEUROLOGY
- La maladie de Charcot-Marie-Tooth
- (2009) Nazha Birouk PRESSE MEDICALE
- Neuropathy progression in Charcot-Marie-Tooth disease type 1A
- (2008) M. E. Shy et al. NEUROLOGY
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started