- Home
- Publications
- Publication Search
- Publication Details
Title
Recent advances in Charcot–Marie–Tooth disease
Authors
Keywords
-
Journal
CURRENT OPINION IN NEUROLOGY
Volume 27, Issue 5, Pages 532-540
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2014-08-08
DOI
10.1097/wco.0000000000000131
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Progesterone Antagonist Therapy in a Pelizaeus-Merzbacher Mouse Model
- (2014) Thomas Prukop et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
- (2014) Uwe Kornak et al. BRAIN
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
- (2014) Maria Schabhüttl et al. JOURNAL OF NEUROLOGY
- Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
- (2014) S. Baulac et al. NEUROLOGY
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
- (2014) Vincent Timmerman et al. Genes
- Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
- (2013) Philippe M. Campeau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease
- (2013) Bing-Wen Soong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease
- (2013) Hamid Azzedine et al. HUMAN MOLECULAR GENETICS
- A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
- (2013) M. L. Kennerson et al. HUMAN MOLECULAR GENETICS
- Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy
- (2013) E. Ylikallio et al. HUMAN MOLECULAR GENETICS
- Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
- (2013) Michael Gonzalez et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease
- (2013) Joshua Burns 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
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
- (2013) K. Nakhro et al. NEUROLOGY
- De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
- (2013) I. Mademan et al. NEUROLOGY
- DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss
- (2013) C. J. Klein et al. NEUROLOGY
- Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
- (2013) C. Beetz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A
- (2013) Richard A. Lewis JAMA Neurology
- A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
- (2012) Wang-yang Xu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
- (2012) Carlo Rinaldi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
- (2012) Hiroyuki Ishiura et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
- (2012) Ágnes Patzkó et al. BRAIN
- Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias
- (2012) Vincent Timmerman et al. EXPERIMENTAL NEUROLOGY
- A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo
- (2012) Aimée Vester et al. HUMAN MUTATION
- Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
- (2012) Magdalena Zimoń et al. NATURE GENETICS
- Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease
- (2012) R. D. S. Pitceathly et al. NEUROLOGY
- Charcot-marie-tooth disease subtypes and genetic testing strategies
- (2011) Anita S.D. Saporta et al. ANNALS OF NEUROLOGY
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family
- (2011) Gladys Montenegro et al. ANNALS OF NEUROLOGY
- Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
- (2011) Michaela Auer-Grumbach et al. BRAIN
- Inherited peripheral neuropathies: a myriad of genes and complex phenotypes
- (2011) J. Baets et al. BRAIN
- Genetic spectrum of hereditary neuropathies with onset in the first year of life
- (2011) J. Baets et al. BRAIN
- A rat model of Charcot–Marie–Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients
- (2011) Robert Fledrich et al. BRAIN
- 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
- HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease
- (2011) Constantin d'Ydewalle et al. NATURE MEDICINE
- The death panel for Charcot-Marie-Tooth panels
- (2010) Anthony A. Amato et al. ANNALS OF NEUROLOGY
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Utility of Charcot-Marie-Tooth Neuropathy Score in Children With Type 1A Disease
- (2010) Jana Haberlová et al. PEDIATRIC NEUROLOGY
- Report on a consecutive series of 581 children born after blastomere biopsy for preimplantation genetic diagnosis
- (2009) I. Liebaers et al. HUMAN REPRODUCTION
- Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
- (2009) Joshua Burns et al. LANCET NEUROLOGY
- Effect of ascorbic acid in patients with Charcot–Marie–Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial
- (2009) Joëlle Micallef et al. LANCET NEUROLOGY
- Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
- (2009) Davide Pareyson et al. LANCET NEUROLOGY
- Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)
- (2008) J.D. England et al. MUSCLE & NERVE
- Neuropathy progression in Charcot-Marie-Tooth disease type 1A
- (2008) M. E. Shy et al. NEUROLOGY
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now