Charcot-Marie-Tooth disease and pathways to molecular based therapies

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

(2014) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations

(2013) Rachel C Wallen et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Curcumin facilitates a transitory cellular stress response in Trembler-J mice

(2013) Y. Okamoto et al.   HUMAN MOLECULAR GENETICS

Heterogeneity in the properties of NEFL mutants causing Charcot–Marie–Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol

(2013) Benoit J. Gentil et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

Defective Axonal Transport of Rab7 GTPase Results in Dysregulated Trophic Signaling

(2013) K. Zhang et al.   JOURNAL OF NEUROSCIENCE

AAV1.NT-3 Gene Therapy for Charcot–Marie–Tooth Neuropathy

(2013) Zarife Sahenk et al.   MOLECULAR THERAPY

The shifting landscape of genetic testing for Charcot-Marie-Tooth disease

(2013) John D. England   MUSCLE & NERVE

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

Inherited Peripheral Neuropathies

(2013) Mario A. Saporta et al.   NEUROLOGIC CLINICS

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Whither Hope for Pharmacological Treatment of Charcot-Marie-Tooth Disease Type 1A?

(2013) Pragna I. Patel et al.   JAMA Neurology

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

(2012) Carlo Rinaldi 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

Dynamin 2 mutations in Charcot–Marie–Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination

(2012) Páris N. M. Sidiropoulos et al.   BRAIN

Molecular basis of axonal dysfunction and traffic impairments in CMT

(2012) Benoit J. Gentil et al.   BRAIN RESEARCH BULLETIN

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

(2012) T Sevilla et al.   CLINICAL GENETICS

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Charcot-Marie-Tooth disease: Emerging mechanisms and therapies

(2012) Constantin d’Ydewalle et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication

(2012) Young Hwa Kim et al.   Journal of Clinical 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

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

(2012) Anne Vital et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease

(2011) Meiko Hashimoto Maeda et al.   ANNALS OF NEUROLOGY

SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

(2011) Claudia Stendel et al.   BRAIN

High frequency of SH3TC2 mutations in Czech HMSN I patients

(2011) P Laššuthová et al.   CLINICAL GENETICS

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

(2011) Helle Høyer et al.   European Journal of Medical Genetics

Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

(2011) L. Almeida-Souza et al.   JOURNAL OF NEUROSCIENCE

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

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

(2011) J. Cassereau et al.   NEUROLOGY

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

(2011) C. J. Klein et al.   NEUROLOGY

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

(2010) Philippe Latour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

(2010) Heather M. McLaughlin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

(2010) C. Crimella et al.   JOURNAL OF MEDICAL GENETICS

Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex

(2010) A. Misko et al.   JOURNAL OF NEUROSCIENCE

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease

(2010) Rafael Sivera et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Coexistence of two chronic neuropathies in a young child: Charcot-marie-tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy

(2010) Wilson Marques et al.   MUSCLE & NERVE

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

(2010) D.- H. Chen et al.   NEUROLOGY

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

(2009) Camiel Verhamme et al.   BMC Medicine

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

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

Charcot-Marie-Tooth (CMT) Disease 1A with Superimposed Inflammatory Polyneuropathy in Children

(2009) A. Desurkar et al.   NEUROPEDIATRICS

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

(2008) J. D. England et al.   NEUROLOGY

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

(2008) J. D. England et al.   NEUROLOGY

Ablation of the UPR-Mediator CHOP Restores Motor Function and Reduces Demyelination in Charcot-Marie-Tooth 1B Mice

(2008) Maria Pennuto et al.   NEURON