Charcot-Marie-Tooth: From Molecules to Therapy

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)

(2019) Thomas Prukop et al.   PLoS One

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art

(2019) Kordelia Barbullushi et al.   MOLECULAR NEUROBIOLOGY

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

(2019) Justine Lerat et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

(2019) Natasa Schiza et al.   BRAIN

HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease

(2018) Veronick Benoy et al.   BRAIN

AAV1.NT-3 gene therapy increases muscle fiber diameter through activation of mTOR pathway and metabolic remodeling in a CMT mouse model

(2018) Mehmet E. Yalvac et al.   GENE THERAPY

Intrathecal gene therapy in mouse models expressing CMT1X mutations

(2018) A Kagiava et al.   HUMAN MOLECULAR GENETICS

Locally acting ACE-083 increases muscle volume in healthy volunteers

(2018) Chad E. Glasser et al.   MUSCLE & NERVE

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

(2018) Merrill D. Benson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A

(2018) Agostinho G. Rocha et al.   SCIENCE

Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs

(2018) Lei Shi et al.   Stem Cell Reports

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B

(2018) Yunhong Bai et al.   Annals of Clinical and Translational Neurology

Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A

(2018) Saeyoung Park et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

(2018) R. Fledrich et al.   Nature Communications

Enhanced axonal Neuregulin-1 type-III signaling ameliorates neurophysiology and hypomyelination in a Charcot-Marie-Tooth type 1B mouse model

(2018) Cristina Scapin et al.   HUMAN MOLECULAR GENETICS

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

(2018) Juliette Bacquet et al.   BMJ Open

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X

(2017) Styliana Kyriakoudi et al.   HUMAN MOLECULAR GENETICS

Stem Cell Transplantation for Peripheral Nerve Regeneration: Current Options and Opportunities

(2017) Liangfu Jiang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

(2017) Hien Tran Zhao et al.   JOURNAL OF CLINICAL INVESTIGATION

X-linked Charcot–Marie–Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness

(2017) Jin Kyu Kim et al.   MEDICINE

Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo

(2017) Ji-Su Lee et al.   NEUROBIOLOGY OF DISEASE

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT

(2017) Pedro J. Tomaselli et al.   NEUROLOGY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study

(2017) Kirsten L. Knak et al.   Brain and Behavior

Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies

(2017) Mansour Haidar et al.   Frontiers in Molecular Neuroscience

Chaperone Proteins in the Central Nervous System and Peripheral Nervous System after Nerve Injury

(2017) Shalina S. Ousman et al.   Frontiers in Neuroscience

Caveats in the Established Understanding of CMT1A

(2017) Jun Li   Annals of Clinical and Translational Neurology

Recent advances in the genetic neuropathies

(2016) Alexander M. Rossor et al.   CURRENT OPINION IN NEUROLOGY

Niacin‐mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination

(2016) Alessandra Bolino et al.   EMBO Molecular Medicine

Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

(2016)   MOLECULES AND CELLS

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

(2016) Lidiane Carine Lima Santos Barreto et al.   NEUROEPIDEMIOLOGY

Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot–Marie–Tooth Disease

(2016) Veronick Benoy et al.   Neurotherapeutics

Erratum to: CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

(2016) Saleh Mones et al.   Orphanet Journal of Rare Diseases

Erratum to: 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

(2016) Shahram Attarian et al.   Orphanet Journal of Rare Diseases

Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?

(2016) Friederike Werheid et al.   Brain and Behavior

IntraneuralGJB1gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease

(2015) Irene Sargiannidou et al.   ANNALS OF NEUROLOGY

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

(2015) Nivedita U. Jerath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot–Marie–Tooth disease in mice

(2015) Dennis Klein et al.   BRAIN

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

(2015) S. Rudnik-Schöneborn et al.   CLINICAL GENETICS

Tremor in Charcot-Marie-Tooth disease: No evidence of cerebellar dysfunction

(2015) Tabish A. Saifee et al.   CLINICAL NEUROPHYSIOLOGY

Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit

(2015) I. Das et al.   SCIENCE

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

(2014) G Piscosquito et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A

(2014) Robert Fledrich et al.   NATURE MEDICINE

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

(2014) Shahram Attarian et al.   Orphanet Journal of Rare Diseases

Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy

(2014) Ilya Chumakov et al.   Orphanet Journal of Rare Diseases

Charcot-Marie-Tooth Disease Type 2A

(2014) Francesco Bombelli et al.   JAMA Neurology

CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene

(2014) Saleh Mones et al.   Frontiers in Neuroscience

Ascorbic Acid and Sodium-Dependent Vitamin C Transporters in the Peripheral Nervous System: From Basic Science to Clinical Trials

(2013) Burkhard Gess et al.   ANTIOXIDANTS & REDOX SIGNALING

CaMKII  Regulates Oligodendrocyte Maturation and CNS Myelination

(2013) C. T. Waggener et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Zarife Sahenk et al.   MOLECULAR THERAPY

Recurrent central nervous system white matter changes in charcot-Marie-Tooth type X disease

(2013) Jennifer L. Mckinney et al.   MUSCLE & NERVE

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

(2013) Ellen Cottenie et al.   NEUROMUSCULAR DISORDERS

An anterior ankle-foot orthosis improves walking economy in Charcot–Marie–Tooth type 1A patients

(2013) Federica Menotti et al.   PROSTHETICS AND ORTHOTICS INTERNATIONAL

High-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A

(2013) Richard A. Lewis   JAMA Neurology

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice

(2012) Ágnes Patzkó et al.   BRAIN

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

(2012) Kleopas A. Kleopa et al.   BRAIN RESEARCH

Coenzyme Q10 Therapy in Hereditary Motor Sensory Neuropathy Type VI with Novel Mitofusin 2 Mutation

(2012) Ryoichi Takahashi et al.   INTERNAL MEDICINE

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

Health effects of dietary phospholipids

(2012) Daniela Küllenberg et al.   Lipids in Health and Disease

Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth Disease

(2012) Gita M. Ramdharry et al.   MUSCLE & NERVE

Assessment of Appropriate Ankle-Foot Orthoses Models for Patients with Charcot-Marie-Tooth Disease

(2011) Bastien Guillebastre et al.   AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION

Charcot-marie-tooth disease subtypes and genetic testing strategies

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

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

MFN2 mutations cause severe phenotypes in most patients with CMT2A

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

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation

(2011) Sinéad M. Murphy et al.   NEUROMUSCULAR DISORDERS

X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode

(2010) GEETHA ANAND et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genetic epidemiology of Charcot-Marie-Tooth in the general population

(2010) G. J. Braathen et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2010) D.- H. Chen et al.   NEUROLOGY

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

PMP22 expression in dermal nerve myelin from patients with CMT1A

(2009) I. Katona et al.   BRAIN

Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A

(2009) NIGEL S BAMFORD et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

(2009) A W Michell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The hypothesis of overwork weakness in Charcot-Marie-Tooth: A critical evaluation

(2009) M van Pomeren et al.   JOURNAL OF REHABILITATION 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

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

(2009) Guida Landouré et al.   NATURE GENETICS

Intermittent fasting alleviates the neuropathic phenotype in a mouse model of Charcot–Marie–Tooth disease

(2009) Irina Madorsky et al.   NEUROBIOLOGY OF DISEASE

Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF

(2009) Wanda Maria Gerding et al.   NEUROMUSCULAR DISORDERS

Mitochondrial Dynamics in Mammalian Health and Disease

(2009) Marc Liesa et al.   PHYSIOLOGICAL REVIEWS

Poor tolerability of high dose ascorbic acid in a population of genetically confirmed adult Charcot-Marie-Tooth 1A patients

(2008) C. Toth   ACTA NEUROLOGICA SCANDINAVICA