Pending

Myelination of peripheral nerves is controlled by PI4KB through regulation of Schwann cell Golgi function.
Fibulin 5, a human Wharton’s jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.
Sacroiliac Joint Manipulation Effect in Chronic Piriformis Syndrome.
Efficacy of Electroacupuncture in Carpal Tunnel Syndrome
CMT4J, parkinsonism and a new FIG4 mutation.
StatPearls
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study.
Charcot-Marie-Tooth Disease Type 4J with spastic quadriplegia, epilepsy and global developmental delay: A tale of three siblings.
Central nervous system impairment detected by somatosensory evoked potentials in patients with Charcot-Marie-Tooth disease type 1A.
Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
Teaching NeuroImages: Hypertrophic polyneuropathy.
Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
People with Charcot-Marie-Tooth disease and COVID-19: impaired physical conditions due to the lockdown. An International cross-sectional survey.
Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
CIDP, CMT1B, or CMT1B plus CIDP?
Graston vs Manual Myofascial Release Technique in Piriformis Syndrome.
Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mechanostat.
The Noninvasive Diagnostic Value of MRN for CIDP: A Research from Qualitative to Quantitative.
Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study.
Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
Cavitating leukodystrophy as a manifestation of cerebral involvement in MFN2 neuropathy.
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase.
StatPearls
Charcot-Marie-Tooth disease Type 1A: Longitudinal change in nerve ultrasound parameters.
Diffuse brain connectivity changes in Charcot-Marie-tooth type 1A patients: A resting-state functional MRI study.
Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.
Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry.
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement.
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
A Novel Duplication Mutation in the Myelin Protein Zero Gene Causing Mild, Nonprogressive Demyelinating Neuropathy.
Vestibular impairment in Charcot-Marie-Tooth disease.
A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.
Presence of colocalised phosphorylated TDP-43 and TFG proteins in the frontotemporal lobes of HMSN-P.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
Midazolam Versus Dexamethasone as an Adjuvant to Local Anesthetics in the Ultrasound Guided Hydrodissection of Median Nerve for Treatment of Carpal Tunnel Syndrome Patients
Acute and chronic neuropathies.
Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties.
Myelination and node of Ranvier formation in a human motoneuron – Schwann cell serum-free co-culture.
Correction: Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’.
Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.
Assessing non-Mendelian inheritance in inherited axonopathies.
Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases.
Mitofusin 2 Dysfunction and Disease in Mice and Men.
Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.
Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy.
Satisfaction with Ankle Foot Orthoses in Individuals with Charcot-Marie-Tooth.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation.
Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by charcot-marie-tooth disease. A retrospective study.
Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis.
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.
StatPearls
Lessons from late onset Charcot-Marie-Tooth disease.
COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.
C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
Vagus Nerve Ultrasound in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Charcot-Marie-Tooth Disease Type 1A.
Confounding clinical presentation and different disease progression in CMT4B1.
A video protocol for rapid dissection of mouse dorsal root ganglia from defined spinal levels.
A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases.
Telocytes in the Normal and Pathological Peripheral Nervous System.
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
Early-onset cerebellar ataxia in a patient with CMT2A2.
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Massage therapy treatment and outcomes in a patient with Charcot-Marie-Tooth disease: A case report.
An adapted dance program for children with Charcot-Marie-Tooth disease: An exploratory study.
Pes cavovarus in Charcot-Marie-Tooth compared to the idiopathic cavovarus foot: A preliminary weightbearing CT analysis.
Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI).
Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
StatPearls
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.
A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease.
Psychoacoustics and neurophysiological auditory processing in patients with Charcot-Marie-Tooth disease types 1A and 2A.
BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT.
The formin INF2 in disease: progress from 10 years of research.
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
Optic Neuropathy in Charcot-Marie-Tooth Disease.
From the Archives Muscular atrophy, after measles, in three members of a family. By J.A. Ormerod, M.D. Brain (October) 1884; 7 (part XXVII): 334-342; with The peroneal type of progressive muscular atrophy. By Howard H. Tooth, M.A, M.D., M.R.C.P (H.K Lewis, London). 1886; pages 44: with Critical Digests. Recent observations on progressive muscular atrophy. By H. H. Tooth, M.D. Brain (July) 1887; 10 (part XXXVIII): 243-253; with The peroneal form or leg-type of progressive muscular atrophy. By B. Sachs, M.D. (New York). Professor of Mental and Nervous Diseases in the New York Polyclinic, Brain 1890; 12: 447-459.
A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Living with a disability during the pandemic. “Instant paper from the field” on rehabilitation answers to the COVID-19 emergency.
Graston Technique in Deep Gluteal Syndrome
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.

Validation of the Italian Version of the Charcot-Marie-Tooth disease Pediatric Scale.
Quantitative assessment of sciatic nerve changes in CMT1A patients using magnetic resonance neurography.
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism: a rare opportunity for treatment of CMT
Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.
[Research advance of underlying pathogenesis and target therapies in Charcot-Marie-Tooth disease type 1A].
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome.
Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.
The Undiagnosed Patient in Christina’s World.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment.
Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study.
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
StatPearls
Mutations in HspB1 and hereditary neuropathies.
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans.
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
Self-reported physical activity in people with limb-girdle muscular dystrophy and Charcot-Marie-Tooth disease in Norway.
Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
Closed arthrodesis in infected neuropathic ankles using Ilizarov ring fixation.
EARLY ONSET DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE CAUSED BY A NOVEL IN-FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2.
Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients.
Segmental Nerve Enlargement in CMT4J.
The MICOS complex, a structural element of mitochondria with versatile functions.
[Hereditary Polyneuropathies].
Charcot neuroarthropathy of the knee due to idiopathic sensory peripheral neuropathy.
Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy.
A recessive Trim2 mutation causes an axonal neuropathy in mice.
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
Acquired Expression of Mutant Mitofusin 2 Causes Progressive Neurodegeneration and Abnormal Behavior.
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.
Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.
Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan.
Prevalence and significance of cranial nerve imaging abnormalities in patients with hereditary neuropathies: Clinical implications at the skull base.
Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
Proteome profile of peripheral myelin in healthy mice and in a neuropathy model.
Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A.
CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.
Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
Strokelike Episodes in a Patient With Chronic Gait Abnormalities.
Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.
The clinical spectrum of BICD2 mutations.
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1.
Ring-shaped subpulmonic infundibular membrane diagnosed in an adult affected by type II Charcot-Marie-Tooth disease.
The properties of human Schwann cells: Lessons from in vitro culture and transplantation studies.
Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.
GJB1 Mutation-A Disease Spectrum: Report of Case Series.
Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy.
Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes.
Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study.
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
Fat fraction distribution in lower limb muscles of patients with CMT1A: A quantitative MRI study.
Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation.
Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition.
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
7T magnetic resonance neurography-ultrasound fusion for peripheral nerve imaging.
Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis.
Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.
BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
Living With Charcot-Marie-Tooth, Charlie, and Change.
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Urodynamic findings in Charcot-Marie-Tooth patients with lower urinary tract symptoms.
Atypical Pediatric Demyelinating Diseases of the Central Nervous System.
Eye movements in demyelinating, autoimmune and metabolic disorders.
Structures and Molecular Composition of Schmidt-Lanterman Incisures.
Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.
Plasticity in salt bridge allows fusion-competent ubiquitylation of mitofusins and Cdc48 recognition.
Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis.
Analysis of spinal muscular atrophy-like patients by targeted resequencing.
Neuropathic pain in patients with Charcot-Marie-Tooth type 1A.
Human tridimensional neuronal cultures for phenotypic drug screening in inherited peripheral neuropathies.
Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene.
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Insights Into The Pathogenesis Of Atp1a1-Related Cmt Disease Using Patient-Specific Ipscs.
Peripheral nerve magnetic resonance imaging.
Patient-Ventilator Asynchronies during Polysomnography.
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.
Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Posturography-Neuropathy

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
Soft tissue release combined with joint-sparing osteotomy for treatment of cavovarus foot deformity in older children: Analysis of 21 cases.
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Gabrielle Lévy and the Roussy-Lévy syndrome.
Severe cognitive impairment in a patient with CMT2A.
Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.
Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy.
The Charcot-Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress.
Unfolded protein response in myelin disorders.
Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila.
Anesthesia in a patient with Charcot-Marie-Tooth disease with pneumothorax: a case report.
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.
A recurrent GARS mutation causes distal hereditary motor neuropathy.
Widening the phenotypical spectrum of EGR2-related CMT: Unusual phenotype for R409W mutation.
Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway.
Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.
Defects in Axonal Transport in Inherited Neuropathies.
Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication.
A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation.
Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
[Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].
Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system.
Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.
Quantification of Mitochondrial Network Characteristics in Health and Disease.
Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.
Respiratory System, Sleep Quality, Restless Leg Syndrome, and Depression-Anxiety Assessment in Charcot Marie Tooth Disease.
Treadmill training in people affected by Charcot-Marie-Tooth (CMT) neuropathy: results of a multicenter, prospective, randomized, single blind, controlled study.
Clinical Reasoning: Pes cavus and neuropathy: Think beyond Charcot-Marie-Tooth disease.
Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes.
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype.
The expanding spectrum of neurological disorders of phosphoinositide metabolism.
Old but Gold: Tracking the New Guise of Histone Deacetylase 6 (HDAC6) Enzyme as a Biomarker and Therapeutic Target in Rare Diseases.
CNTNAP1 Mutations in an Adult with Charcot Marie Tooth Disease.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A.
A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice
Acute neurotoxicity following vincristine due to Charcot-Marie-Tooth disease in a young child with medulloblastoma.
Knowing When to Let Go: Lysosomes Regulate Inter-Mitochondrial Tethering.
Intraobserver and interobserver reliability of cone beam weightbearing semi-automatic three-dimensional measurements in symptomatic pes cavovarus.
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
How secret conversations inside cells are transforming biology.
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Membrane metallo-endopeptidase is dispensable for repair after nerve injury.
Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits.
[A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Clinical neurophysiology of demyelinating polyneuropathy.
Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging.
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family.
Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.
Tracking Pain in Resting State Networks in Patients with Hereditary and Diabetic Neuropathy.
Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy.
X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
Disorders of mitochondrial dynamics in peripheral neuropathy: Clues from hereditary neuropathy and diabetes.
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties.
Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study.
Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail.
Development of an Ankle-Foot Orthosis That Provides Support for Flaccid Paretic Plantarflexor and Dorsiflexor Muscles.
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid