Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report.

Spastin Is Required to Prevent SPAST-Related Demyelination.

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

White Matter Microstructural Correlates of Auditory Brainstem Responses in Patients With Charcot-Marie-Tooth Disease.

Charcot-Marie-Tooth disease and related neuropathies.

[Genetic variant analysis in patients with autosomal recessive demyelinating Charcot-Marie-Tooth disease].

Aberrant Complement Activation Is a Prominent Feature of Chronic Inflammatory Demyelinating Polyneuropathy.

Phenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation.

Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.

Aberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.

[A case of neuronal intranuclear inclusion disease presenting with leukoencephalopathy after the diagnosis of Charcot-Marie-Tooth disease type 4C].

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

Hereditary Motor and Sensory Neuropathies (HMSNs) With Conduction Block.

PMP22-Related Neuropathies: A Systematic Review.

Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.

A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy.

Novel GNB4 Gene Variant and the Spectrum of GNB4 Variants in Patients With Charcot-Marie-Tooth Disease.

A systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.

Multidimensional evaluation of clinical and functional impairment in a large population of patients with Charcot-Marie-Tooth.

Statistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease.

Comparison of the presentation and electrophysiological characteristics of autoimmune nodopathies in patients with antibody-negative CIDP and CMT1.

[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].

Ocular Surface Changes Associated with Neurological Diseases.

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

SARM1 Inhibition in Three Mouse Models of Charcot-Marie-Tooth Disease.

KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.

Macrophage Targeting Protects Nerve Structure and Improves Muscle Innervation in a Mouse Model of Charcot-Marie-Tooth 2J.

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

GDAP1-Related Charcot-Marie-Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?

Clinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy.

Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.

Plasma periaxin is a biomarker of peripheral nerve demyelination.

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration.

First Iranian Family with a Novel Missense Variant in MYO9B Gene Causing Charcot-Marie-Tooth Disease.

Video head impulse test findings in patients with peripheral myelin protein 22 related neuropathies.

Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.

Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration.

Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.

A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.

Guillain-Barré syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association.

A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.

A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.

Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene.

Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.

Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.

Two novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.

[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].

Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.

Talar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.

Charcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione production.

Phosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A.

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.

Schwann Cells in Neuromuscular Disorders: A Spotlight on Amyotrophic Lateral Sclerosis.

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.

Co-Existent Central and Peripheral Demyelination: Related or Coincidental?

Charcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report.

A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.

How hidden is hidden hearing loss? Self-reported listening problems in charcot Marie tooth disease.

A Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barré Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies.

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

Synergistic effect of Wharton's jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.

Axon demyelination and degeneration in a zebrafish spastizin model of hereditary spastic paraplegia.

Postural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies.

Monitoring Myelin Lipid Composition and the Structure of Myelinated Fibers Reveals a Maturation Delay in CMT1A.

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.

The recovery cycle of excitability assessed by a conventional electrodiagnostic machine: A study in healthy volunteers and in Charcot-Marie-Tooth 1A patients.

Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model.

Loss of YAP in Schwann cells improves HNPP pathophysiology.

Charcot-Marie-Tooth Disease and Hearing Loss: A Systematic Review With Meta-Analysis.

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Acute-Onset Quadriplegia Presenting With Hyperreflexia: A Dilemma in Diagnosis.

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.

Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy.

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.

[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].

Testing SIPA1L2 as a modifier of CMT1A using mouse models.

Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.

Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.

A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

Prognostic value of neurofilament light in blood in patients with polyneuropathy: A systematic review.

Outcome of Neuromuscular Electrodiagnostic Testing in Children.

Clinical Worsening of Charcot-Marie-Tooth Disease Due to Overlapping Acute Inflammatory Polyneuropathy.

ARL6IP1 gene delivery reduces neuroinflammation and neurodegenerative pathology in hereditary spastic paraplegia model.

Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

High-dose pharmaceutical-grade biotin in patients with demyelinating neuropathies: a phase 2b open label, uncontrolled, pilot study.

Nitrous-oxide-induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies.

Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.

Hereditary Neuropathy With Liability to Pressure Palsy Detected During the Use of Recreational Drugs.

Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero.

Safety of anti-IL-23 risankizumab treatment in a patient with severe psoriasis and Charcot-Marie-Tooth disease.

AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.

A novel HSPB1S139F mouse model of Charcot-Marie-Tooth Disease.

Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.

Advanced Structural Magnetic Resonance Imaging of the Spinal Cord: Technical Aspects and Clinical Use.

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

On the path to evidence-based therapy in neuromuscular disorders.

Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot-Marie-Tooth disease: a real-practice retrospective study.

Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.

Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.

Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.

Differentiating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyradiculoneuropathy: neurophysiology is not the only clue.

Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.

TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A.

Conserved intramolecular networks in GDAP1 are closely connected to CMT-linked mutations and protein stability.

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy.

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Neural cell adhesion molecule 1 is a cellular target engaged plasma biomarker in demyelinating Charcot-Marie-Tooth disease.

A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.

The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1.

An Unusual Case of Hereditary Neuropathy With Liability to Pressure Palsy: A Diagnostic Challenge.

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.

Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model.

Heterogeneous Presentation of Hereditary Neuropathy With Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients.

Compound muscle action potential duration ratio for differentiation between Charcot-Marie-Tooth disease and CIDP.

A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.

A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.

Young infants with PMP22 duplication can have minor nerve conduction study abnormalities.

Recording cutaneous silent period parameters in hereditary and acquired neuropathies.

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report.

A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report.

Implantable Electroceutical Approach Improves Myelination by Restoring Membrane Integrity in a Mouse Model of Peripheral Demyelinating Neuropathy.

Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease.

Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.

COVID-19 Vaccine-Induced Parsonage-Turner Syndrome: A Case Report and Literature Review.

EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study.

Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.

Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease.

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.

Blood biomarkers of peripheral neuropathy.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Effective treatment of advanced Hodgkin lymphoma with a modified BEACOPP regimen for a patient with demyelinating hereditary motor and sensory neuropathy type 1 (HMSN1).

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.

Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathy.

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

Curcumin and Ethanol Effects in Trembler-J Schwann Cell Culture.

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.

The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase.

HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model.

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.

Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population.

A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.

SARM1 knockout does not rescue neuromuscular phenotypes in a Charcot-Marie-Tooth disease Type 1A mouse model.

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.

Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: A retrospective study using primary care data.

Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A.

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study.

White Matter Alterations in Spastic Paraplegia Type 5: A Multiparametric Structural MRI Study and Correlations with Biochemical Measurements.

Mechanisms and Treatments in Demyelinating CMT.

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.

New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies.

Clemastine improves electrophysiologic and histomorphometric changes through promoting myelin repair in a murine model of compression neuropathy.

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.

Case Report: Oculomotor Palsy With Cyclic Spasms in a Patient With Charcot-Marie-Tooth Disease Type 1.

[An 18-year-old man of hereditary neuropathy with liability to pressure palsies presenting with bilateral brachial plexopathy during military training].

Nerve pathology in animal models of neuropathies.

Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A.

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Wrestling and Wrapping: A Perspective on SUMO Proteins in Schwann Cells.

Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene.