Pending

GAN -Related Neurodegeneration
Electrodiagnostic Evaluation Of Peripheral Neuropathy
Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland
Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan
Wrestling and Wrapping: A Perspective on SUMO Proteins in Schwann Cells
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT
Minimal Invasive Carpal Tunnel Release With the Novel Device -Mini CTS Release- Can Offer Similar Outcomes to the Open Approach in Carpal Tunnel Syndrome.
Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons
Molecular epidemiology of hereditary ataxia in Finland
Mitofusin 2: the missing link between mtDNA maintenance defects and neurotransmitter disorders
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase
Tibial Cortex Transverse Distraction Followed by Open Correction with Internal Fixation for Management of Foot and Ankle Deformity with Ulcers
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Post Facilitation Stretch Versus Active Isolated Stretching Along With Deep Friction Massage in Wallet Sciatica.
Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes
Sonographic Measurement of Intraneural Blood Flow in the Median Nerve
Use of transcranial motor-evoked potentials to provide reliable intraoperative neuromonitoring for the Charcot-Marie-Tooth population undergoing spine deformity surgery
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report
Cardiopulmonary Exercise Performance and Factors Associated with Aerobic Capacity in Neuromuscular Diseases
Radiofrequency, Perineural Injection, Idiopathic Carpal Tunnel Syndrome
Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
CMT2CC associated with NEFH mutations: a predominantly motor neuronopathy
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Cutaneous Pain in Disorders Affecting Peripheral Nerves
HEREDITARY NEUROPATHIES, A PATHOLOGICAL PERSPECTIVE
Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study
Nerve pathology in animal models of neuropathies
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E
Tubular microdomains of Rab7-endosomes retrieve TrkA, a mechanism disrupted in Charcot-Marie-Tooth 2B
Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in
A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A
Early Changes in Skeletal Muscle of Young C22 Mice, A Model of Charcot-Marie-Tooth 1A
Pulsed Radiofrequency Versus Pulse Dose Pulsed Radiofrequency of the Pudendal Nerve in Patients With Pudendal Neuralgia
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines
Comprehensive Genetic Analysis of DGAT2 Mutations and Gene Expression Patterns in Human Cancers
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons
Identifying the Effects of Reactive Oxygen Species on Mitochondrial Dynamics and Cytoskeleton Stability in Dictyostelium discoideum
Strain-Counterstrain Treatment of Piriformis Pain
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
Genome-Edited Coincidence and PMP22-HiBiT Fusion Reporter Cell Lines Enable an Artifact-Suppressive Quantitative High-Throughput Screening Strategy for PMP22 Gene-Dosage Disorder Drug Discovery
The Effect of Centella Asiatica Cream on Scar Tenderness Who Underwent Open Carpal Tunnel Release Surgery
Management of flexible cavovarus foot in patients with Charcot-Marie-Tooth disease: Midterm results
Charcot Marie Tooth
Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response
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
Raising cGMP restores proteasome function and myelination in mice with a proteotoxic neuropathy
Drug repurposing shows promise for Charcot-Marie-Tooth disease
The Pathological Features of Common Hereditary Mitochondrial Dynamics Neuropathy
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants
Effect of Kinesiotaping and Night Splinting in Patients With Carpal Tunnel Syndome
Endosomal recycling tubule scission and integrin recycling involve the membrane curvature-supporting protein LITAF
Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene
GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
Unraveling the etiology of myelin disorders: the P2 case in Charcot-Marie-Tooth disease
Nanoscale Model System for the Human Myelin Sheath
Anaesthetic implications in patient with Charcot-Marie-Tooth disease
Formin3 directs dendritic architecture via microtubule regulation and is required for somatosensory nociceptive behavior
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations
Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
A Novel NAD Signaling Mechanism in Axon Degeneration and its Relationship to Innate Immunity
Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance
Adenine base editing to treat progeria syndrome and extend the lifespan
Quantitative assessment of muscle echogenicity in Charcot-Marie-Tooth disease type 1A by automatic thresholding methods
Effects of High Intensity Laser on Mechanical and Physiological Findings in Pregnant Women With Carpal Tunnel Syndrome
Effective therapeutic strategies in a pre-clinical mouse model of Charcot-Marie-tooth disease
First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece
Dexmedetomidine Versus Triamcinolone Treatment of Carpal Tunnel Syndrome
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from Central South China
Leukoencephalopathy and conduction blocks in PLEKHG5-associated intermediate CMT disease
Charcot-Marie-Tooth 4C and bilateral spinal dissection: causal or coincidental relationship?
PLEKHG5-related autosomal recessive lower motor neuron disease with dysmyelination in peripheral nerves
Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: a retrospective single-site study
Diseases caused by mutations in the Na+ /K+ pump α1 gene ATP1A1
Endosomal recycling tubule scission and integrin recycling involve the membrane curvature supporting protein LITAF
Correlates of night-time and exercise-associated lower limb cramps in healthy adults
High Intensity Laser Therapy in Carpal Tunnel Syndrome
Therapeutic Development in Charcot Marie Tooth Type 1 Disease
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Charcot-Marie-Tooth disease: genetic profile of patients from a large Brazilian neuromuscular reference center
Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease
A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease
Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1
Sibling Cases of Charcot-Marie-Tooth Disease Type 4H with a Homozygous FGD4 Mutation and Cauda Equina Thickening

Neglected Stiff Equinocavus Foot Deformity Treated with Cole Osteotomy, Combined with External Ilizarov Hinged Frame Fixation, Soft-Tissue Release, and Achilles Tendon Lengthening: A Case Report
Human myelin protein P2: From crystallography to time-lapse membrane imaging and neuropathy-associated variants
Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction
MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations
Dissection, in vivo imaging and analysis of the mouse epitrochleoanconeus muscle
Proximal Derotation Phalangeal Osteotomy for Medial First Toe Diabetic Ulcer
WALANT Procedure in Carpal Tunnel Release
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
Giant axonal neuropathy: cross sectional analysis of a large natural history cohort
Is Perfusion Index an Indicator of Block Success in Ultrasound-guided Infraclavicular Brachial Plexus Block
Two cases of DYNC1H1 mutations with intractable epilepsy
Revisiting the pathogenic mechanism of the GJB1 5′ UTR c.-103C > T mutation causing CMTX1
A Patient With Kearns Sayre Syndrome and Charcot-Marie-Tooth for Supraventricular Tachycardia Ablation: A Case Report
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy
Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: an international multicentric retrospective study
Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients
Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy
Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report
Neurologic Conditions Associated with Cavus Foot Deformity
SIRT2-knockdown rescues GARS-induced Charcot-Marie-Tooth neuropathy
Atypical inflammatory demyelinating syndrome with central and peripheral nerve involvement
Prevalence and characterization of pain in patients with Charcot-Marie-Tooth disease type 1A
Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
Interventions for promoting physical activity in people with neuromuscular disease
Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Pes Cavus
Genetics, X-Linked Inheritance
The Longitudinal Early-onset Alzheimer’s Disease Study (LEADS): Framework and methodology
The Effect of ESWT in Carpal Tunnel Syndrome
Non-drug therapies for the secondary prevention of lower limb muscle cramps
The Silent Mutation
Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of Charcot-Marie-Tooth disease 4F with a D651N mutation in the periaxin gene
Prevalence Study of Amyloidosis in Patients With Surgery of Suspect Bilateral Carpal Tunnel (AMYLYONCARP)
Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let’s Not Miss the Forest for the Trees
Anesthetic Management of A Patient with Charcot-Marie-Tooth Disease for 2-stage Revision of Total Knee Replacement
A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L
Loss of function MPZ mutation causes milder CMT1B neuropathy
Diabetes coexistent with Charcot-Marie-Tooth disease presenting as a recurrent foot ulcer misdiagnosed as diabetic foot: a case report
Proximal Weakness Involvement In The First Italian Case Of Charcot-Marie-Tooth 2cc Harboring A Novel Frameshift Variant In Nefh
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations
Glycosylation Limits Forward Trafficking of the Tetraspan Membrane Protein PMP22
Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests
Next-Generation Sequencing Technologies and Neurogenetic Diseases
Management of flexible cavovarus foot in patients with Charcot-Marie-Tooth disease: midterm results
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease
Ion mobility-mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A
Calcineurin activity is increased in Charcot-Marie-Tooth 1B demyelinating neuropathy
Spinal cord compression from hypertrophic nerve roots in chronic inflammatory demyelinating polyradiculoneuropathy – A case report
Management of gait impairments in people with hereditary motor and sensory neuropathy: A treatment algorithm
AAV9-mediated FIG4 delivery prolongs life span in Charcot Marie Tooth disease type 4J mouse model
Short-Term Effectiveness of Ultrasound-Guided Corticosteroid Hydrodissection
A stress-free strategy to correct point mutations in patient iPS cells
Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene
Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene
Soft Tissue Techniques in Piriformis Syndrome
A recurrent MORC2 mutation causes CMT2Z
Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation
Instruments to assess upper-limb function in children and adolescents with neuromuscular diseases: a systematic review
Genotype-phenotype correlations of KIF5A stalk domain variants
Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase
Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations
Does a Different Local Anesthetic Improve Pain After Carpal Tunnel Release?
Involuntary moaning in a Hispanic family with eight affected members
Drosophila models to study causative genes for human rare intractable neurological diseases
Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests
Acupuncture Versus Laser Acupuncture for Carpal Tunnel Syndrome
A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy
Neurological involvement in monogenic podocytopathies
Reference values for lower limb nerve ultrasound and its diagnostic sensitivity
Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
Association between restless legs syndrome and peripheral neuropathy: A systematic review and meta-analysis
A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy
Neuropathic Ulcer
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS
PRP as Adjuvant Treatment to CTR for Severe CTS Tunnel Syndrome
Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
Assessment of Carpal Tunnel Syndrome by Shearwave Elastography
A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report
Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease
NuroSleeve Powered Brace to Restore Arm Function
Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
A patient with neonatal cholestasis
HINT1 neuropathy in Norway: clinical, genetic and functional profiling
Effect of Ultrasonographic Guided Insulin Injection With Dexamethasone and Local Anesthetic Mixture in Diabetic Patients With Mild to Moderate Carpal Tunnel .
Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
A PROSPECTIVE STUDY ON SURGICAL MANAGEMENT OF FOOT DEFORMITIES IN CHARCOT MARIE TOOTH DISEASE
Is Perls Prussian Blue Stain for Hemosiderin a Useful Adjunct in the Diagnosis of Vasculitic Neuropathies?

Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C
A weakened interface in the P182L variant of HSP27 associated with severe Charcot-Marie-Tooth neuropathy causes aberrant binding to interacting proteins
Charcot-Marie-Tooth Disease With Long-Term Follow-Up on Auditory Neuropathy-After Cochlear Implantation Or Hearing Aid Use
A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry
Effects of Early Crush on Aging Wild Type and Connexin 32 Knockout Mice: Evidence for a Neuroprotective State in CMT1X Mouse Nerve
Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease
New evidence for secondary axonal degeneration in demyelinating neuropathies
Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A
Clinical outcome of tibiotalocalcaneal fusion using cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease
Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
A comprehensive review of the treatment and management of Charcot spine
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
Cavovarus foot
Epigenetic Regulation of ALS and CMT: A Lesson from Drosophila Models
Cutaneous and muscular afferents from the foot and sensory fusion processing: Physiology and pathology in neuropathies
Magnetic resonance neurography in diagnosing childhood chronic inflammatory demyelinating polyradiculoneuropathy
Perceived Barriers, Enablers and Modifications to Tests Assessing Pediatric Lower Limb Neurological Impairment: An International Delphi Survey
The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers
The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease
A new mutation in DNM2 gene in a large Italian family
A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
Certification of a Pilot with Charcot-Marie-Tooth Disease
Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations
High-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients
Employment status of patients with Charcot-Marie-Tooth type 1A
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot-Marie-Tooth neuropathy and lower motor neuron disease
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease
Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report
AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1
Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies
Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth’s Disease Type 2A
Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model
Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients
Structure of the Complete Dimeric Human GDAP1 Core Domain Provides Insights into Ligand Binding and Clustering of Disease Mutations
Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease
The impact of orthoses on gait in children with Charcot-Marie-Tooth disease
Functional results and quality of life after joint preserving or sacrificing surgery in Charcot-Marie-Tooth foot deformities
Performance fatigability during gait in adults with Charcot-Marie-Tooth disease
The Effect of Different Molecular Weight of HA for Carpal Tunnel Syndrome
Extracorporeal Shock Wave Versus Local Corticosteroid Injection for Carpal Tunnel Syndrome
Performance fatigability during gait in adults with Charcot-Marie-Tooth disease.
The impact of orthoses on gait in children with Charcot-Marie-Tooth disease.
Functional results and quality of life after joint preserving or sacrificing surgery in Charcot-Marie-Tooth foot deformities.
Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Does the Diacutaneous Fibrolysis Change Ultrasonographic Measurements in Patients With Carpal Tunnel Syndrome?
Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model.
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond.
Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies.
[Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A].
AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1.
Mobilization With Movement in Carpal Tunnel Syndrome.
Metabolic and Functional Improvements in a Patient with Charcot-Marie-Tooth Disease Type 2 after EGCG Administration: A Case Report.
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
Employment status of patients with Charcot-Marie-Tooth type 1A.
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot Marie Tooth neuropathy and lower motor neuron disease.
High-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients.
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network.
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GDAP1 Mutations.
Analysis of the conformational changes caused by the mutations in mitofusin2 gene by Insilico approach.
Certification of a Pilot with Charcot-Marie-Tooth Disease.
[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease].
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
A new mutation in DNM2 gene in a large Italian family.
A novel histone deacetylase 6 inhibitor improves myelination of Schwann cells in a model of Charcot-Marie-Tooth disease type 1A.
The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers.
Perceived Barriers, Enablers and Modifications to Tests Assessing Pediatric Lower Limb Neurological Impairment: An International Delphi Survey.
Magnetic resonance neurography in diagnosing childhood chronic inflammatory demyelinating polyradiculoneuropathy.
Cutaneous and muscular afferents from the foot and sensory fusion processing: physiology and pathology in neuropathies.
A comprehensive review of the treatment and management of Charcot spine.
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
[Cavovarus foot].
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
Follow-up and Outcome of Operative Treatment With Decompressive Release Of The Peroneal Nerve
Nonenhancing thickened cranial nerves on MRI in Charcot-Marie-Thooth disease.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
New Evidence for Secondary Axonal Degeneration in Demyelinating Neuropathies.
Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A.
[Clinical outcome of tibiotalocalcaneal fusion using cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach].

Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Ketofol Versus Fenofol as Procedural Sedation for Carpal Tunnel Release
Effect of Ultrasound-guided Piriformis Muscle Corticosteroid Injection Versus Extracorporeal Shock Wave Therapy for Piriformis Syndrome: a Randomized Control Trial
One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.
Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D.
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
Effectiveness of a Tele-Rehabilitation Evidence-based Tablet App for Rehabilitation in Traumatic Bone and Soft Injuries of the Hand, Wrist and Fingers.
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Crystal and solution structure of NDRG1, a membrane-binding protein linked to myelination and tumour suppression.
Promoting Healing Of Nerves Through Electrical Stimulation
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Presence of the Arcade of Struthers on Preoperative Ultrasound
Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.
Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease.
Randomized Trial of Supercharged End-to-Side Anterior Interosseous Nerve Transfer for Severe Cubital Tunnel Syndrome
Genetic mechanisms of peripheral nerve disease.
Multiple cranial nerve enlargement in Charcot-Marie-Tooth disease.
Development and Validation of the Pediatric CMT Quality of Life Outcome Measure.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
The prevalence of hereditary neuromuscular disorders in Northern Norway.
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
Charcot-Marie-Tooth 4C and bilateral spinal dissection: Causal or coincidental relationship?
[Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy].
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
Lower Extremity Lymphatic Function in Nonambulatory Patients with Neuromuscular Disease.
Electrophysiological Changes Based on the Palmaris Longus
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Patient compliance with orthotic use- can we do better? An editorial for Zuccarino et al. “Satisfaction with Ankle Foot Orthoses in Individuals with Charcot-Marie-Tooth”.
Validation of a new hand function outcome measure in individuals with Charcot-Marie-Tooth disease.
Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Editorial for “Microstructural Integrity of Peripheral Nerves in Charcot-Marie-Tooth (CMT) Disease: An MRI Evaluation Study”.
Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.
Enlarged Brachial Plexus Nerve Found During Ultrasound-Guided Peripheral Nerve Block Diagnosed as Charcot-Marie-Tooth Disease: A Case Report.
A Database of Caenorhabditis elegans Locomotion and Body Posture Phenotypes for the Peripheral Neuropathy Model.
Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot-Marie-Tooth Disease Type 2A.
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.
Teaching NeuroImages: Hypertrophic polyneuropathy.
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
SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
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
Comparative Effectiveness of Ultrasound and Paraffin Therapy in Patients With Carpal Tunnel Syndrome: A Randomized Trial
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Use of Compression Glove to Prevent Complications After Distal Radius Fractures: a Randomized Controlled Trial
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid