- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease
- Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
- Cavovarus with A Twist: Coronal and Axial Plane Rotational Deformity in the Midfoot of Charcot- Marie-Tooth Patients
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models
- An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
- Cavovarus With a Twist: Midfoot Coronal and Axial Plane Rotational Deformity in Charcot-Marie-Tooth Disease
- Foot orthoses for treating paediatric flat feet
- Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
- Health-related Quality of Life and Satisfaction with German Health Care Services in Patients with Charcot-Marie-Tooth Neuropathy
- O-GlcNAcylation of MORC2 at threonine 556 by OGT couples TGF-β signaling to breast cancer progression
- [A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene]
- Popliteal Nerve Catheters for Perioperative Pain Control in Charcot-Marie-Tooth Patients
- Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
- Foot orthoses for treating paediatric flat feet
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
- Proximal nerve MR neurography with diffusion tensor imaging in differentiating subtypes of Charcot-Marie-Tooth disease
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases?
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
- Tongue atrophy as a neurological finding in hereditary polyneuropathy in Alaskan malamutes
- The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation
- Cytokines secreted by mesenchymal stem cells reduce demyelination in an animal model of Charcot-Marie-Tooth disease
- Clinically Significant Improvement in Pre vs Post-Operative PROMIS Scores after Cavovarus Reconstruction in Patients with Charcot-Marie-Tooth Disease
- Use of Weight-Bearing Computed Tomography in the Evaluation of Abnormal Hindfoot Morphology in Charcot-Marie-Tooth Patients
- MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant
- Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
- Identification of a novel homozygous SCO2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease
- Neurologic Disorders Affecting the Foot and Ankle
- Gradual Correction of Pediatric Equinus Deformity
- Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
- iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study
- Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
- The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease
- Antisense Oligonucleotide-Mediated Silencing of Mitochondrial Fusion and Fission Factors Modulates Mitochondrial Dynamics and Rescues Mitochondrial Dysfunction
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
- 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
- Are you sure that ankle is just sprained? A review of common ankle conditions, diagnoses and treatment
- Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families
- Physical function and performance measures of children and adolescents with Charcot-Marie-Tooth disease
- [Validation of the Spanish version of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)]
- Genetics, X-Linked Inheritance
- Neuropathic Ulcer
- Pes Cavus
- Charcot Marie Tooth
- Electrodiagnostic Evaluation Of Peripheral Neuropathy
- Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
- Cavovarus with A Twist: Coronal and Axial Plane Rotational Deformity in the Midfoot of Charcot- Marie-Tooth Patients
- Use of Weight-Bearing Computed Tomography in the Evaluation of Abnormal Hindfoot Morphology in Charcot-Marie-Tooth Patients
- Popliteal Nerve Catheters for Perioperative Pain Control in Charcot-Marie-Tooth Patients
- Clinically Significant Improvement in Pre vs Post-Operative PROMIS Scores after Cavovarus Reconstruction in Patients with Charcot-Marie-Tooth Disease
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
- The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation
- An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
- Phonophoresis, Low-Level Laser Therapy and Exercise in the Treatment of Carpal Tunnel Syndrome
- Effect of Chitosan Phonophoresis On Cubital Tunnel Syndrome
- Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
- Proximal nerve MR neurography with diffusion tensor imaging in differentiating subtypes of Charcot-Marie-Tooth disease
- Validation of the Spanish version of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)
- Foot orthoses for treating paediatric flat feet
- Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy
- Effectiveness of Ultrasound Guided Hydro-dissection of Median Nerve in Carpal Tunnel Syndrome
- Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases?
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease
- Spinal Cord Stimulation Therapy for Hereditary Spastic Paraplegias Patients
- Cavovarus With a Twist: Midfoot Coronal and Axial Plane Rotational Deformity in Charcot-Marie-Tooth Disease
- Foot orthoses for treating paediatric flat feet
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
- Tongue atrophy as a neurological finding in hereditary polyneuropathy in Alaskan malamutes
- Telerehabilitation in Carpal Tunnel Syndrome
- Neuropathic Ulcer
- Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report
- Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F
- A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene
- The Effect of Ulnar Nerve Injury Localization on Sleep Quality in Patients With Ulnar Nerve Entrapment Neuropathy
- Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome
- O-GlcNAcylation of MORC2 at threonine 556 by OGT couples TGF-β signaling to breast cancer progression
- Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: A retrospective study using primary care data
- The Effect of Ulnar Nerve Entrapment Localization on Ipsilateral Upper Extremity Functions in Patients With Ulnar Nerve Entrapment Neuropathy.
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes
- Multimodal Approach of Electrotherapy Versus Nerve Flossing Technique in Patient With Carpal Tunnel Syndrome
- Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients
- Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss
- A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family
- Abnormal Bone Morphology in Charcot-Marie-Tooth Disease
- Rocuronium-induced respiratory paralysis refractory to sugammadex in Charcot-Marie-Tooth disease
- [CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
- Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A
- Safety and Efficacy of Postoperative Indwelling Popliteal Nerve Catheters for Outpatient Charcot-Marie-Tooth Surgery
- Mnaual Therapy in Treatment of Carpal Tunnel Syndrome
- SORD-related hereditary neuropathies
- Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
- Drosophila as a model to study autophagy in neurodegenerative diseases and digestive tract
- MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in CMT2A-linked MFN2 mutant
- Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test.
- Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease
- A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease
- Are you sure that ankle is just sprained? A review of common ankle conditions, diagnoses and treatment
- Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives
- NAD+ Metabolism and Diseases with Motor Dysfunction
- Electrodiagnostic Testing for Diagnosing Polyneuropathy
- Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis
- Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy
- Tarsal Tunnel Syndrome and Fibromyalgia
- Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: a Korean cohort study
- Impact of a Conservative Treatment With Diacutaneous Fibrolysis in the Waiting List for Carpal Tunnel Syndrome Surgery.
- Gradual Correction of Pediatric Equinus Deformity
- Neurologic Disorders Affecting the Foot and Ankle
- An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms
- iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study
- New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis
- Metabolic and biophysical study of the MFN2Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN)
- Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
- Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
- Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
- Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A
- Stem Cell Therapy Enhances Motor Activity of Triceps Surae Muscle in Mice with Hereditary Peripheral Neuropathy
- Fasciculation differences between ALS and non-ALS patients: an ultrasound study
- PMP2/FABP8 induces PI(4,5)P2 -dependent transbilayer reorganization of sphingomyelin in the plasma membrane
- AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in GarsP278KY/+ mice
- Effectiveness of Mirror Therapy in Patients With Carpal Tunnel Syndrome
- Ilizarov Technique in Severe Pediatric Foot Disorders
- Mechanisms and Treatments in Demyelinating CMT
- Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene
- Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease
- Clinical and Molecular Features of First Mexican Friedreich’s Ataxia Patients with Compound Heterozygous FXN Mutations
- Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients
- The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects
- The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort
- Distinct roles for the Charcot-Marie-tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination
- Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the beta Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy
- The Difficult Airway with Tracheostomy – Manufacturing of an Individualized Tracheal Tube with Modern Imaging and 3D Printing
- New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies
- Expanding the phenotype of SLC12A6 -associated sensorimotor neuropathy
- The function of Scox in glial cells is essential for locomotive ability in Drosophila
- Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
- Antisense Oligonucleotide-Mediated Silencing of Mitochondrial Fusion and Fission Factors Modulates Mitochondrial Dynamics and Rescues Mitochondrial Dysfunction
- A Single-portal Endoscopic Approach Through Subcutaneous Tunnel for Carpal Tunnel Release
- A Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A
- HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease
- Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis
- GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
- GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1
- Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases
- Drug repurposing shows promise for Charcot-Marie-Tooth disease
- Raising cGMP restores proteasome function and myelination in mice with a proteotoxic neuropathy
- 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
- Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response
- Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families
- A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report
- MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review
- 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.
- 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