Accepted
- Exploring the Functions of tRNA Synthetases in the Nucleus and their Relationship to CMT Mar 31, 2025
- The Role of ESCRTs in Regulating Nervous System Function Nov 30, 2024
- Genomic Studies in Charcot-Marie-Tooth Disease Jul 31, 2024
- Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives Mar 5, 2024
- Accelerate Clinical Trials in CMT (ACTCMT) Study Feb 29, 2024
- Creation of a Schwann Cell Gene Regulatory Network Feb 28, 2024
- Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B [Preprint] Feb 2, 2024
- The Regentime stem cell procedure, successful treatment for a Charcot-Marie-Tooth disease case Dec 28, 2023
- Preclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice Dec 18, 2023
- AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells Nov 28, 2023
- Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A Nov 25, 2023
- Mouse models of human CNTNAP1-associated congenital hypomyelinating neuropathy and genetic restoration of murine neurological deficits Oct 19, 2023
- Intravenous Administration of an AAV9 Vector Ubiquitously Expressing C1orf194 Gene Improved CMT-Like Neuropathy in C1orf194-/- Mice Oct 16, 2023
- Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment Sep 22, 2023
- Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels Aug 30, 2023
- AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C Aug 27, 2023
- Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease Aug 19, 2023
- Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy Aug 1, 2023
- Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene Jul 23, 2023
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Jul 18, 2023
- Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease Jul 4, 2023
- Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1 Jun 19, 2023
- Macrophages influence Schwann cell myelin autophagy after nerve injury and in a model of Charcot-Marie-Tooth disease May 20, 2023
- TGFβ4 alleviates the phenotype of Charcot-Marie-Tooth disease type 1A May 4, 2023
- DGIST Professor Minseok Kim’s team develops an electronic medicine technology that restores abnormal protein behavior, the cause of Charcot-Marie-Tooth Disease (CMT) Mar 31, 2023
- Charcot-Marie-Tooth neuropathies: current gene therapy advances and the route towards translation Mar 25, 2023
- MFN2-dependent recruitment of ATAT1 coordinates mitochondria motility with alpha-tubulin acetylation and is disrupted in CMT2A Mar 16, 2023
- Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice Mar 16, 2023
- Restoring Neurofilaments to Axons in a Mouse Model of CMT2E Feb 28, 2023
- Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A Feb 7, 2023
- Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation Feb 3, 2023
- Novel Variants in MPV17, PRX, GJB1 , and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases Jan 30, 2023
- Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease Jan 20, 2023
- Exercise induced myelin protein zero improvement in neuropathic pain rats Jan 11, 2023
- A meta-analysis on the prevalence of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies Jan 11, 2023
- Investigating SIPA1L2 as a Modifier Gene and Therapeutic Target for Charcot-Marie-Tooth Type 1A Jan 8, 2023
- Targeting the PMP22 Protein to Develop Leads Against Charcot-Marie-Tooth Disease Dec 31, 2022
- Actin-mediated regulation of organelle dynamics in Charcot-Marie-Tooth disease Dec 31, 2022
- Electroceutical approach ameliorates intracellular PMP22 aggregation and promotes pro-myelinating pathways in a CMT1A in vitro model Dec 30, 2022
- How T118M peripheral myelin protein 22 predisposes humans to Charcot-Marie-Tooth disease Dec 26, 2022
- RNA therapeutics: the key to treat rare diseases such as Charcot-Marie-Tooth 1A? Dec 22, 2022
- CMT1A current gene therapy approaches and promising biomarkers Dec 22, 2022
- Charcot-Marie-Tooth-1A and sciatic nerve crush rat models: insights from proteomics Nov 25, 2022
- Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis Nov 24, 2022
- Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S Nov 22, 2022
- Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system Nov 18, 2022
- A novel splicing mutation in 5’UTR of GJB1 causes X-linked Charcot-Marie-tooth disease Nov 17, 2022
- Targeted inactivation of the Septin2 and Septin9 genes in myelinating Schwann cells of mice Nov 15, 2022
- A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication Nov 9, 2022
- Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H Oct 31, 2022
- CMT Research Foundation funding boosts Samsara Therapeutics Charcot-Marie-Tooth treatment Oct 22, 2022
- Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy Oct 19, 2022
- Young infants with PMP22 duplication can have minor nerve conduction study abnormalities Oct 14, 2022
- Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study Oct 6, 2022
- Magnetic resonance imaging-based lower limb muscle evaluation in Charcot-Marie-Tooth disease type 1A patients and its correlation with clinical data Oct 5, 2022
- Quality of life and upper limb disability in Charcot-Marie-Tooth disease: A pilot study Oct 5, 2022
- Histidine supplementation can escalate or rescue HARS deficiency in a Charcot Marie Tooth Disease model Sep 26, 2022
- Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease Sep 25, 2022
- Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry Sep 16, 2022
- A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins Sep 15, 2022
- Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study Sep 15, 2022
- Identity-by-descent analysis of CMTX3 links three families through a common founder Sep 12, 2022
- Heterozygous Seryl-tRNA synthetase 1 variants cause Charcot-Marie-Tooth disease Sep 10, 2022
- Electroceutical technology could be used to treat Charcot-Marie-Tooth disease Aug 30, 2022
- Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts Aug 22, 2022
- TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration Aug 19, 2022
- Implantable Electroceutical Approach Improves Myelination by Restoring Membrane Integrity in a Mouse Model of Peripheral Demyelinating Neuropathy Aug 16, 2022
- Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Aug 15, 2022
- CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis Aug 4, 2022
- Investigating SIPA1L2 as a Modifier Gene and Therapeutic Target for Charcot-Marie-Tooth Type 1A Jul 31, 2022
- A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism Jul 31, 2022
- Expanding the phenotypic variability of MORC2 gene mutations: from Charcot Marie tooth disease to late-onset pure motor neuropathy Jul 29, 2022
- Advantages of Adult Mouse Dorsal Root Ganglia Explant Culture in Investigating Myelination in an Inherited Neuropathic Mice Model Jul 24, 2022
- Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy Jul 18, 2022
- C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model Jul 16, 2022
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients Jul 8, 2022
- Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition Jul 3, 2022
- EGR2-related mixed demyelinating and axonal Charcot-Marie-Tooth disease: An electrodiagnostic, nerve imaging, and histological study Jun 30, 2022
- The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2 Jun 28, 2022
- Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A Jun 26, 2022
- Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease Jun 16, 2022
- Theophylline Induces Remyelination and Functional Recovery in a Mouse Model of Peripheral Neuropathy Jun 15, 2022
- Candidate imaging biomarkers for PMP22-related inherited neuropathies Jun 3, 2022
- Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation May 24, 2022
- Disruption of endosomal sorting in Schwann cells leads to defective myelination and endosomal abnormalities observed in Charcot-Marie-Tooth disease May 23, 2022
- Phase 2 Data Show ACE-083 Was Safe, Improved Muscle Function in Charcot-Marie-Tooth Disease Type 1 May 22, 2022
- A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice May 17, 2022
- The Lipid-Binding Defective Dynamin 2 Mutant in Charcot-Marie-Tooth Disease Impairs Proper Actin Bundling and Actin Organization in Glomerular Podocytes May 10, 2022
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 May 4, 2022
- Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A) [completed] May 4, 2022
- Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice May 2, 2022
- Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A Apr 19, 2022
- Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene Apr 12, 2022
- Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies Apr 8, 2022
- The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase Apr 5, 2022
- Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders Mar 31, 2022
- Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor Mar 30, 2022
- Curcumin and Ethanol Effects in Trembler-J Schwann Cell Culture Mar 29, 2022
- The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology Mar 24, 2022
- HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model Mar 23, 2022
Rejected
- Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review Dec 19, 2024
- Autophagy induction by piplartine ameliorates axonal degeneration caused by mutant HSPB1 and HSPB8 in charcot-marie-tooth type 2 neuropathies Dec 19, 2024
- Schwann Cell-Specific Ablation of Beclin 1 Impairs Myelination and Leads to Motor and Sensory Neuropathy in Mice Dec 16, 2024
- Neuromuscular transmission deficits in patients with CMT and ClC-1 inhibition in CMT animal models Dec 13, 2024
- Electrical impedance myography detects progressive pathological alterations in the hindlimb muscle of the PMP22-C3 mice, an animal model of CMT1A Dec 10, 2024
- A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model Dec 5, 2024
- Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease Dec 3, 2024
- How hidden is hidden hearing loss? Self-reported listening problems in charcot Marie tooth disease Dec 2, 2024
- CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series Nov 28, 2024
- Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant Nov 28, 2024
- Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report Nov 26, 2024
- A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 Nov 26, 2024
- Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease Nov 25, 2024
- A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3 Nov 21, 2024
- Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study Nov 21, 2024
- AAV1.tMCK.NT-3 gene therapy improves phenotype in Sh3tc2(-/-) mouse model of Charcot-Marie-Tooth Type 4C Nov 14, 2024
- Synergistic effect of Wharton’s jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment Nov 12, 2024
- Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease Nov 12, 2024
- Middle ear cholesteatoma and facial nerve hypertrophy mimicking schwannoma in Charcot-Marie-Tooth disease: A case report Nov 11, 2024
- Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage Nov 10, 2024
- Ighmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S Oct 24, 2024
- Comparison of Manual vs Artificial Intelligence-Based Muscle MRI Segmentation for Evaluating Disease Progression in Patients With CMT1A Oct 24, 2024
- Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene Oct 22, 2024
- Establishment of a Serum-Free Human iPSC-Derived Model of Peripheral Myelination Oct 22, 2024
- Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene Oct 21, 2024
- Monitoring Myelin Lipid Composition and the Structure of Myelinated Fibers Reveals a Maturation Delay in CMT1A Oct 21, 2024
- Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report Oct 20, 2024
- A Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barre Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies Oct 20, 2024
- 3D-printed custom ankle braces for people with Charcot-Marie-Tooth disease: A pilot study Oct 18, 2024
- Evaluation of the Role of Tanshinone I in an In Vitro System of Charcot-Marie-Tooth Disease Type 2N Oct 17, 2024
- Pharmacologically increasing cGMP improves proteostasis and reduces neuropathy in mouse models of CMT1 Oct 13, 2024
- Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation – novel insights into pathogenicity and treatment Oct 10, 2024
- Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study Oct 10, 2024
- Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W Oct 1, 2024
- Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3 Sep 20, 2024
- Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation Sep 20, 2024
- The recovery cycle of excitability assessed by a conventional electrodiagnostic machine: A study in healthy volunteers and in Charcot-Marie-Tooth 1A patients Sep 17, 2024
- ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease Sep 17, 2024
- Ultrasonographic manifestations of Charcot-Marie-Tooth disease due to a mutation in the PMP22 gene: A case image Sep 16, 2024
- The effect of ankle-foot orthoses on gait characteristics in people with Charcot-Marie-Tooth disease: A systematic review and meta-analysis Sep 14, 2024
- Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies Sep 9, 2024
- Current Treatment Methods for Charcot-Marie-Tooth Diseases Sep 9, 2024
- Efficient data labeling strategies for automated muscle segmentation in lower leg MRIs of Charcot-Marie-Tooth disease patients Sep 6, 2024
- Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy Sep 2, 2024
- Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report Aug 31, 2024
- The peripheral nerve: A neglected topic in Charcot’s neurological work Aug 29, 2024
- Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies Aug 27, 2024
- A Case of Charcot-Marie-Tooth Disease Causing Colitis and Electrolyte Imbalances Aug 27, 2024
- Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches Aug 26, 2024
- Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria Aug 26, 2024
- Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model Aug 23, 2024
- Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report Aug 14, 2024
- Jean-Martin Charcot: Pioneer of Neurology Aug 13, 2024
- Mfn2(R364W), Mfn2(G176S), and Mfn2(H165R) mutations drive Charcot-Marie-tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage Aug 12, 2024
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J Aug 12, 2024
- Is a Plantarflexed First Ray the Primary Deformity In Children With Cavovarus Feet Secondary to Charcot-Marie-Tooth Disease? A Pedobarographic Analysis Aug 12, 2024
- Meary’s angle decoded: 3D analysis of first ray plantarflexion deformity in Charcot-marie-tooth disease Aug 8, 2024
- Translating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease Aug 8, 2024
- Spatial selectivity of ATase inhibition in mouse models of Charcot-Marie-Tooth disease Jul 19, 2024
- Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease Jul 15, 2024
- CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants Jul 12, 2024
- Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation Jul 11, 2024
- Loss of YAP in Schwann cells improves HNPP pathophysiology Jul 11, 2024
- Pharmacological Doses of Thiamine Benefit Patients with the Charcot-Marie-Tooth Neuropathy by Changing Thiamine Diphosphate Levels and Affecting Regulation of Thiamine-Dependent Enzymes Jul 9, 2024
- Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease Jul 9, 2024
- SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause Jul 8, 2024
- The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes Jul 4, 2024
- Charcot-Marie-Tooth Disease and Hearing Loss: A Systematic Review With Meta-Analysis Jul 2, 2024
- A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity Jun 28, 2024
- Rotating Hinge Knee Arthroplasty for Charcot Joints of the Knees in Patients With Charcot-Marie-Tooth Disease: A Report of Two Cases Jun 25, 2024
- Gene therapies for CMT neuropathies: from the bench to the clinic Jun 14, 2024
- Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation Jun 13, 2024
- Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease Jun 11, 2024
- A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing Jun 11, 2024
- Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity Jun 10, 2024
- Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy Jun 5, 2024
- Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1 May 30, 2024
- Use of transcranial motor evoked potentials (TcMEPs) in spine deformity surgery in a case of Charcot-Marie-tooth disease-what we should know? A case report May 25, 2024
- Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China May 21, 2024
- MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A May 15, 2024
- PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells May 14, 2024
- p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A May 13, 2024
- Charcot-Marie-Tooth type 2A in vivo models: Current updates May 9, 2024
- Telecoaching: a potential new training model for Charcot-Marie-Tooth patients: a systematic review May 8, 2024
- Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation May 5, 2024
- Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT Apr 26, 2024
- Prolonged Duration of Peripheral Nerve Blockade in a Pediatric Patient with Charcot Marie Tooth Disease: A Case Report Apr 20, 2024
- One-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI Apr 17, 2024
- Foot surgery for adults with Charcot-Marie-Tooth disease Apr 17, 2024
- The Hexokinase 1 5′-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering Apr 15, 2024
- Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A Apr 13, 2024
- Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination Apr 12, 2024
- Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection Apr 7, 2024
- Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature Apr 6, 2024
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy Apr 6, 2024
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A Apr 5, 2024
- An 8-month adapted motor activity program in a young CMT1A male patient Apr 4, 2024
- A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy Apr 3, 2024
- Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy Apr 1, 2024
- Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria Mar 18, 2024
