Accepted
- 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
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PREMIER) Mar 23, 2022
- Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation Mar 21, 2022
- Clinical genetics of Charcot–Marie–Tooth disease Mar 18, 2022
- Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A [Suspended] Mar 16, 2022
- Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population Mar 16, 2022
- DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening Mar 14, 2022
- Multiubiquitination of TRPV4 reduces channel activity independent of surface localization Mar 14, 2022
- Mitochondria-lysosome contact site dynamics and misregulation in neurodegenerative diseases Mar 3, 2022
- A Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A Mar 2, 2022
- Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A Feb 25, 2022
- Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot-Marie-Tooth 1A Feb 21, 2022
- Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1 [preprint] Feb 18, 2022
- Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons Feb 14, 2022
- A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D Feb 11, 2022
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice Feb 10, 2022
- Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7K126R Mutation Jan 31, 2022
- SARM1 Knockout Does Not Rescue Neuromuscular Phenotypes in a Charcot-Marie-Tooth Disease Type 1A Mouse Model Jan 28, 2022
- Cytokines secreted by mesenchymal stem cells reduce demyelination in an animal model of Charcot-Marie-Tooth disease Jan 28, 2022
- Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H [preprint] Jan 22, 2022
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases? Jan 15, 2022
- The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation Jan 4, 2022
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models Jan 3, 2022
- HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D) Dec 26, 2021
Rejected
- Toxic Medications in Charcot-Marie-Tooth Patients: A Systematic Review May 30, 2023
- Macrophages influence Schwann cell myelin autophagy after nerve injury and in a model of Charcot-Marie-Tooth disease May 20, 2023
- A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature May 19, 2023
Deleted
- Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers May 25, 2023
- Cavovarus with A Twist: Coronal and Axial Plane Rotational Deformity in the Midfoot of Charcot- Marie-Tooth Patients May 25, 2023
- Use of Weight-Bearing Computed Tomography in the Evaluation of Abnormal Hindfoot Morphology in Charcot-Marie-Tooth Patients May 25, 2023
- Popliteal Nerve Catheters for Perioperative Pain Control in Charcot-Marie-Tooth Patients May 25, 2023
- Clinically Significant Improvement in Pre vs Post-Operative PROMIS Scores after Cavovarus Reconstruction in Patients with Charcot-Marie-Tooth Disease May 25, 2023
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy May 25, 2023
- The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation May 25, 2023
- An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families May 25, 2023
- Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy May 25, 2023
- Proximal nerve MR neurography with diffusion tensor imaging in differentiating subtypes of Charcot-Marie-Tooth disease May 25, 2023
- Validation of the Spanish version of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) May 25, 2023
- Foot orthoses for treating paediatric flat feet May 25, 2023
- Diagnosis of a floppy neonate with misleading clues: unraveled as congenital hypomyelinating neuropathy May 25, 2023
- Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients May 25, 2023
- Therapeutic Strategies Targeting Mitochondrial Calcium Signaling: A New Hope for Neurological Diseases? May 25, 2023
- An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models May 25, 2023
- Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease May 25, 2023
- Cavovarus With a Twist: Midfoot Coronal and Axial Plane Rotational Deformity in Charcot-Marie-Tooth Disease May 25, 2023
- Foot orthoses for treating paediatric flat feet May 25, 2023
- Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments May 25, 2023
- Tongue atrophy as a neurological finding in hereditary polyneuropathy in Alaskan malamutes May 25, 2023
- Neuropathic Ulcer May 25, 2023
- Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report May 25, 2023
- Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F May 25, 2023
- A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene May 25, 2023
- Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome May 25, 2023
- O-GlcNAcylation of MORC2 at threonine 556 by OGT couples TGF-β signaling to breast cancer progression May 25, 2023
- Prevalence and incidence of neuromuscular conditions in the UK between 2000 and 2019: A retrospective study using primary care data May 25, 2023
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes May 25, 2023
- Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients May 25, 2023
- Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss May 25, 2023
- A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family May 25, 2023
- Abnormal Bone Morphology in Charcot-Marie-Tooth Disease May 25, 2023
- Rocuronium-induced respiratory paralysis refractory to sugammadex in Charcot-Marie-Tooth disease May 25, 2023
- [CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report May 25, 2023
- Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene May 25, 2023
- Farnesol Ameliorates Demyelinating Phenotype in a Cellular and Animal Model of Charcot-Marie-Tooth Disease Type 1A May 25, 2023
- Safety and Efficacy of Postoperative Indwelling Popliteal Nerve Catheters for Outpatient Charcot-Marie-Tooth Surgery May 25, 2023
- SORD-related hereditary neuropathies May 25, 2023
- Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1 May 25, 2023
- Drosophila as a model to study autophagy in neurodegenerative diseases and digestive tract May 25, 2023
- MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in CMT2A-linked MFN2 mutant May 25, 2023
- Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease May 25, 2023
- A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease May 25, 2023
- Are you sure that ankle is just sprained? A review of common ankle conditions, diagnoses and treatment May 25, 2023
- Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives May 25, 2023
- NAD+ Metabolism and Diseases with Motor Dysfunction May 25, 2023
- Electrodiagnostic Testing for Diagnosing Polyneuropathy May 25, 2023
- Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis May 25, 2023
- Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy May 25, 2023
- Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: a Korean cohort study May 25, 2023
- Gradual Correction of Pediatric Equinus Deformity May 25, 2023
- Neurologic Disorders Affecting the Foot and Ankle May 25, 2023
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5 May 25, 2023
- An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness May 25, 2023
- De Novo Variants in the DYNC1H1 Gene Associated With Infantile Spasms May 25, 2023
- iMAX: A new tool for assessment of motor axon excitability. A multicenter prospective study May 25, 2023
- New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis May 25, 2023
- Metabolic and biophysical study of the MFN2Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN) May 25, 2023
- Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report May 25, 2023
- Models for IGHMBP2-associated diseases: an overview and a roadmap for the future May 25, 2023
- Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis May 25, 2023
- Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A May 25, 2023
- Stem Cell Therapy Enhances Motor Activity of Triceps Surae Muscle in Mice with Hereditary Peripheral Neuropathy May 25, 2023
- Fasciculation differences between ALS and non-ALS patients: an ultrasound study May 25, 2023
- PMP2/FABP8 induces PI(4,5)P2 -dependent transbilayer reorganization of sphingomyelin in the plasma membrane May 25, 2023
- AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in GarsP278KY/+ mice May 25, 2023
- Ilizarov Technique in Severe Pediatric Foot Disorders May 25, 2023
- Mechanisms and Treatments in Demyelinating CMT May 25, 2023
- Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene May 25, 2023
- Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease May 25, 2023
- Clinical and Molecular Features of First Mexican Friedreich’s Ataxia Patients with Compound Heterozygous FXN Mutations May 25, 2023
- Intraepineurial fat quantification and cross-sectional area analysis of the sciatic nerve using MRI in Charcot-Marie-Tooth disease type 1A patients May 25, 2023
- The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects May 25, 2023
- The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort May 25, 2023
- Distinct roles for the Charcot-Marie-tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination May 25, 2023
- 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 May 25, 2023
- The Difficult Airway with Tracheostomy – Manufacturing of an Individualized Tracheal Tube with Modern Imaging and 3D Printing May 25, 2023
- New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies May 25, 2023
- Expanding the phenotype of SLC12A6 -associated sensorimotor neuropathy May 25, 2023
- The function of Scox in glial cells is essential for locomotive ability in Drosophila May 25, 2023
- Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain May 25, 2023
- Antisense Oligonucleotide-Mediated Silencing of Mitochondrial Fusion and Fission Factors Modulates Mitochondrial Dynamics and Rescues Mitochondrial Dysfunction May 25, 2023
- HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease May 25, 2023
- Morc2a p.S87L mutant mice develop peripheral and central neuropathies associated with neuronal DNA damage and apoptosis May 25, 2023
- GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies May 25, 2023
- 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 May 25, 2023
- Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases May 25, 2023
- Drug repurposing shows promise for Charcot-Marie-Tooth disease May 25, 2023
- Raising cGMP restores proteasome function and myelination in mice with a proteotoxic neuropathy May 25, 2023
- 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 May 25, 2023
- Charcot-Marie-Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response May 25, 2023
- Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families May 25, 2023
- A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report May 25, 2023
- MORC2 gene de novo mutation leads to Charcot-Marie-Tooth disease type 2Z: A pediatric case report and literature review May 25, 2023
- GAN -Related Neurodegeneration May 25, 2023
- Electrodiagnostic Evaluation Of Peripheral Neuropathy May 25, 2023
- Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland May 25, 2023
- 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 May 25, 2023
- The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan May 25, 2023
