Accepted
- Validation of the Parent-Proxy Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure Feb 6, 2023
- The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease Feb 4, 2023
- Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules Feb 3, 2023
- Retraction: Charcot-Marie-Tooth Disease as a Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing Jan 20, 2023
- INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis Jan 13, 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
- X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report Jan 11, 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 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
- A mutation associated with Charcot-Marie-Tooth disease enhances the formation of stable dynamin 2 complexes in cells [preprint] Dec 13, 2021
- A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease Dec 1, 2021
- Demyelination induces transcriptional reprograming in proprioceptive and Aβ rapidly adapting low-threshold-mechanoreceptor neurons [preprint] Nov 23, 2021
- Inversely proportional myelin growth due to altered Pmp22 gene dosage identifies PI3K/Akt/mTOR signaling as a novel therapeutic target in HNPP [preprint] Nov 8, 2021
- Mechanisms and Treatments in Demyelinating CMT Nov 8, 2021
- Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives Oct 29, 2021
Rejected
- Investigating SIPA1L2 as a Modifier Gene and Therapeutic Target for Charcot-Marie-Tooth Type 1A Jan 8, 2023
- Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease Nov 30, 2022
- A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam Nov 24, 2022
- Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease Nov 21, 2022
- Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3 Oct 17, 2022
- Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease Aug 31, 2022
- Management of Stress Urinary Incontinence With Pelvic Floor Muscle Training for a Woman With Charcot-Marie-Tooth Disease: A Case Report Jun 6, 2022
- Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations May 10, 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
- MORC2 p.R252W Mutant Axonal Charcot-Marie-Tooth Disease Causes Peripheral Neuropathies and Pathological Myofiber Destruction [pdf] Mar 25, 2022
- Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice Mar 16, 2022
- Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes Mar 2, 2022
- Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy Jan 29, 2022
- Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype Sep 13, 2021
- A mutation can hide another one: Think Structural Variants! Aug 27, 2020
- Clinical Trial of VM202 (Engensis) for CMT1A begins in Korea Jul 23, 2020
- Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease Jan 17, 2020
- In-silico and in-vitro effects of the I30T mutation on the Myelin Protein Zero instability in the cell membrane: towards an understanding of disease cellular pathology in CMT type 1B (CMT1B) Nov 26, 2019
- Protein Amphipathic Helix Insertion: A Mechanism to Induce Membrane Fission Nov 26, 2019
- Serum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy. Nov 15, 2019
- Reticulon 4 gene not involved in causing Charcot-Marie-Tooth disease type 1 Oct 18, 2019
- List of Projects Sep 17, 2019
- The Cytoskeleton as a Modulator of Aging and Neurodegeneration Sep 7, 2019
- Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2 Aug 29, 2019
- A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5 Aug 21, 2019
- Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients Jun 21, 2019
- Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX) May 9, 2019
- New insights into CMT2A. May 8, 2019
- May 6, 2019
- Charcot-Marie-Tooth updates from AAN 2019 May 6, 2019
- Cell and context-dependent sorting of neuropathy-associated protein NDRG1 – insights from canine tissues and primary Schwann cell cultures Apr 27, 2019
- Pharnext [PXT3003] Reports Financial Results for Year-End 2018 Apr 24, 2019
- A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms Apr 24, 2019
- Novel method for precise evaluation of PMP22 levels in skin biopsies that can discriminate CMT1A patients from controls Apr 4, 2019
- Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease: Intermediate or axonal? Mar 20, 2019
- Human 2-Oxoglutarate Dehydrogenase and 2-Oxoadipate Dehydrogenase Both Generate Superoxide/H2O2 in a Side Reaction and Each Could Contribute to Oxidative Stress in Mitochondria Mar 7, 2019
- New Therapy for Charcot-Marie-Tooth Disease Gets Orphan Drug Designation Mar 5, 2019
- LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases Mar 2, 2019
- Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies Mar 1, 2019
- tRNAs and Aminoacyl-tRNA Synthetases in Human Disease: an introduction to the JBC Reviews thematic series Feb 24, 2019
- Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2 Feb 20, 2019
- Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ Feb 14, 2019
- Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Apr 21, 2017
- Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A Nov 9, 2015
- MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Jun 23, 2014
