Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.
Başdemirci M et al.
Molecular Syndromology, 2025
A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.
Christou M et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Cemdomespib Therapy Slows the Progression of Neuromuscular Weakness and Demyelination in the R75W-Connexin 32 Animal Model of Charcot-Marie-Tooth 1X Disease.
Lang RM et al.
Acs Pharmacology & Translational Science, 2025
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L et al.
European Journal of Neurology, 2025
Peripheral Nervous System (PNS) Myelin Diseases.
Scherer SS et al.
Cold Spring Harbor Perspectives in Biology, 2024
New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease.
Caballé RB et al.
Molecular Therapy. Methods & Clinical Development, 2024
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Kulsirichawaroj P et al.
Journal of Neuromuscular Diseases, 2024
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ et al.
Brain : a Journal of Neurology, 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.
Kagiava A et al.
Molecular Therapy. Methods & Clinical Development, 2023
Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.
Tadenev ALD et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.
Pisciotta C et al.
Neuromuscular Disorders : Nmd, 2023
Inherited disease-linked arginine76/75 mutants in Cx50 and Cx45 showed impaired homotypic and heterotypic gap junction function, but not Cx43.
Li T et al.
The Biochemical Journal, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease.
Kaur S et al.
Acs Pharmacology & Translational Science, 2023
Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.
Abrams CK et al.
Experimental Neurology, 2023
Connexin Mutations and Hereditary Diseases.
Qiu Y et al.
International Journal of Molecular Sciences, 2022
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.
Kagiava A et al.
Gene Therapy, 2021
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M et al.
International Journal of Molecular Sciences, 2021
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
Vogt B et al.
Journal of Neurology, 2020
The role of oligodendrocyte gap junctions in neuroinflammation.
Papaneophytou C et al.
Channels (austin, Tex.), 2019
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].
Shimizu C et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Intrathecal gene therapy in mouse models expressing CMT1X mutations.
Kagiava A et al.
Human Molecular Genetics, 2018
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
Agrahari AK et al.
Journal of Theoretical Biology, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome.
Parissis D et al.
The Neurologist, 2017
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L et al.
Clinical Genetics, 2017
Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.
Kyriakoudi S et al.
Human Molecular Genetics, 2017
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 2017
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
Olympiou M et al.
Acta Neuropathologica Communications, 2016
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
Sun B et al.
Chinese Medical Journal, 2016
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].
Liu X et al.
Zhonghua Nei Ke Za Zhi, 2015
Connexins, gap junctions and peripheral neuropathy.
Kleopa KA et al.
Neuroscience Letters, 2015
GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.
Abrams CK et al.
Cell and Tissue Research, 2015
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
Schiza N et al.
Human Molecular Genetics, 2015
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Liu Y et al.
Plos One, 2015
Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.
Abrams CK et al.
The Journal of Biological Chemistry, 2013
Structural basis for the selective permeability of channels made of communicating junction proteins.
Ek-Vitorin JF et al.
Biochimica Et Biophysica Acta, 2013
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA et al.
Brain Research, 2012