Associated Papers
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 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
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Butler J et al.
Frontiers in Cellular Neuroscience, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in 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
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
Wen Q et al.
Frontiers in Neurology, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).
Son D et al.
Stem Cell Research, 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
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease.
Appu M et al.
Muscle & Nerve, 2014
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Kleopa KA et al.
Brain Research, 2012
X-linked Charcot-Marie-Tooth disease.
Scherer SS et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
Chen SD et al.
Muscle & Nerve, 2011
Molecular mechanisms of gap junction mutations in myelinating cells.
Sargiannidou I et al.
Histology and Histopathology, 2010
A V139M mutation also causes the reversible CNS phenotype in CMTX.
Halbrich M et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2008
Delayed liver regeneration and increased susceptibility to chemical hepatocarcinogenesis in transgenic mice expressing a dominant-negative mutant of connexin32 only in the liver.
Dagli ML et al.
Carcinogenesis, 2004
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N et al.
Brain : a Journal of Neurology, 2003
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
Involvement of gap junctions in tumor suppression: analysis of genetically-manipulated mice.
Omori Y et al.
Mutation Research, 2001
Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.
Abrams CK et al.
Brain Research, 2001
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.
Martin PE et al.
Journal of Neurochemistry, 2000
Connexin32 in the Peripheral Nervous System: Functional Analysis of Mutations Associated with X-linked Charcot-Marie-Tooth Syndrome and Implications for the Pathophysiology of the Disease.
Nicholson SM et al.
Annals of the New York Academy of Sciences, 1999
Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease.
Nicholson SM et al.
Annals of the New York Academy of Sciences, 1999
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Nelis E et al.
Neurogenetics, 1999
Common themes in peripheral neuropathy disease genes.
Snipes GJ et al.
Cell Biology International, 1998
Role of connexin (gap junction) genes in cell growth control: approach with site-directed mutagenesis and dominant-negative effects.
Omori Y et al.
Toxicology Letters, 1998
Altered trafficking of mutant connexin32.
Deschênes SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1997
Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes.
Duflot-Dancer A et al.
Oncogene, 1997
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Silander K et al.
Human Genetics, 1997
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Bergoffen J et al.
Science (new York, N.y.), 1993
GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.
Kovale S et al.
Case Reports in Neurology, 0
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0