Associated Papers
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 2024
Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Hertzog N et al.
Neural Regeneration Research, 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
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Therapeutic Development in Charcot Marie Tooth Type 1 Disease.
Miniou P et al.
International Journal of Molecular Sciences, 2021
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Zhao ZH et al.
Molecular Medicine Reports, 2019
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
Koutsis G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
GJB1 Mutation-A Disease Spectrum: Report of Case Series.
Niu J et al.
Frontiers in Neurology, 2019
Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
Yuan JH et al.
European Journal of Neurology, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 2017
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
Sun B et al.
Journal of the Peripheral Nervous System : Jpns, 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
Clinical and biophysical characterization of 19 GJB1 mutations.
Tsai PC et al.
Annals of Clinical and Translational Neurology, 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
[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
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
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.
Mones S et al.
Frontiers in Neuroscience, 2014
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
X-linked Charcot-Marie-Tooth disease.
Scherer SS et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Inflammatory demyelinating CNS disorder in a case of X-linked Charcot-Marie-Tooth disease: positive response to natalizumab.
Weishaupt JH et al.
Journal of Neurology, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Casasnovas C et al.
Clinical Genetics, 2006
Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease.
Bicego M et al.
Neurobiology of Disease, 2006
An amino-terminal lysine residue of rat connexin40 that is required for spermine block.
Lin X et al.
The Journal of Physiology, 2006
Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.
Huang Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
Beltramello M et al.
Nature Cell Biology, 2005
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels.
Kronengold J et al.
The Journal of General Physiology, 2003
[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].
Luo W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
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
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
A founder mutation in French-Canadian families with X-linked hereditary neuropathy.
Dupré N et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2001
The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels.
Trexler EB et al.
Biophysical Journal, 2000
A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients.
Da Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
[Ciguatera and peripheral neuropathy: a case report].
Derouiche F et al.
Revue Neurologique, 2000