Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 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
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
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
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Liu Y et al.
Molecular Genetics & Genomic Medicine, 2020
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Pipis M et al.
Nature Reviews. Neurology, 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
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L et al.
Clinical Genetics, 2017
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorefice L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
Connexins, gap junctions and peripheral neuropathy.
Kleopa KA et al.
Neuroscience Letters, 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
X-linked Charcot-Marie-Tooth disease.
Scherer SS et al.
Journal of the Peripheral Nervous System : Jpns, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
The role of gap junctions in Charcot-Marie-Tooth disease.
Kleopa KA
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
Chen SD et al.
Muscle & Nerve, 2011
Phenotype expression in women with CMT1X.
Siskind CE et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Molecular mechanisms of gap junction mutations in myelinating cells.
Sargiannidou I et al.
Histology and Histopathology, 2010
[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].
Khidiianova IM et al.
Genetika, 2008
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Mandich P et al.
Journal of Human Genetics, 2008
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
Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.
Zhang RX et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2005
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
[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
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
[X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].
Luo W et al.
Zhonghua Nei Ke Za Zhi, 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
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
Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Gutierrez A et al.
Muscle & Nerve, 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
Altered trafficking of mutant connexin32.
Deschênes SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1997