Associated Papers
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Effectiveness and Clinical Outcomes of PGT-M Using Karyomapping for Successful Pregnancy and Birth in Various Types of Charcot-Marie-Tooth Disease.
Han G et al.
Journal of Personalized Medicine, 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
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
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
Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
Vogt B et al.
Journal of Neurology, 2020
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
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
X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
Kim JK et al.
Medicine, 2017
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
Hong YB et al.
Journal of the Peripheral Nervous System : Jpns, 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
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
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
[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
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
Shahrizaila N et al.
Muscle & Nerve, 2014
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H et al.
Molecular Syndromology, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.
Montenegro G et al.
Annals of Neurology, 2011
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.
Bartsch O et al.
Audiology & Neuro-otology, 2010
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Gap-junction channels dysfunction in deafness and hearing loss.
Martínez AD et al.
Antioxidants & Redox Signaling, 2009
Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.
Baaj Y et al.
Research Letters in Biochemistry, 2009
Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.
Park HK et al.
Clinical Genetics, 2006
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
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
Wang HL et al.
Journal of Neurochemistry, 2003
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
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
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES et al.
American Journal of Medical Genetics, 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
Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.
Ressot C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1998
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM et al.
American Journal of Human Genetics, 1998
Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Rouger H et al.
Human Mutation, 1997
A comment on the analysis of families with prelinqual deafness.
Kimberling S et al.
American Journal of Human Genetics, 1989