Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F et al.
European Journal of Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).
Lousa M et al.
Journal of the Peripheral Nervous System : Jpns, 2019
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
Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Milley GM et al.
Neuromuscular Disorders : Nmd, 2016
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
Høyer H et al.
Biomed Research International, 2014
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
Genetic epidemiology of Charcot-Marie-Tooth in the general population.
Braathen GJ et al.
European Journal of Neurology, 2011
Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Brozková D et al.
Genetic Testing and Molecular Biomarkers, 2010
Gap junction disorders of myelinating cells.
Kleopa KA et al.
Reviews in the Neurosciences, 2010
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
Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL et al.
Neurobiology of Disease, 2004
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Azzedine H et al.
Neuromuscular Disorders : Nmd, 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
Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
Takashima H et al.
Acta Neurologica Scandinavica, 2003
Cellular mechanisms of connexin32 mutations associated with CNS manifestations.
Kleopa KA et al.
Journal of Neuroscience Research, 2002
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
Matsuyama W et al.
Journal of Human Genetics, 2001
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
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
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K et al.
Human Mutation, 1998
Altered trafficking of mutant connexin32.
Deschênes SM et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1997
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Bone LJ et al.
Neurobiology of Disease, 1997