Associated Papers
Cemdomespib Therapy Slows the Progression of Neuromuscular Weakness and Demyelination in the R75W-Connexin 32 Animal Model of Charcot-Marie-Tooth 1X Disease.
Lang RM et al.
Acs Pharmacology & Translational Science, 2025
Calcium Regulation of Connexin Hemichannels.
Bayraktar E et al.
International Journal of Molecular Sciences, 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
Cellular mechanisms of connexin-based inherited diseases.
Laird DW et al.
Trends in Cell Biology, 2022
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
Carrer A et al.
Human Molecular Genetics, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
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
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB et al.
Neurology, 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
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
The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.
Dubourg O et al.
Neuromuscular Disorders : Nmd, 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
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Nelis E et al.
Human Mutation, 1999
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
Birouk N et al.
Neurology, 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
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