Associated Papers
Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
Zhong J et al.
Frontiers in Genetics, 2026
Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.
Qi C et al.
Science Advances, 2023
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Systematic review of CMTX1 patients with episodic neurological dysfunction.
Tian D et al.
Annals of Clinical and Translational Neurology, 2021
Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
Liu X et al.
Frontiers in Neurology, 2020
The role of oligodendrocyte gap junctions in neuroinflammation.
Papaneophytou C et al.
Channels (austin, Tex.), 2019
Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G et al.
Clinical Neurology and Neurosurgery, 2019
[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].
Shimizu C et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
What's the Function of Connexin 32 in the Peripheral Nervous System?
Bortolozzi M
Frontiers in Molecular Neuroscience, 2018
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 2017
Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
Olympiou M et al.
Acta Neuropathologica Communications, 2016
A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y et al.
Journal of Child Neurology, 2016
Connexins, gap junctions and peripheral neuropathy.
Kleopa KA et al.
Neuroscience Letters, 2015
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
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
Persistent CNS dysfunction in a boy with CMT1X.
Siskind C et al.
Journal of the Neurological Sciences, 2009
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Jeng LJ et al.
Molecular and Cellular Neurosciences, 2006
Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease.
Kassubek J et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2005