Associated Papers
Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
Karakaya T et al.
Neurogenetics, 2022
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
Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.
Liang Y et al.
Bmc Neurology, 2019
X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
Hardy DI et al.
Neuropediatrics, 2019
Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
Chen B et al.
Clinical Neurology and Neurosurgery, 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
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
The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.
Wen Q et al.
Frontiers in Neurology, 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
Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY et al.
Chinese Medical Journal, 2017
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Abrams CK et al.
Scientific Reports, 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
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
[Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review].
Zhang HH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Gap junctions in inherited human disorders of the central nervous system.
Abrams CK et al.
Biochimica Et Biophysica Acta, 2012
X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
Kim Y et al.
Clinical Genetics, 2012
A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.
Sakaguchi H et al.
Journal of Neurology, 2011
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G et al.
European Journal of Human Genetics : Ejhg, 2009
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
Ouvrier R et al.
Muscle & Nerve, 2007
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Basri R et al.
Internal Medicine (tokyo, Japan), 2007
Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease.
Papadakis CE et al.
The Journal of Laryngology and Otology, 2003
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
Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.
Schelhaas HJ et al.
Neurology, 2002
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Boerkoel CF et al.
Annals of Neurology, 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
Neuronal KCNQ potassium channels: physiology and role in disease.
Jentsch TJ
Nature Reviews. Neuroscience, 2000
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
Stojkovic T et al.
Neurology, 1999
Episodic neurological dysfunction in hereditary peripheral neuropathy.
Kulkarni GB et al.
Annals of Indian Academy of Neurology, 0