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
38179633 (PubMed )
Supplement: jcn-20-59-s001.pdf
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
37284795 (PubMed )
Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf
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
Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L et al.
Clinical Genetics, 2017
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
[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
[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
Zhan YJ et al.
Zhonghua Yi Xue Za Zhi, 2012
[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
Qiao XH et al.
Zhonghua Yi Xue Za Zhi, 2009
[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
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
Select a paper to view details