Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
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
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
Karakaya T et al.
Neurogenetics, 2022
GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
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
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Chen CX et al.
Clinical Genetics, 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 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
Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.
Nicholson PD et al.
Neurology. Genetics, 2017
Clinical and biophysical characterization of 19 GJB1 mutations.
Tsai PC et al.
Annals of Clinical and Translational Neurology, 2016
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Wang R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
Sahin N et al.
The International Journal of Neuroscience, 2003