HuGE Literature Finder
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Records 1-5
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Chinese medical journal 2018 Jan 131 (2): 151-155. Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru- |
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017 Mar . Lorena Lorefice, Rita Murru M, Giancarlo Coghe, Giuseppe Fenu, Daniela Corongiu, Jessica Frau, Stefania Tranquilli, Paolo Tacconi, Alessandro Vannelli, Giovanni Marrosu, Elena Mamusa, Eleonora Cocco, Giovanna Marrosu |
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.
Neuromuscular disorders : NMD 2016 Nov . Liu Lei, Li Xiaobo, Hu Zhengmao, Mao Xiao, Zi Xiaohong, Xia Kun, Tang Beisha, Zhang Ru |
Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.
Clinica chimica acta; international journal of clinical chemistry 2015 Oct . Wang Rui, He Jin, Li Jing-Jin, Ni Wang, Wu Zhi-Ying, Chen Wan-Jin, Wang |
Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.
Acta neurologica Scandinavica 2015 Jul . Pasanen P, Myllykangas L, Pöyhönen M, Kiuru-Enari S, Tienari P J, Laaksovirta H, Toppila J, Ylikallio E, Tyynismaa H, Auranen |
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