HuGE Literature Finder
Records 1-3
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 |
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2015 Nov . Montecchiani Celeste, Pedace Lucia, Lo Giudice Temistocle, Casella Antonella, Mearini Marzia, Gaudiello Fabrizio, Pedroso José L, Terracciano Chiara, Caltagirone Carlo, Massa Roberto, St George-Hyslop Peter H, Barsottini Orlando G P, Kawarai Toshitaka, Orlacchio Anton |
Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.
Journal of child neurology 2014 Aug 29 (8): NP35-9. Lin Xiang, Zhang Qi-Jie, He Jin, Lin Min-Ting, Murong Shen-Xing, Wang Ning, Chen Wan-J |
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