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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2024. (Total: 234193Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Charcot-Marie-Tooth Disease and IGHMBP2[original query]
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
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
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
European journal of neurology 2021 7 28 (11): 3774-3783.
Xie Yongzhi, Lin Zhiqiang, Liu Lei, Li Xiaobo, Huang Shunxiang, Zhao Huadong, Wang Binghao, Zeng Sen, Cao Wanqian, Li Lu, Zhu Xiying, Huang Siwei, Yang Honglan, Wang Mengli, Hu Zhengmao, Wang Junling, Guo Jifeng, Shen Lu, Jiang Hong, Zuchner Stephan, Tang Beisha, Zhang Ru
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