Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Atrophy and GDAP1[original query] |
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[Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
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 |
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular medicine 2019 8 22 (1): 68-72. Deng Sheng, Feely Shawna M E, Shi Yong, Zhai Hong, Zhan Luna, Siddique Teepu, Deng Han-Xiang, Shy Michael |
Molecular analysis and clinical diversity of distal hereditary motor neuropathy. European journal of neurology 2020 4 27 (7): 1319-1326. Liu X, Duan X, Zhang Y, Sun A, Fan |
Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation. Journal of the peripheral nervous system : JPNS 2024 5 . Zhongzheng Li, Sen Zeng, Yongzhi Xie, Xiaobo Li, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Lei Liu, Mengli Wang, Qiaoyu Gong, Jun Liu, Pengfei Rong, Ruxu Zha |
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