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Altered Cerebello‐Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1
Movement Disorders ( IF 8.6 ) Pub Date : 2020-03-04 , DOI: 10.1002/mds.28014
Bo Wang 1 , Jue Wang 2, 3 , Zhidong Cen 1 , Wei Wei 2, 3 , Fei Xie 4 , You Chen 1 , Haiyang Sun 2, 3 , Yunsong Hu 2, 3 , Dehao Yang 1 , Yuting Lou 5 , Xinhui Chen 1 , Zhiyuan Ouyang 1 , Si Chen 1 , Haotian Wang 1 , Lebo Wang 1 , Shuang Wang 1 , Xia Qiu 1 , Yao Ding 1 , Houmin Yin 1 , Sheng Wu 1 , Baorong Zhang 1 , Yu-Feng Zang 2, 3 , Wei Luo
Affiliation  

Intronic pentanucleotide insertion in the sterile alpha motif domain‐containing 12 gene was recently identified as the genetic cause of familial cortical myoclonic tremor with epilepsy type 1.

中文翻译:

家族性皮质肌阵挛性震颤伴 1 型癫痫的小脑运动网络改变

最近,在含有 12 基因的不育 α 基序结构域中插入内含子五核苷酸被确定为 1 型癫痫家族性皮质肌阵挛性震颤的遗传原因。
更新日期:2020-03-04
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