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A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

机译：线粒体T14709C的一种新型突变导致肌阵挛性癫痫，在中国患者中缠绕红纤维综合征

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Rui Ban; Jun-Hong Guo; Chuan-Qiang Pu; Qiang Shi; Hua-Xu Liu; Yu-Tong Zhang;
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1. A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient [J] . Rui Ban, Jun-Hong Guo, Chuan-Qiang Pu, 中华医学杂志（英文版） . 2018,第013期

机译：线粒体T14709C的新型突变导致一名中国患者的衣衫Red的红色纤维综合征肌阵挛性癫痫。
2. Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome - ScienceDirect [J] . Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Stem cell research . 2017,第2期

机译：一名40岁的线粒体DNA A8344G突变和MERRF（具有红色纤维衣衫my的肌阵挛性癫痫）综合征的40岁患者的诱导多能干细胞（iPSC）系产生-ScienceDirect
3. Broadening the phenotype of m.5703G＞A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome [J] . Jun Fu, Ming-Ming Ma, Mi Pang, 中华医学杂志（英文版） . 2019,第007期

机译：将线粒体肌病的线粒体tRNAAsn基因突变从线粒体肌病扩展到肌阵挛性癫痫伴红纤维综合征的m.5703G＞ A型
4. EEG-EMG coherence estimated using time-varying autoregressive models in movement-activated myoclonus in patients with progressive myoclonic epilepsies [C] . Panzica Ferruccio, Varotto Giulia, Canafoglia Laura, 32nd Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2010

机译：使用时变自回归模型估计进行性肌阵挛性癫痫患者运动激活的肌阵挛的脑电图-心电图相关性
5. Evaluation of the accuracy of quantitative models in predicting Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) mutations in a population-based sample of early-onset colorectal cancer patients [D] . Carpiniello, Lauren 2007

机译：在以人群为基础的早发性大肠癌患者样本中预测定量模型预测Lynch综合征（遗传性非息肉病性大肠直肠癌，DNA失配修复缺陷）的准确性
6. A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient [O] . Rui Ban, Jun-Hong Guo, Chuan-Qiang Pu, 2018

机译：线粒体T14709C的新型突变导致一名中国患者的衣衫Red的红色纤维综合征肌阵挛性癫痫。
7. Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome [O] . Jun Fu, Ming-Ming Ma, Mi Pang, 2019

机译：扩大M.5703G的表型>用线粒体肌病对线粒体肌病对肌阵挛性癫痫的突变突破红细胞综合征

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

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