Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

Lusakowska A.; Tonska K.; Sulek A.; Krysa W.; Szmidt-Salkowska E.; Kaminska A.

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Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

机译：肌阵挛性癫痫伴有模拟红肌营养不良症类型为2的衣衫red的红色纤维综合征：需要基因诊断

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《Neuromuscular disorders: NMD》 |2016年第2期|共1页
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Lusakowska A.; Tonska K.; Sulek A.; Krysa W.; Szmidt-Salkowska E.; Kaminska A.;
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正文语种 eng
中图分类神经病学;
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1. Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis [J] . Lusakowska A., Tonska K., Sulek A., Neuromuscular disorders: NMD . 2016,第Suppla2期

机译：肌阵挛性癫痫伴有模拟红肌营养不良症类型为2的衣衫red的红色纤维综合征：需要基因诊断
2. Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers [J] . Sun Yeong Park, Se Hoon Kim, Young-Mock Lee Frontiers in Neurology . 2017,第2009期

机译：在没有衣衫Red的红色纤维的情况下与衣衫with的红色纤维综合征相关的肌阵挛癫痫的分子诊断。
3. Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes. [J] . Tawakol A, Sims K, MacRae C, Coronary artery disease . 2003,第3期

机译：线粒体肌病，脑病，乳酸性酸中毒，中风样发作/肌阵挛性癫痫，衣衫and的红色纤维和其他线粒体综合征的人的心肌流量调节。
4. Diagnosis of Myotonic Dystrophy Based on Resting State fMRI Using Convolutional Neural Networks [C] . Tahereh Kamali, Katharine A. Hagerman, John W. Day, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2020

机译：基于卷积神经网络的静止状态功能磁共振成像对强直性肌营养不良的诊断
5. RNAi Screening of the Kinome Identifies PACT as a Novel Genetic Modifier of Foci Integrity in Myotonic Dystrophy type 1. [D] . O'Reilly, Sean. 2014

机译：RNAi筛查的基因组确定PACT是1型强直性营养不良中病灶完整性的新型遗传修饰因子。
6. Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers [O] . Sun Yeong Park, Se Hoon Kim, Young-Mock Lee 2017

机译：在没有衣衫Red的红色纤维的情况下与衣衫pil的红色纤维综合征相关的肌阵挛癫痫的分子诊断。
7. Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers [O] . Sun Yeong Park, Se Hoon Kim, Young-Mock Lee 2017

机译：没有粗糙红色纤维的肌阵挛性癫痫伴有褴褛红色纤维综合征的分子诊断

Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

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