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Stxbp1/Munc18-1 haploinsufficiency in mice recapitulates key features of STXBP1 encephalopathy and impairs cortical inhibition

机译：STXBP1 / MUNG18-1小鼠的HAPLOUSUBUCK概括了STXBP1脑病的关键特征，损害皮质抑制作用

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Wu Chen; Zhao-Lin Cai; Eugene S. Chao; Hongmei Chen; Shuang Hao; Hsiao-Tuan Chao; Joo Hyun Kim; Jessica E. Messier; Huda Y. Zoghbi; Jianrong Tang; John W. Swann; Mingshan Xue;
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1. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy [J] . JovanaKova?evi?, GregoireMaroteaux, DesireeSchut, Brain: A journal of neurology . 2018,第5期

机译：蛋白质不稳定性，臭氧水能和皮质超兴奋性提交STXBP1脑病
2. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy [J] . JovanaKova?evi?, GregoireMaroteaux, DesireeSchut, Brain: A journal of neurology . 2018,第5期

机译：蛋白质不稳定性，臭氧水能和皮质超兴奋性提交STXBP1脑病
3. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. [J] . Saitsu H, Kato M, Mizuguchi T, Nature Genetics . 2008,第6期

机译：编码STXBP1（MUNC18-1）的基因的从头突变引起早期婴儿癫痫性脑病。
4. Predicting Progression from Mild Cognitive Impairment to Alzheimer’s Disease using MRI-based Cortical Features and a Two-State Markov Model [C] . Eleonora Ficiarà, Valentino Crespi, Shruti Prashant Gadewar, IEEE International Symposium on Biomedical Imaging . 2021

机译：使用基于MRI的皮质特征和双态马尔可夫模型预测对阿尔茨海默病的轻度认知障碍的进展
5. Does long-term protein phosphatase 2A inhibition in mice dysregulate peripheral glucose homeostasis, lower hepatic glycogen content, and impair insulin-mediated signal transduction in the liver? [D] . Lee, Juyeon. 2016

机译：小鼠长期蛋白质磷酸酶2A抑制作用是否会异常调节外周葡萄糖稳态，降低肝糖原含量并损害肝脏中胰岛素介导的信号转导？
6. Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy [O] . Wu Chen, Zhao-Lin Cai, Eugene S Chao, 2020

机译：Stxbp1 / Munc18-1单倍体不足会抑制STXBP1脑病的抑制并介导STXBP1脑病的关键神经系统特征
7. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations [O] . Milh Mathieu, Villeneuve Nathalie, Chouchane Mondher, 2011

机译：早期发作的癫痫性脑病和STXBP1突变患者的癫痫和非癫痫特征

Stxbp1/Munc18-1 haploinsufficiency in mice recapitulates key features of STXBP1 encephalopathy and impairs cortical inhibition

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