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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu 分享 收藏
Ckip-1 3′UTR alleviates prolonged sleep deprivation induced cardiac dysfunction by activating CaMKK2/AMPK/cTNI pathway Dong, Beilei; Xue, Rui; Li, Jianwei; Ling, Shukuan; Xing, Wenjuan; Liu, Zizhong; Yuan, Xinxin; Pan, Junjie; Du, Ruikai; Shen, Xinming; Zhang, Jingwen; Zhang, Youzhi; Li, Yingxian; Zhong, Guohui 分享 收藏
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Comparison between mono-tacrolimus and mono-glucocorticoid in the treatment of myasthenia gravis Fan, Zhirong; Lei, Lin; Su, Shengyao; Zhang, Shu; Xie, Nairong; Li, Ling; Lu, Yan; Di, Li; Wang, Min; Xu, Min; Shen, Xin-Ming; Da, Yuwei 分享 收藏
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Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain- specific manner Ohkawara, Bisei; Shen, XinMing; Selcen, Duygu; Nazim, Mohammad; Bril, Vera; Tarnopolsky, Mark A.; Brady, Lauren; Fukami, Sae; Amato, Anthony A.; Yis, Uluc; Ohno, Kinji; Engel, Andrew G. 分享 收藏
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Presence of antibodies against low-density lipoprotein receptor-related protein 4 and impairment of neuromuscular junction in a Chinese cohort of amyotrophic lateral sclerosis Lei, Lin; Shen, Xin-Ming; Wang, Shu-Yan; Lu, Yan; Wang, Suo-Bin; Chen, Hai; Liu, Zheng; Ouyang, Ya-Sheng; Duo, Jian-Ying; Da, Yu-Wei; Chen, Zhi-Guo 分享 收藏
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Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit Shen, Xin-Ming; Brengman, Joan M.; Shen, Shelley; Durmus, Hacer; Preethish-Kumar, Veeramani; Yuceyar, Nur; Vengalil, Seena; Nalini, Atchayaram; Deymeer, Feza; Sine, Steven M.; Engel, Andrew G. 分享 收藏
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