日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

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

增进对囊泡相关膜蛋白1相关先天性肌无力综合征的理解：表型见解、对3,4-二氨基吡啶的良好反应以及5例新病例的临床特征

期刊:Pediatric Neurology
影响因子:2.1
doi:10.1016/j.pediatrneurol.2024.04.027
Natera-de Benito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Afonso Ribeiro, Joana; Fernández-Mayoralas, Daniel M; Ortez, Carlos; Martorell, Loreto; Estévez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G; Nascimento, Andres; Lochmüller, Hanns; Selcen, Duygu
囊泡
发表日期：2024
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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review

由35个基因引起的先天性重症肌无力综合征的临床和病理特征——一项综合综述

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24043730
Ohno, Kinji; Ohkawara, Bisei; Shen, Xin-Ming; Selcen, Duygu; Engel, Andrew G
重症肌无力
免疫/内分泌
发表日期：2023
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Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia

γ-乙酰胆碱受体和ε-乙酰胆碱受体门控功能障碍分别导致埃斯科巴综合征和快通道重症肌无力。

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.51756
Shen, Xin-Ming; Nakata, Tomohiko; Mizuno, Seiji; Imoto, Issei; Selcen, Duygu; Ohno, Kinji; Engel, Andrew G
信号转导
重症肌无力
免疫/内分泌
发表日期：2023
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Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia

慢通道重症肌无力中重复复合肌肉动作电位发生率及治疗效果的决定因素

期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000010734
Di, Li; Chen, Hai; Lu, Yan; Selcen, Duygu; Engel, Andrew G; Da, Yuwei; Shen, Xin-Ming
重症肌无力
免疫/内分泌
发表日期：2020
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A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating

一种由乙酰胆碱受体β亚基突变引起的新型快速通道重症肌无力揭示了细胞内M1-M2连接子对通道门控的亚基特异性贡献

期刊:Experimental Neurology
影响因子:4.2
doi:10.1016/j.expneurol.2020.113375
Shen, Xin-Ming; Di, Li; Shen, Shelley; Zhao, Yuying; Neumeyer, Ann M; Selcen, Duygu; Sine, Steven M; Engel, Andrew G
信号转导
细胞生物学
重症肌无力
免疫/内分泌
发表日期：2020
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Correction to: The Therapy of Congenital Myasthenic Syndromes

更正：先天性重症肌无力综合征的治疗

期刊:Neurotherapeutics
影响因子:6.9
doi:10.1007/s13311-018-00672-6
Engel, Andrew G
重症肌无力
免疫/内分泌
发表日期：2019
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Slow-channel myasthenia due to novel mutation in M2 domain of AChR delta subunit

由乙酰胆碱受体δ亚基M2结构域新突变引起的慢通道重症肌无力

期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.50902
Shen, Xin-Ming; Milone, Margherita; Wang, Hang-Long; Banwell, Brenda; Selcen, Duygu; Sine, Steven M; Engel, Andrew G
信号转导
重症肌无力
免疫/内分泌
发表日期：2019
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Congenital myasthenic syndrome due to rapsyn deficiency: A case report with a new mutation and compound heterozygosity

由rapsyn缺乏引起的先天性重症肌无力综合征：一例新突变和复合杂合病例报告

期刊:Medwave
影响因子:0.8
doi:10.5867/medwave.2019.05.7645
Espinoza, Ivan O; Reynoso, Carolina; Chávez, Giulliana; Engel, Andrew G
重症肌无力
免疫/内分泌
发表日期：2019
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Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

成人神经科门诊中的先天性肌无力综合征：诊断和治疗之路漫长

期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000006478
Kao, Justin C; Milone, Margherita; Selcen, Duygu; Shen, Xin-Ming; Engel, Andrew G; Liewluck, Teerin
发表日期：2018
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Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit

导致先天性重症肌无力的突变揭示了乙酰胆碱受体ε亚基中的主要偶联通路

期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.97826
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
信号转导
重症肌无力
免疫/内分泌
发表日期：2018
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