Current status of the congenital myasthenic syndromes von Engel, Andrew G

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Microvascular alterations and the role of complement in dermatomyositis von Lahoria, Rajat, Selcen, Duygu, Engel, Andrew G

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Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability von Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Engel, Andrew G

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Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM von CHAHIN, Nizar, ENGEL, Andrew G

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Mutations in ZASP define a novel form of muscular dystrophy in humans von Selcen, Duygu, Engel, Andrew G.

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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 von Nilsson, Johanna, Schoser, Benedikt, Laforet, Pascal, Kalev, Ognian, Lindberg, Christopher, Romero, Norma B., Dávila López, Marcela, Akman, Hasan O., Wahbi, Karim, Iglseder, Stephan, Eggers, Christian, Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders

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Congenital myasthenic syndrome in Israel: Genetic and clinical characterization von Aharoni, Sharon, Sadeh, Menachem, Shapira, Yehuda, Edvardson, Simon, Daana, Muhannad, Dor-Wollman, Talia, Mimouni-Bloch, Aviva, Halevy, Ayelet, Cohen, Rony, Sagie, Liora, Argov, Zohar, Rabie, Malcolm, Spiegel, Ronen, Chervinsky, Ilana, Orenstein, Naama, Engel, Andrew G, Nevo, Yoram

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SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome von Rahman, Mohammad Alinoor, Azuma, Yoshiteru, Nasrin, Farhana, Takeda, Jun-ichi, Nazim, Mohammad, Ahsan, Khalid Bin, Masuda, Akio, Engel, Andrew G., Ohno, Kinji

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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights von Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G.

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Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features von Niu, Zhiyv, Pontifex, Carly Sabine, Berini, Sarah, Hamilton, Leslie E, Naddaf, Elie, Wieben, Eric, Aleff, Ross A, Martens, Kristina, Gruber, Angela, Engel, Andrew G, Pfeffer, Gerald, Milone, Margherita

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Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia von Engel, Andrew G, Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Harper, C Michel

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HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA von Rahman, Mohammad Alinoor, Masuda, Akio, Ohe, Kenji, Ito, Mikako, Hutchinson, David O., Mayeda, Akila, Engel, Andrew G., Ohno, Kinji

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Correction to: The Therapy of Congenital Myasthenic Syndromes von Engel, Andrew G.

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Recent advances in Cys-loop receptor structure and function von Sine, Steven M, Engel, Andrew G

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Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome von Ohno, Kinji, Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Harper, C. Michel, Tsujino, Akira, Milone, Margherita

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Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain- specific manner von 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.

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Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy von Kao, Justin C, Milone, Margherita, Selcen, Duygu, Shen, Xin-Ming, Engel, Andrew G, Liewluck, Teerin

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Congenital myasthenic syndromes: Progress over the past decade von Engel, Andrew G., Ohno, Kinji, Sine, Steven M.

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Novel synaptobrevin‐1 mutation causes fatal congenital myasthenic syndrome von Shen, Xin‐Ming, Scola, Rosana H., Lorenzoni, Paulo J., Kay, Cláudia S. K., Werneck, Lineu C., Brengman, Joan, Selcen, Duygu, Engel, Andrew G.

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Human Endplate Acetylcholinesterase Deficiency Caused by Mutations in the Collagen-Like Tail Subunit (ColQ) of the Asymmetric Enzyme von Ohno, Kinji, Brengman, Joan, Tsujino, Akira, Engel, Andrew G.

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