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Journal Article
Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique 
ORCID: 0000-0002-9696-4562, Timal, Sharita, Reunert, Janine, Rust, Stephan, Perez, Belen, Vicogne, Dorothee, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel ORCID: 0000-0001-9679-7955, Perez-Cerda, Celia, Medrano, Celia ORCID: 0000-0001-9634-7874, Arnoldy, Andrea, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce ORCID: 0000-0001-9989-9236, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A. W., Holleboom, Adriaan G., Nassogne, Marie-Cecile ORCID: 0000-0001-6936-1611, Sokal, Etienne ORCID: 0000-0001-5597-4708, Salomon, Jody, van den Bogaart, Geert ORCID: 0000-0003-2180-6735, Drenth, Joost P. H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert ORCID: 0000-0001-6710-1912, Foulquier, Francois, Marquardt, Thorsten and Lefeber, Dirk J.
(2016).
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Am. J. Hum. Genet., 98 (2).
S. 310 - 322.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Schroeter, Michael, Berger, Benjamin, Blaes, Franz, Hagenacker, Tim, Jander, Sebastian, Kaiser, Julia, Kalischewski, Petra, Lee, De-Hyung, Ruck, Tobias ORCID: 0000-0001-6332-8650, Schara, Ulrike, Urban, Peter and Meisel, Andreas ORCID: 0000-0001-7233-5342
(2021).
A Sum Score to Define Therapy-Refractory Myasthenia Gravis: A German Consensus.
J. Cent. Nerv. Syst. Dis., 13.
LONDON:
SAGE PUBLICATIONS LTD.
ISSN 1179-5735
Stascheit, Frauke ORCID: 0000-0001-5306-7880, Grittner, Ulrike ORCID: 0000-0003-2595-0224, Hoffmann, Sarah ORCID: 0000-0001-9549-2594, Mergenthaler, Philipp, Schroeter, Michael, Ruck, Tobias, Pawlitzki, Mark, Blaes, Franz, Kaiser, Julia, Schara, Ulrike, Della-Marina, Adela, Thieme, Andrea, Hagenacker, Tim, Jacobi, Christian, Berger, Benjamin ORCID: 0000-0003-2654-2898, Urban, Peter P., Knop, Karl Christian, Schalke, Berthold, Lee, De-Hyung, Kalischewski, Petra, Wiendl, Heinz and Meisel, Andreas ORCID: 0000-0001-7233-5342
(2023).
Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis.
J. Neurol., 270 (1).
S. 1 - 13.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1432-1459
Vill, Katharina, Schwartz, Oliver, Blaschek, Astrid, Glaeser, Dieter, Nennstiel, Uta, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Burggraf, Siegfried, Roeschinger, Wulf, Becker, Marc, Czibere, Ludwig, Durner, Jurgen, Eggermann, Katja, Olgemoeller, Bernhard, Harms, Erik, Schara, Ulrike, Koelbel, Heike and Mueller-Felber, Wolfgang
(2021).
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years.
Orphanet J. Rare Dis., 16 (1).
LONDON:
BMC.
ISSN 1750-1172
Wang, Haicui, Salter, Claire G., Refai, Osama ORCID: 0000-0002-5870-5236, Hardy, Holly, Barwick, Katy E. S., Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A., Harlalka, Gaurav, Taylan, Fulya ORCID: 0000-0002-2907-0235, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H., Karakaya, Mert, Stueve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A., Abdul-Rahman, Omar A., Chilton, John, Blakely, Randy D., Baple, Emma L., Cirak, Sebahattin and Crosby, Andrew H.
(2017).
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain, 140.
S. 2838 - 2851.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156