Browsing 4 Medizinische Fakultät by Author "Uysal, Betül"

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betuel; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xin, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C. (2018)
Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation

Schwarz, Niklas; Uysal, Betuel; Rosa, Filip; Loeffler, Heidi; Mau-Holzmann, Ulrike A.; Liebau, Stefan; Lerche, Holger (2019)
Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS plus carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p. Leu46Met) mutation

Haag, Carolin; Uysal, Betuel; Marquetand, Justus; Loeffler, Heidi; Mau-Holzmann, Ulrike A.; Lerche, Holger; Schwarz, Niklas (2023)
Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices

Wickham, Jenny; Corna, Andrea; Schwarz, Niklas; Uysal, Betuel; Layer, Nikolas; Honegger, Juergen B.; Wuttke, Thomas, V; Koch, Henner; Zeck, Guenther (2020)
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment

Rosa, Filip; Dhingra, Ashutosh; Uysal, Betuel; Mendis, G. Dulini C.; Loeffler, Heidi; Elsen, Gina; Mueller, Stephan; Schwarz, Niklas; Castillo-Lizardo, Melissa; Cuddy, Claire; Becker, Felicitas; Heutink, Peter; Reid, Christopher A.; Petrou, Steven; Lerche, Holger; Maljevic, Snezana (2020)
Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

Schwarz, Niklas; Uysal, Betuel; Welzer, Marc; Bahr, Jacqueline C.; Layer, Nikolas; Loeffler, Heidi; Stanaitis, Kornelijus; Harshad, P. A.; Weber, Yvonne G.; Hedrich, Ulrike B. S.; Honegger, Juergen B.; Skodras, Angelos; Becker, Albert J.; Wuttke, Thomas, V; Koch, Henner (2019)

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