Rezultati - Mutluay Arslan
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy od Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke
Izdano 2015Artigo -
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Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies od Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli
Izdano 2017Artigo -
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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome od Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović
Izdano 2013Artigo