Search Results - Eva M Reinthaler
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RBFOX1 and RBFOX3 mutations in rolandic epilepsy. by Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A Neubauer
Published in PLoS ONE (2013-01-01)Get full text
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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. by Carles Vilariño-Güell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Fuencisla Matesanz, Elena Urcelay, Koen Vandenbroeck, Laura Leyva, Denis Gris, Charbel Massaad, Jacqueline A Quandt, Anthony L Traboulsee, Mary Encarnacion, Cecily Q Bernales, Jordan Follett, Irene M Yee, Maria G Criscuoli, Angela Deutschländer, Eva M Reinthaler, Tobias Zrzavy, Elisabetta Mascia, Andrea Zauli, Federica Esposito, Antonio Alcina, Guillermo Izquierdo, Laura Espino-Paisán, Jorge Mena, Alfredo Antigüedad, Patricia Urbaneja-Romero, Jesús Ortega-Pinazo, Weihong Song, A Dessa Sadovnick
Published in PLoS Genetics (2019-06-01)Get full text
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. by Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer
Published in PLoS ONE (2016-01-01)Get full text
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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. by Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander
Published in PLoS Genetics (2015-05-01)Get full text
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