Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

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Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

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  • Paroxysmale Dyskinesien
    Weber, Y. G.; Lerche, H. (2013)
  • Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
    Wolking, Stefan; Schulz, Herbert; Nies, Anne T.; McCormack, Mark; Schaeffeler, Elke; Auce, Pauls; Avbersek, Andreja; Becker, Felicitas; Klein, Karl M.; Krenn, Martin; Moller, Rikke S.; Nikanorova, Marina; Weckhuysen, Sarah; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Kunz, Wolfram S.; Marson, Anthony G.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Zimprich, Fritz; Weber, Yvonne G.; Krause, Roland; Sisodiya, Sanjay; Schwab, Matthias; Sander, Thomas; Lerche, Holger (2020)
  • Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
    Tang, Shan; Addis, Laura; Smith, Anna; Topp, Simon D.; Pendziwiat, Manuela; Mei, Davide; Parker, Alasdair; Agrawal, Shakti; Hughes, Elaine; Lascelles, Karine; Williams, Ruth E.; Fallon, Penny; Robinson, Robert; Cross, Helen J.; Hedderly, Tammy; Eltze, Christin; Kerr, Tim; Desurkar, Archana; Hussain, Nahin; Kinali, Maria; Bagnasco, Irene; Vassallo, Grace; Whitehouse, William; Goyal, Sushma; Absoud, Michael; Moller, Rikke S.; Helbig, Ingo; Weber, Yvonne G.; Marini, Carla; Guerrini, Renzo; Simpson, Michael A.; Pal, Deb K. (2020)
  • Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies
    Johannesen, Katrine; Marini, Carla; Pfeffer, Siona; Moller, Rikke S.; Dorn, Thomas; Niturad, Christina; Gardella, Elena; Weber, Yvonne; Sondergard, Marianne; Hjalgrim, Helle; Nikanorova, Mariana; Becker, Felicitas; Larsen, Line H. G.; Dahl, Hans A.; Maier, Oliver; Mei, Davide; Biskup, Saskia; Klein, Karl M.; Reif, Philipp S.; Rosenow, Felix; Elias, Abdallah F.; Hudson, Cindy; Helbig, Katherine L.; Schubert-Bast, Susanne; Scordo, Maria R.; Craiu, Dana; Djemie, Tania; Hoffman-Zacharska, Dorota; Caglayan, Hande; Helbig, Ingo; Serratosa, Jose; Striano, Pasquale; De Jonghe, Peter; Weckhuysen, Sarah; Suls, Arvid; Muru, Kai; Talvik, Inga; Talvik, Tiina; Muhle, Hiltrud; Borggraefe, Ingo; Rost, Imma; Guerrini, Renzo; Lerche, Holger; Lemke, Johannes R.; Rubboli, Guido; Maljevic, Snezana (2016)
  • PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
    Bayat, Allan; Knaus, Alexej; Juul, Annika Wollenberg; Dukic, Dejan; Gardella, Elena; Charzewska, Agnieszka; Clement, Emma; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Horn, Denise; Horton, Rachel; Hurst, Jane A.; Josifova, Dragana; Larsen, Line H. G.; Lascelles, Karine; Obersztyn, Ewa; Pagnamenta, Alistair; Pal, Deb K.; Pendziwiat, Manuela; Ryten, Mina; Taylor, Jenny; Vogt, Julie; Weber, Yvonne; Krawitz, Peter M.; Helbig, Ingo; Kini, Usha; Moller, Rikke S. (2019)
  • PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
    Schubert, Julian; Paravidino, Roberta; Becker, Felicitas; Berger, Andrea; Bebek, Nerses; Bianchi, Amedeo; Brockmann, Knut; Capovilla, Giuseppe; Bernardina, Bernardo Dalla; Fukuyama, Yukio; Hoffmann, Georg F.; Jurkat-Rott, Karin; Anttonen, Anna-Kaisa; Kurlemann, Gerhard; Lehesjoki, Anna-Elina; Lehmann-Horn, Frank; Mastrangelo, Massimo; Mause, Ulrike; Mueller, Stephan; Neubauer, Bernd; Puest, Burkhard; Rating, Dietz; Robbiano, Angela; Ruf, Susanne; Schroeder, Christopher; Seidel, Andreas; Specchio, Nicola; Stephani, Ulrich; Striano, Pasquale; Teichler, Jens; Turkdogan, Dilsad; Vigevano, Federico; Viri, Maurizio; Bauer, Peter; Zara, Federico; Lerche, Holger; Weber, Yvonne G. (2012)
  • PRRT2-related disorders: further PKD and ICCA cases and review of the literature
    Becker, Felicitas; Schubert, Julian; Striano, Pasquale; Anttonen, Anna-Kaisa; Liukkonen, Elina; Gaily, Eija; Gerloff, Christian; Mueller, Stephan; Heussinger, Nicole; Kellinghaus, Christoph; Robbiano, Angela; Polvi, Anne; Zittel, Simone; von Oertzen, Tim J.; Rostasy, Kevin; Schoels, Ludger; Warner, Tom; Muenchau, Alexander; Lehesjoki, Anna-Elina; Zara, Federico; Lerche, Holger; Weber, Yvonne G. (2013)
  • Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study
    Bayat, Allan; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Korff, Christian M.; Thomas, Ashley; Bosselmann, Christian; Weber, Yvonne; Gardella, Elena; Lund, Allan M.; de Sain-van der Velden, Monique G. M.; Moller, Rikke S. (2022)
  • Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies : an exome-based case-control study
    May, Patrick; Girard, Simon; Harrer, Merle; Bobbili, Dheeraj R.; Schubert, Julian; Wolking, Stefan; Becker, Felicitas; Lachance-Touchette, Pamela; Meloche, Caroline; Gravel, Micheline; Niturad, Cristina E.; Knaus, Julia; De Kovel, Carolien; Toliat, Mohamad; Polvi, Anne; Iacomino, Michele; Guerrero-Lopez, Rosa; Baulac, Stephanie; Marini, Carla; Thiele, Holger; Altmueller, Janine; Jabbari, Kamel; Ruppert, Ann-Kathrin; Jurkowski, Wiktor; Lal, Dennis; Rusconi, Raffaella; Cestele, Sandrine; Terragni, Benedetta; Coombs, Ian D.; Reid, Christopher A.; Striano, Pasquale; Caglayan, Hande; Siren, Auli; Everett, Kate; Moller, Rikke S.; Hjalgrim, Helle; Muhle, Hiltrud; Helbig, Ingo; Kunz, Wolfram S.; Weber, Yvonne G.; Weckhuysen, Sarah; De Jonghe, Peter; Sisodiya, Sanjay M.; Nabbout, Rima; Franceschetti, Silvana; Coppola, Antonietta; Vari, Maria S.; Trenite, Dorothee Kasteleijn-Nolst; Baykan, Betul; Ozbek, Ugur; Bebek, Nerses; Klein, Karl M.; Rosenow, Felix; Nguyen, Dang K.; Dubeau, Francois; Carmant, Lionel; Lortie, Anne; Desbiens, Richard; Clement, Jean-Francois; Cieuta-Walti, Cecile; Sills, Graeme J.; Auce, Pauls; Francis, Ben; Johnson, Michael R.; Marson, Anthony G.; Berghuis, Bianca; Sander, Josemir W.; Avbersek, Andreja; McCormack, Mark; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Krenn, Martin; Zimprich, Fritz; Peter, Sarah; Nikanorova, Marina; Kraaij, Robert; van Rooij, Jeroen; Balling, Rudi; Ikram, M. Arfan; Uitterlinden, Andre G.; Avanzini, Giuliano; Schorge, Stephanie; Petrou, Steven; Mantegazza, Massimo; Sander, Thomas; LeGuern, Eric; Serratosa, Jose M.; Koeleman, Bobby P. C.; Palotie, Aarno; Lehesjoki, Anna-Elina; Nothnagel, Michael; Nuernberg, Peter; Maljevic, Snezana; Zara, Federico; Cossette, Patrick; Krause, Roland; Lerche, Holger (2018)
  • Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
    Lal, Dennis; Trucks, Holger; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; de Kovel, Carolien G. F.; Visscher, Frank; Weber, Yvonne G.; Lerche, Holger; Becker, Felicitas; Schankin, Christoph J.; Neubauer, Bernd A.; Surges, Rainer; Kunz, Wolfram S.; Zimprich, Fritz; Franke, Andre; Illig, Thomas; Ried, Janina S.; Leu, Costin; Nuernberg, Peter; Sander, Thomas (2013)
  • Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies
    Balestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D.; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G.; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Moller, Rikke S.; Riva, Antonella; Striano, Pasquale; Zara, Federico; Hemingway, Cheryl; Marini, Carla; Rosati, Anna; Mei, Davide; Montomoli, Martino; Guerrini, Renzo; Cross, J. Helen; Sisodiya, Sanjay M. (2021)
  • Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
    Hardies, Katia; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Asselbergh, Bob; Geuens, Thomas; Deconinck, Tine; Azmi, Abdelkrim; May, Patrick; Brilstra, Eva; Becker, Felicitas; Barisic, Nina; Craiu, Dana; Braun, Kees P. J.; Lal, Dennis; Thiele, Holger; Schubert, Julian; Weber, Yvonne; van't Slot, Ruben; Nuernberg, Peter; Balling, Rudi; Timmerman, Vincent; Lerche, Holger; Maudsley, Stuart; Helbig, Ingo; Suls, Arvid; Koeleman, Bobby P. C.; De Jonghe, Peter (2015)
  • Reduced REM sleep: a potential biomarker for epilepsy - a retrospective case-control study
    Sadak, Ufuk; Honrath, Philipp; Ermis, Ummehan; Heckelmann, Jan; Meyer, Tareq; Weber, Yvonne; Wolking, Stefan (2022)
  • Satisfaction with and reliability of in-hospital video-EEG monitoring systems in epilepsy diagnosis - A German multicenter experience
    Willems, Laurent M.; Baier, Hartmut; Bien, Christian G.; Boesebeck, Frank; Duempelmann, Matthias; Hamer, Hajo M.; Kellinghaus, Christoph; Knake, Susanne; Schreiber, Melanie; Staack, Anke Maren; Surges, Rainer; Tergau, Frithjof; von Podewils, Felix; Weber, Yvonne; Wehner, Tim; Winter, Yaroslav; Zollner, Johann Philipp; Strzelczyk, Adam; Rosenow, Felix (2021)
  • Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
    Galer, Peter D.; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E.; Pendziwiat, Manuela; Helbig, Katherine L.; Ellis, Colin A.; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H.; Krause, Roland; Weber, Yvonne; Helbig, Ingo (2020)
  • Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
    Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brunger, Tobias; Hedrich, Ulrike B. S.; Augustijn, Paul B.; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J.; Bruria, Ben Zeev; Doyle, Michael G.; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S.; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S.; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S.; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A.; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M.; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne (2022)
  • SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG
    von Stuelpnagel, Celina; Funke, Claudia; Haberl, Caroline; Hoertnagel, Konstanze; Juengling, Jerome; Weber, Yvonne G.; Staudt, Martin; Kluger, Gerhard (2015)
  • Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
    Heyne, Henrike O.; Artomov, Mykyta; Battke, Florian; Bianchini, Claudia; Smith, Douglas R.; Liebmann, Nora; Tadigotla, Vasisht; Stanley, Christine M.; Lal, Dennis; Rehm, Heidi; Lerche, Holger; Daly, Mark J.; Helbig, Ingo; Biskup, Saskia; Weber, Yvonne G.; Lemke, Johannes R. (2019)
  • Targeted next generation sequencing as a diagnostic tool in epileptic disorders
    Lemke, Johannes R.; Riesch, Erik; Scheurenbrand, Tim; Schubach, Max; Wilhelm, Christian; Steiner, Isabelle; Hansen, Joerg; Courage, Carolina; Gallati, Sabina; Buerki, Sarah; Strozzi, Susi; Simonetti, Barbara Goeggel; Grunt, Sebastian; Steinlin, Maja; Alber, Michael; Wolff, Markus; Klopstock, Thomas; Prott, Eva C.; Lorenz, Ruediger; Spaich, Christiane; Rona, Sabine; Lakshminarasimhan, Maya; Kroell, Judith; Dorn, Thomas; Kraemer, Guenter; Synofzik, Matthis; Becker, Felicitas; Weber, Yvonne G.; Lerche, Holger; Boehm, Detlef; Biskup, Saskia (2012)
  • Testing association of rare genetic variants with resistance to three common antiseizure medications
    Wolking, Stefan; Moreau, Claudia; Nies, Anne T.; Schaeffeler, Elke; McCormack, Mark; Auce, Pauls; Avbersek, Andreja; Becker, Felicitas; Krenn, Martin; Moller, Rikke S.; Nikanorova, Marina; Weber, Yvonne G.; Weckhuysen, Sarah; Cavalleri, Gianpiero L.; Delanty, Norman; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Kunz, Wolfram S.; Marson, Anthony G.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Zimprich, Fritz; Schwab, Matthias; Krause, Roland; Sisodiya, Sanjay M.; Cossette, Patrick; Girard, Simon L.; Lerche, Holger (2020)