Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

DSpace Repositorium (Manakin basiert)

Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

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  • A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy
    Hallmann, Kerstin; Zsurka, Gabor; Moskau-Hartmann, Susanna; Kirschner, Janbernd; Korinthenberg, Rudolf; Ruppert, Ann-Kathrin; Ozdemir, Ozkan; Weber, Yvonne; Becker, Felicitas; Lerche, Holger; Elger, Christian E.; Thiele, Holger; Nuernberg, Peter; Sander, Thomas; Kunz, Wolfram S. (2014)
  • A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation
    Boon, Paul; Vonck, Kristl; van Rijckevorsel, Kenou; El Tahry, Riem; Elger, Christian E.; Mullatti, Nandini; Schulze-Bonhage, Andreas; Wagner, Louis; Diehl, Beate; Hamer, Hajo; Reuber, Markus; Kostov, Hrisimir; Legros, Benjamin; Noachtar, Soheyl; Weber, Yvonne G.; Coenen, Volker A.; Rooijakkers, Herbert; Schijns, Olaf E. M. G.; Selway, Richard; Van Roost, Dirk; Eggleston, Katherine S.; Van Grunderbeek, Wim; Jayewardene, Amara K.; McGuire, Ryan M. (2015)
  • A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
    Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin A.; Huempfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Sterbova, Katalin; Hammer, Trine Bjorg; Moller, Rikke S.; Shinde, Deepali N.; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine L.; Haucke, Volker; Weber, Yvonne G.; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P. C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnan-Kivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, SekWon; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter (2019)
  • Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
    Allen, Andrew S.; Berkovic, Samuel F.; Bridgers, Joshua; Cossette, Patrick; Dlugos, Dennis; Epstein, Michael P.; Glauser, Tracy; Goldstein, David B.; Heinzen, Erin L.; Jiang, Yu; Johnson, Michael R.; Kuzniecky, Ruben; Lowenstein, Daniel H.; Marson, Anthony G.; Mefford, Heather C.; O'Brien, Terence J.; Ottman, Ruth; Petrou, Steven; Petrovski, Slave; Poduri, Annapurna; Ren, Zhong; Scheffer, Ingrid E.; Sherr, Elliott; Wang, Quanli; Balling, Rudi; Barisic, Nina; Baulac, Stephanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jaehn, Johanna; Klein, Karl Martin; Koeleman, Bobby; Komarek, Vladimir; Krause, Roland; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Moller, Rikke S.; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weber, Yvonne; Weckhuysen, Sarah; Zara, Federico; Abou-Khalil, Bassel; Alldredge, Brian K.; Amrom, Dina; Andermann, Eva; Andermann, Frederick; Bautista, Jocelyn F.; Berkovic, Samuel F.; Bluvstein, Judith; Cascino, Gregory D.; Consalvo, Damian; Crumrine, Patricia; Devinsky, Orrin; Dlugos, Dennis; Epstein, Michael P.; Fiol, Miguel E.; Fountain, Nathan B.; French, Jacqueline; Friedman, Daniel; Glauser, Tracy; Haas, Kevin; Haut, Sheryl R.; Hayward, Jean; Joshi, Sucheta; Kanner, Andres; Kirsch, Heidi E.; Kossoff, Eric H.; Kuperman, Rachel; Kuzniecky, Ruben; Lowenstein, Daniel H.; McGuire, Shannon M.; Motika, Paul V.; Novotny, Edward J.; Ottman, Ruth; Paolicchi, Juliann M.; Parent, Jack; Park, Kristen; Poduri, Annapurna (2017)
  • Assessment of genetic variant burden in epilepsy-associated brain lesions
    Niestroj, Lisa-Marie; May, Patrick; Artomov, Mykyta; Kobow, Katja; Coras, Roland; Perez-Palma, Eduardo; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Leu, Costin; Palotie, Aarno; Daly, Mark J.; Klein, Karl Martin; Beschorner, Rudi; Weber, Yvonne G.; Bluemcke, Ingmar; Lal, Dennis (2019)
  • Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
    Gardella, Elena; Becker, Felicitas; Moller, Rikke S.; Schubert, Julian; Lemke, Johannes R.; Larsen, Line H. G.; Eiberg, Hans; Nothnagel, Michael; Thiele, Holger; Altmueller, Janine; Syrbe, Steffen; Merkenschlager, Andreas; Bast, Thomas; Steinhoff, Bernhard; Nuernberg, Peter; Mang, Yuan; Moller, Louise Bakke; Gellert, Pia; Heron, Sarah E.; Dibbens, Leanne M.; Weckhuysen, Sarah; Dahl, Hans Atli; Biskup, Saskia; Tommerup, Niels; Hjalgrim, Helle; Lerche, Holger; Beniczky, Sandor; Weber, Yvonne G. (2016)
  • Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
    Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee (2021)
  • Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
    Lal, Dennis; Ruppert, Ann-Kathrin; Trucks, Holger; Schulz, Herbert; de Kovel, Carolien G.; Trenite, Dorothee Kasteleijn-Nolst; Sonsma, Anja C. M.; Koeleman, Bobby P.; Lindhout, Dick; Weber, Yvonne G.; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Surges, Rainer; Elger, Christian E.; Gaus, Verena; Schmitz, Bettina; Helbig, Ingo; Muhle, Hiltrud; Stephani, Ulrich; Klein, Karl M.; Rosenow, Felix; Neubauer, Bernd A.; Reinthaler, Eva M.; Zimprich, Fritz; Feucht, Martha; Moller, Rikke S.; Hjalgrim, Helle; De Jonghe, Peter; Suls, Arvid; Lieb, Wolfgang; Franke, Andre; Strauch, Konstantin; Gieger, Christian; Schurmann, Claudia; Schminke, Ulf; Nuernberg, Peter; Sander, Thomas (2015)
  • Characteristics and healthcare situation of adult patients with tuberous sclerosis complex in German epilepsy centers
    Hamer, Hajo M.; Pfaefflin, Margarete; Baier, Hartmut; Boesebeck, Frank; Franz, Melanie; Holtkamp, Martin; Kurlemann, Gerhard; May, TheodorW.; Mayer, Thomas; Metzner, Mirjam; Steinhoff, Bernhard J.; Stodieck, Stefan; Straub, Hans-Beatus; Weber, Yvonne G.; Brandt, Christian (2018)
  • Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
    Knaus, Alexej; Pantel, Jean Tori; Pendziwiat, Manuela; Hajjir, Nurulhuda; Zhao, Max; Hsieh, Tzung-Chien; Schubach, Max; Gurovich, Yaron; Fleischer, Nicole; Jaeger, Marten; Koehler, Sebastian; Muhle, Hiltrud; Korff, Christian; Moller, Rikke S.; Bayat, Allan; Calvas, Patrick; Chassaing, Nicolas; Warren, Hannah; Skinner, Steven; Louie, Raymond; Evers, Christina; Bohn, Marc; Christen, Hans-Juergen; van den Born, Myrthe; Obersztyn, Ewa; Charzewska, Agnieszka; Endziniene, Milda; Kortuem, Fanny; Brown, Natasha; Robinson, Peter N.; Schelhaas, Helenius J.; Weber, Yvonne; Helbig, Ingo; Mundlos, Stefan; Horn, Denise; Krawitz, Peter M. (2018)
  • Clinical spectrum of STX1B-related epileptic disorders
    Wolking, Stefan; May, Patrick; Mei, Davide; Moller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stohr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.; Oates, Stephanie; Hughes, Elaine; Goyal, Sushma; Brown, Kathleen; Saenz, Margarita Sifuentes; Dorn, Thomas; Muhle, Hiltrud; Pagnamenta, Alistair T.; Vavoulis, Dimitris V.; Knight, Samantha J. L.; Taylor, Jenny C.; Canevini, Maria Paola; Darra, Francesca; Gavrilova, Ralitza H.; Powis, Zoe; Tang, Shan; Marquetand, Justus; Armstrong, Martin; McHale, Duncan; Klee, Eric W.; Kluger, Gerhard J.; Lowenstein, Daniel H.; Weckhuysen, Sarah; Pal, Deb K.; Helbig, Ingo; Guerrini, Renzo; Thomas, Rhys H.; Rees, Mark I.; Lesca, Gaetan; Sisodiya, Sanjay M.; Weber, Yvonne G.; Lal, Dennis; Marini, Carla; Lerche, Holger; Schubert, Julian (2019)
  • Current practice in diagnostic genetic testing of the epilepsies
    Krey, Ilona; Platzer, Konrad; Esterhuizen, Alina; Berkovic, Samuel F.; Helbig, Ingo; Hildebrand, Michael S.; Lerche, Holger; Lowenstein, Daniel; Moller, Rikke S.; Poduri, Annapurna; Sadleir, Lynette; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Wilmshurst, Jo M.; Weber, Yvonne; Lemke, Johannes R. (2022)
  • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
    Syrbe, Steffen; Hedrich, Ulrike B. S.; Riesch, Erik; Djemie, Tania; Mueller, Stephan; Moller, Rikke S.; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S.; Arslan, Mutluay; Serratosa, Jose M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Loeffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Kraemer, Guenter; Schoels, Ludger; Mullis, Primus E.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Sterbova, Katalin; Craiu, Dana C.; Hoffman-Zacharska, Dorota; Korff, Christian M.; Weber, Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard, Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Zuechner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe, Peter; Helbig, Ingo; Biskup, Saskia; Wolff, Markus; Maljevic, Snezana; Schule, Rebecca; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke, Johannes R. (2015)
  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
    Suls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, Tania; Afrikanova, Tatiana; Gormley, Padhraig; von Spiczak, Sarah; Kluger, Gerhard; Iliescu, Catrinel M.; Talvik, Tiina; Talvik, Inga; Meral, Cihan; Caglayan, Hande S.; Giraldez, Beatriz G.; Serratosa, Jose; Lemke, Johannes R.; Hoffman-Zacharska, Dorota; Szczepanik, Elzbieta; Barisic, Nina; Komarek, Vladimir; Hjalgrim, Helle; Moller, Rikke S.; Linnankivi, Tarja; Dimova, Petia; Striano, Pasquale; Zara, Federico; Marini, Carla; Guerrini, Renzo; Depienne, Christel; Baulac, Stephanie; Kuhlenbaeumer, Gregor; Crawford, Alexander D.; Lehesjoki, Anna-Elina; de Witte, Peter A. M.; Palotie, Aarno; Lerche, Holger; Esguerra, Camila V.; De Jonghe, Peter; Helbig, Ingo (2013)
  • De novo variants in neurodevelopmental disorders with epilepsy
    Heyne, Henrike O.; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Guerrini, Renzo; Helbig, Katherine L.; Koeleman, Bobby P. C.; Kosmicki, Jack A.; Linnankivi, Tarja; May, Patrick; Muhle, Hiltrud; Moller, Rikke S.; Neubauer, Bernd A.; Palotie, Aarno; Pendziwiat, Manuela; Striano, Pasquale; Tang, Sha; Wu, Sitao; Poduri, Annapurna; Weber, Yvonne G.; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Daly, Mark J.; Helbig, Ingo; Lal, Dennis; Lemke, Johannes R. (2018)
  • Defining the phenotypic spectrum of SLC6A1 mutations
    Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Therese; Chelly, Jamel; Piton, Amelie; Merritt, J. Lawrence, II; Rodan, Lance H.; Tan, Wen-Hann; Bird, Lynne M.; Nespeca, Mark; Gleeson, Joseph G.; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S.; Schelhaas, Helenius J.; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G.; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E.; Pisani, Laura; Myers, Candace T.; Tang, Sha; Tang, Shan; Pal, Deb K.; Millichap, John J.; Carvill, Gemma L.; Helbig, Kathrine L.; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C.; Moller, Rikke S. (2018)
  • Delirium Screening in Aphasic Patients With the Intensive Care Delirium Screening Checklist (ICDSC) : A Prospective Cohort Study
    Bosselmann, Christian; Zurloh, Jan; Stefanou, Maria-Ioanna; Stadler, Vera; Weber, Yvonne; Lerche, Holger; Poli, Sven; Ziemann, Ulf; Mengel, Annerose (2019)
  • DEPDC5 Mutations in Genetic Focal Epilepsies of Childhood
    Lal, Dennis; Reinthaler, Eva M.; Schubert, Julian; Muhle, Hiltrud; Riesch, Erik; Kluger, Gerhard; Jabbari, Kamel; Kawalia, Amit; Baeumel, Christine; Holthausen, Hans; Hahn, Andreas; Feucht, Martha; Neophytou, Birgit; Haberlandt, Edda; Becker, Felicitas; Altmueller, Janine; Thiele, Holger; Lemke, Johannes R.; Lerche, Holger; Nuernberg, Peter; Sander, Thomas; Weber, Yvonne; Zimprich, Fritz; Neubauer, Bernd A. (2014)
  • Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy
    Scherer, Maximillian; Milosevic, Luka; Guggenberger, Robert; Maus, Volker; Naros, Georgios; Grimm, Florian; Bucurenciu, Iancu; Steinhoff, Bernhard J.; Weber, Yvonne G.; Lerche, Holger; Weiss, Daniel; Rona, Sabine; Gharabaghi, Alireza (2020)
  • Development of a rapid functional assay that predicts GLUT1 disease severity
    Zaman, Sasha M.; Mullen, Saul A.; Petrovski, Slave; Maljevic, Snezana; Gazina, Elena, V; Phillips, A. Marie; Jones, Gabriel Davis; Hildebrand, Michael S.; Damiano, John; Auvin, Stephane; Lerche, Holger; Weber, Yvonne G.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Reid, Christopher A.; Petrou, Steven (2018)