Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

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Auflistung Universitätsbibliographie nach Autor "Weber, Yvonne G."

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  • GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
    Striano, P.; Weber, Y. G.; Toliat, M. R.; Schubert, J.; Leu, C.; Chaimana, R.; Baulac, S.; Guerrero, R.; LeGuern, E.; Lehesjoki, A. -E.; Polvi, A.; Robbiano, A.; Serratosa, J. M.; Guerrini, R.; Nuernberg, P.; Sander, T.; Zara, F.; Lerche, H.; Marini, C. (2012)
  • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
    O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Victor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raul; Heron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoe; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Riess, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; van der Linden, Helio, Jr.; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel (2019)
  • Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
    Blumcke, I.; Spreafico, R.; Haaker, G.; Coras, R.; Kobow, K.; Bien, C. G.; Pfaefflin, M.; Elger, C.; Widman, G.; Schramm, J.; Becker, A.; Braun, K. P.; Leijten, F.; Baayen, J. C.; Aronica, E.; Chassoux, F.; Hamer, H.; Stefan, H.; Roessler, K.; Thom, M.; Walker, M. C.; Sisodiya, S. M.; Duncan, J. S.; McEvoy, A. W.; Pieper, T.; Holthausen, H.; Kudernatsch, M.; Meencke, H. J.; Kahane, P.; Schulze-Bonhage, A.; Zentner, J.; Heiland, D. H.; Urbach, H.; Steinhoff, B. J.; Bast, T.; Tassi, L.; Lo Russo, G.; Ozkara, C.; Oz, B.; Krsek, P.; Vogelgesang, S.; Runge, U.; Lerche, H.; Weber, Y.; Honavar, M.; Pimentel, J.; Arzimanoglou, A.; Ulate-Campos, A.; Noachtar, S.; Hartl, E.; Schijns, O.; Guerrini, R.; Barba, C.; Jacques, T. S.; Cross, J. H.; Feucht, M.; Muehlebner, A.; Grunwald, T.; Trinka, E.; Winkler, P. A.; Gil-Nagel, A.; Delgado, R. Toledano; Mayer, T.; Lutz, M.; Zountsas, B.; Garganis, K.; Rosenow, F.; Hermsen, A.; von Oertzen, T. J.; Diepgen, T. L.; Avanzini, G. (2017)
  • Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
    Kudin, Alexei P.; Baron, Gregor; Zsurka, Gabor; Hampel, Kevin G.; Elger, Christian E.; Grote, Alexander; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Nuernberg, Peter; Schulz, Herbert; Ruppert, Ann-Kathrin; Sander, Thomas; Cheng, Qing; Arner, Elias S. J.; Schomburg, Lutz; Seeher, Sandra; Fradejas-Villar, Noelia; Schweizer, Ulrich; Kunz, Wolfram S. (2017)
  • Intravenous lacosamide in clinical practice-results from an independent registry
    Lang, Nicolas; Lange, Max; Schmitt, Friedhelm C.; Boes, Monika; Weber, Yvonne; Evers, Stefan; Burghaus, Lothar; Kellinghaus, Christoph; Schubert-Bast, Susanne; Boesel, Julian; Lammers, Thorsten; Sabolek, Michael; van Baalen, Andreas; Dziewas, Rainer; Kraft, Andrea; Ruf, Susanne; Stephani, Ulrich (2016)
  • Investigation of GRIN2A in common epilepsy phenotypes
    Lal, Dennis; Steinbruecker, Sandra; Schubert, Julian; Sander, Thomas; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Thiele, Holger; Krause, Roland; Lehesjoki, Anna-Elina; Nuernberg, Peter; Palotie, Aarno; Neubauer, Bernd A.; Muhle, Hiltrud; Stephani, Ulrich; Helbig, Ingo; Becker, Albert J.; Schoch, Susanne; Hansen, Joerg; Dorn, Thomas; Hohl, Christin; Luescher, Nicole; von Spiczak, Sarah; Lemke, Johannes R. (2015)
  • Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures
    Slavotinek, Anne; van Hagen, Johanna M.; Kalsner, Louisa; Pai, Shashidhar; Davis-Keppen, Laura; Ohden, Lisa; Weber, Yvonne G.; Macke, Erica L.; Klee, Eric W.; Morava, Eva; Gunderson, Lauren; Person, Richard; Liu, Shuxi; Weiss, Marjan (2020)
  • KCNC2 variants of uncertain significance are also associated to various forms of epilepsy
    Seiffert, Simone; Pendziwiat, Manuela; Hedrich, Ulrike B. S.; Helbig, Ingo; Weber, Yvonne; Schwarz, Niklas (2023)
  • 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)
  • Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome
    Hanci, Idil; Kamm, Christoph; Scholten, Marlieke; Roncoroni, Lorenzo P.; Weber, Yvonne; Kruger, Rejko; Plewnia, Christian; Gharabaghi, Alireza; Weiss, Daniel (2018)
  • Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
    Krueger, Johanna; Schubert, Julian; Kegele, Josua; Labalme, Audrey; Mao, Miaomiao; Heighway, Jacqueline; Seebohm, Guiscard; Yan, Pu; Koko, Mahmoud; Aslan-Kara, Kezban; Caglayan, Hande; Steinhoff, Bernhard J.; Weber, Yvonne G.; Keo-Kosal, Pascale; Berkovic, Samuel F.; Hildebrand, Michael S.; Petrou, Steven; Krause, Roland; May, Patrick; Lesca, Gaetan; Maljevic, Snezana; Lerche, Holger (2022)
  • Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
    Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Bosselmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne (2022)
  • Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy
    Zsurka, Gabor; Becker, Felicitas; Heinen, Markus; Gdynia, Hans-Juergen; Lerche, Holger; Kunz, Wolfram S.; Weber, Yvonne G. (2013)
  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
    Lemke, Johannes R.; Lal, Dennis; Reinthaler, Eva M.; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jaehn, Johanna A.; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Moller, Rikke S.; Hjalgrim, Helle; Addis, Laura; Tang, Shan; Hughes, Elaine; Pal, Deb K.; Veri, Kadi; Vaher, Ulvi; Talvik, Tiina; Dimova, Petia; Lopez, Rosa Guerrero; Serratosa, Jose M.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Ruf, Susanne; Wolff, Markus; Buerki, Sarah; Wohlrab, Gabriele; Kroell, Judith; Datta, Alexandre N.; Fiedler, Barbara; Kurlemann, Gerhard; Kluger, Gerhard; Hahn, Andreas; Haberlandt, D. Edda; Kutzer, Christina; Sperner, Juergen; Becker, Felicitas; Weber, Yvonne G.; Feucht, Martha; Steinboeck, Hannelore; Neophythou, Birgit; Ronen, Gabriel M.; Gruber-Sedlmayr, Ursula; Geldner, Julia; Harvey, Robert J.; Hoffmann, Per; Herms, Stefan; Altmueller, Janine; Toliat, Mohammad R.; Thiele, Holger; Nuernberg, Peter; Wilhelm, Christian; Stephani, Ulrich; Helbig, Ingo; Lerche, Holger; Zimprich, Fritz; Neubauer, Bernd A.; Biskup, Saskia; von Spiczak, Sarah (2013)
  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
    Schubert, Julian; Siekierska, Aleksandra; Langlois, Melanie; May, Patrick; Huneau, Clement; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R.; de Kovel, Carolien G. F.; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R.; Sander, Thomas; Rueschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskes, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H.; Baulac, Stephanie; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C.; Glusman, Gustavo; Hood, Leroy; Galas, David J.; Martin, Benoit; de Witte, Peter A. M.; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nuernberg, Peter; Crawford, Alexander D.; Esguerra, Camila V.; Weber, Yvonne G.; Lerche, Holger (2014)
  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
    Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M.; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A.; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; Krijtova, Hana; Leffner, Melanie; Lerche, Holger; Lesca, Gaetan; Lewis-Smith, David; Marini, Carla; Marjanovic, Dragan; Mazzola, Laure; Ruggiero, Sarah McKeown; Mochel, Fanny; Ramond, Francis; Reif, Philipp S.; Richard-Mornas, Aurelie; Rosenow, Felix; Schropp, Christian; Thomas, Rhys H.; Vignoli, Aglaia; Weber, Yvonne; Palmer, Elizabeth; Helbig, Ingo; Scheffer, Ingrid E.; Striano, Pasquale; Moller, Rikke S.; Gardella, Elena; Weckhuysen, Sarah (2022)
  • Neues aus der Epileptologie
    Dihne, M.; Schmidt-Wilcke, T.; Focke, N. Kurt; Weber, Y.; Lerche, H. (2012)
  • Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability
    Liu, Yuanyuan; Schubert, Julian; Sonnenberg, Lukas; Helbig, Katherine L.; Hoei-Hansen, Christina E.; Koko, Mahmoud; Rannap, Maert; Lauxmann, Stephan; Huq, Mahbubul; Schneider, Michael C.; Johannesen, Katrine M.; Kurlemann, Gerhard; Gardella, Elena; Becker, Felicitas; Weber, Yvonne G.; Benda, Jan; Moller, Rikke S.; Lerche, Holger (2019)
  • No evidence for a BRD2 promoter hypermethylation inblood leukocytes of Europeans with juvenile myoclonic epilepsy
    Schulz, Herbert; Ruppert, Ann-Kathrin; Zara, Federico; Madia, Francesca; Iacomino, Michele; Vari, Maria S.; Balagura, Ganna; Minetti, Carlo; Striano, Pasquale; Marini, Carla; Guerrini, Renzo; Weber, Yvonne G.; Becker, Felicitas; Lerche, Holger; Kapser, Claudia; Schankin, Christoph J.; Kunz, Wolfram S.; Moller, Rikke S.; Oliver, Karen L.; Bellows, Susannah T.; Mullen, Saul A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Caglayan, Hande; Ozbek, Ugur; Hoffmann, Per; Schramm, Sara; Tsortouktzidis, Despina; Becker, Albert J.; Sander, Thomas; Bianchi, Amedeo (2019)
  • Paroxysmal exercise-induced dyskinesia of the hands
    Clark, Camilla N.; Weber, Yvonne Gerda; Lerche, Holger; Warner, Thomas T. (2012)