Suchergebnisse - Yvonne G. Weber
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Sequence Characteristics, Subcellular Localization, and Substrate Specificity of DYRK-related Kinases, a Novel Family of Dual Specificity Protein Kinases von Walter Becker, Yvonne G. Weber, Kristiane Wetzel, Klaus EIRMBTER, Francisco J. Tejedor, Hans‐Georg Joost
Veröffentlicht 1998Artigo -
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Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients von Felix Bernhard, Jennifer Sartor, Kristina Bettecken, Markus A. Hobert, Carina Arnold, Yvonne G. Weber, Sven Poli, Nils G. Margraf, Christian Schlenstedt, Clint Hansen, Walter Maetzler
Veröffentlicht 2018Artigo -
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Cenobamate: real-world data from a retrospective multicenter study von Stephan Lauxmann, David Heuer, Jan Heckelmann, Florian P. Fischer, Melanie Schreiber, Elisabeth Schriewer, Guido Widman, Yvonne G. Weber, Holger Lerche, Michael Alber, Sigrid Schuh‐Hofer, Stefan Wolking
Veröffentlicht 2024Artigo -
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Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease von Niklas Schwarz, Betül Seher Uysal, Marc Welzer, Jacqueline C Bahr, Nikolas Layer, Heidi Löffler, Kornelijus Stanaitis, Harshad PA, Yvonne G. Weber, Ulrike B. S. Hedrich, Jürgen Honegger, Angelos Skodras, Albert J. Becker, Thomas V. Wuttke, Henner Koch
Veröffentlicht 2019Artigo -
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Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy von Henrike Heyne, Mykyta Artomov, Florian Battke, Claudia Bianchini, Douglas R. Smith, Nora Liebmann, Vasisht Tadigotla, Christine M. Stanley, Dennis Lal, Heidi L. Rehm, Holger Lerche, Mark J. Daly, Ingo Helbig, Saskia Biskup, Yvonne G. Weber, Johannes R. Lemke
Veröffentlicht 2019Artigo -
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Current practice in diagnostic genetic testing of the epilepsies von Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel H. Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette G. Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne G. Weber, Johannes R. Lemke
Veröffentlicht 2022Artigo -
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Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study von Valentina De Giorgis, Kailash P. Bhatia, Odile Boespflug‐Tanguy, Domitille Gras, Adela Della Marina, Archana Desurkar, Manuel Toledo, Ian Miller, Michael Rotstein, Susanne A. Schneider, Daniel Tarquinio, Yvonne G. Weber, Melanie Brandabur, J. Mayhew, Tony Koutsoukos, Darryl C. De Vivo
Veröffentlicht 2024Artigo -
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Neuronal mechanisms of mutations in <i>SCN8A</i> causing epilepsy or intellectual disability von Yuanyuan Liu, Julian Schubert, Lukas Sonnenberg, Katherine L. Helbig, Christina Engel Hoei‐Hansen, Mahmoud Koko, Maert Rannap, Stephan Lauxmann, Mahbubul Huq, Michael C. Schneider, Katrine M. Johannesen, Gerhard Kurlemann, Elena Gardella, Felicitas Becker, Yvonne G. Weber, Jan Benda, Rikke S. Møller, Holger Lerche
Veröffentlicht 2018Artigo -
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Extending the phenotypic spectrum of <i><scp>RBFOX</scp>1</i> deletions: Sporadic focal epilepsy von Dennis Lal, Katharina Pernhorst, Karl Martin Klein, Philipp S. Reif, Rossana Tozzi, Mohammad R. Toliat, Georg Winterer, Bernd A. Neubauer, Peter Nürnberg, Felix Rosenow, Felicitas Becker, Holger Lerche, Wolfram S. Kunz, Mitja Kurki, Per Hoffmann, Albert J. Becker, Emilio Perucca, Federico Zara, Thomas Sander, Yvonne G. Weber
Veröffentlicht 2015Artigo -
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Postictal Psychosis in Epilepsy: A Clinicogenetic Study von Vera Braatz, Helena Martins Custodio, Costin Leu, Luigi Agró, Baihan Wang, Stella Calafato, Genevieve Rayner, Michael G. Doyle, Christian Hengsbach, Francesca Bisulli, Yvonne G. Weber, Antonio Gambardella, Norman Delanty, Gianpiero L. Cavalleri, Jacqueline Foong, Ingrid E. Scheffer, Samuel F. Berkovic, Elvira Bramon, Simona Balestrini, Sanjay M. Sisodiya
Veröffentlicht 2021Artigo -
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Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy von Dennis Lal, Holger Trucks, Rikke S. Møller, Helle Hjalgrim, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Frank Visscher, Yvonne G. Weber, Holger Lerche, Felicitas Becker, Christoph J. Schankin, Bernd A. Neubauer, Rainer Surges, Wolfram S. Kunz, Fritz Zimprich, André Franke, Thomas Illig, Janina S. Ried, Costin Leu, Peter Nürnberg, Thomas Sander
Veröffentlicht 2013Artigo -
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The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlle... von Felix Rosenow, Carmen Schade‐Brittinger, Nicole Burchardi, Sebastian Bauer, Karl Martin Klein, Yvonne G. Weber, Holger Lerche, Stefan Evers, Stjepana Kovac, Susanne Hallmeyer‐Elgner, G. Winkler, Joachim Springub, Mathias Niedhammer, Erhard Roth, Ilonka Eisensehr, Jörg Berrouschot, Stephan Arnold, Michael Schröder, Anja Beige, Wolfgang H. Oertel, Adam Strzelczyk, Anja Haag, Philipp S. Reif, Hajo M. Hamer
Veröffentlicht 2012Artigo -
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Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, non-interventional study protocol von Sotirios Kalousios, Jürgen Hesser, Matthias Dümpelmann, Christoph Baumgartner, Hajo M. Hamer, Martin Hirsch, Lukas L. Imbach, Elisabeth Kaufmann, Josua Kegele, Susanne Knake, Georg Leonhardt, Patrick May, Ann Mertens, Ekaterina Pataraia, Felix von Podewils, Carlos Martínez Quesada, Bernhard J. Steinhoff, Rainer Surges, Berthold Voges, Jan Wagner, Yvonne G. Weber, Tim Wehner, Yaroslav Winter, Andreas Schulze‐Bonhage
Veröffentlicht 2025Artigo -
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A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation von Paul Boon, Kristl Vonck, Kenou van Rijckevorsel, Riëm El Tahry, Christian E. Elger, Nandini Mullatti, Andreas Schulze‐Bonhage, Louis Wagner, Beate Diehl, Hajo M. Hamer, Markus Reuber, Hrisimir Kostov, Benjamin Legros, Soheyl Noachtar, Yvonne G. Weber, Volker A. Coenen, Herbert Rooijakkers, Olaf Schijns, Richard Selway, Dirk Van Roost, Katherine S. Eggleston, Wim Van Grunderbeek, Amara K. Jayewardene, Ryan M. McGuire
Veröffentlicht 2015Artigo -
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Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia von Katia Hardies, Carolien G. F. de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva H. Brilstra, Felicitas Becker, Nina Barišić, Dana Craiu, Kees P. J. Braun, Dennis Lal, Hölger Thiele, Julian Schubert, Yvonne G. Weber, Ruben van ‘t Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P. C. Koeleman
Veröffentlicht 2015Artigo -
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Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies von Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, Philipp S. Reif, Karl Martin Klein, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Susanne Schubert‐Bast, Ingo Borggraefe, Antonietta Coppola, Serena Troisi, Rikke S. Møller, Antonella Riva, Pasquale Striano, Federico Zara, Cheryl Hemingway, Carla Marini, Anna Rosati, Davide Mei, Martino Montomoli, Renzo Guerrini, J. Helen Cross, Sanjay M. Sisodiya
Veröffentlicht 2021Artigo -
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Targeted next generation sequencing as a diagnostic tool in epileptic disorders von Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki, Susi Strozzi, Barbara Goeggel Simonetti, Sebastian Grunt, Maja Steinlin, Michael Alber, Markus Wolff, Thomas Klopstock, Eva Christina Prott, Rüdiger Lorenz, Christiane Spaich, Sabine Rona, Maya Lakshminarasimhan, Judith F. Kroll, Thomas Dorn, Günter Krämer, Matthis Synofzik, Felicitas Becker, Yvonne G. Weber, Holger Lerche, Detlef Böhm, Saskia Biskup
Veröffentlicht 2012Artigo -
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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak von Yvonne G. Weber, Alexander Storch, Thomas V. Wuttke, Knut Brockmann, Judith Kempfle, Snezana Maljevic, Lucia Margari, Christoph Kamm, Susanne A. Schneider, Stephan M. Huber, Arnulf Pekrun, Robert Roebling, Guiscard Seebohm, Saisudha Koka, Camelia Lang, Eduard Kraft, Dragica Blazevic, Alberto Salvo‐Vargas, Michael Fauler, Felix M. Mottaghy, Alexander Münchau, Mark J. Edwards, Anna Presicci, Francesco Margari, Thomas Gasser, Florian Läng, Kailash P. Bhatia, Frank Lehmann‐Horn, Holger Lerche
Veröffentlicht 2008Artigo
Suchwerkzeuge:
Ähnliche Schlagworte
Medicine
Biology
Epilepsy
Gene
Genetics
Psychiatry
Neuroscience
Internal medicine
Phenotype
Psychology
Pathology
Disease
Pediatrics
Encephalopathy
Genome
Intellectual disability
Missense mutation
Mutation
Autism
Computational biology
Copy-number variation
Anesthesia
Bioinformatics
Endocrinology
Epilepsy syndromes
Exome
Exome sequencing
Adverse effect
Generalized epilepsy
Hippocampal sclerosis