Bilaketaren emaitzak - Steffen Syrbe

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  1. 1
    Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

    Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions nork Ibitayo Abigail Ademuwagun, Solomon O. Rotimi, Steffen Syrbe, Yvonne Ukamaka Ajamma, Ezekiel Adebiyi

    Argitaratua 2021
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  2. 2
    L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

    L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants nork Ilona Krey, Sarah von Spiczak, Katrine M. Johannesen, Christiane Hikel, Gerhard Kurlemann, Hiltrud Muhle, Diane Beysen, Tobias Dietel, Rikke S. Møller, Johannes R. Lemke, Steffen Syrbe

    Argitaratua 2022
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  3. 3
    Epilepsy surgery in early infancy: A retrospective, multicenter study

    Epilepsy surgery in early infancy: A retrospective, multicenter study nork Konstantin L. Makridis, Kerstin Alexandra Klotz, Georgia Ramantani, Lena‐Luise Becker, Victoria San Antonio‐Arce, Steffen Syrbe, Kathrin Wagner, Mukesch Shah, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Ingo Borggraefe, Angela M. Kaindl

    Argitaratua 2023
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  4. 4
    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study

    Amitriptyline use in individuals with <i>KCNQ2/3</i> gain‐of‐function variants: A retrospective cohort study nork Matthias De Wachter, Charissa Millevert, Joost Nicolai, Elisabeth A. Cats, Gerhard Kluger, Mathieu Milh, Robin Cloarec, Steffen Syrbe, Katrijn Arts, Katrien Jansen, Magdalena Krygier, Robert Śmigiel, Stéphane Auvin, Kern Olofson, Cathrine E. Gjerulfsen, Berten Ceulemans, Rikke S. Møller, Allan Bayat, Sarah Weckhuysen

    Argitaratua 2025
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  5. 5
    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels nork Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke S. Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J. Campbell, Hao‐Ran Wang, Jen Q. Pan, Mark J. Daly

    Argitaratua 2020
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  6. 6
    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany nork Margarita Maltseva, Susanne Schubert‐Bast, Johann Philipp Zöllner, Thomas Bast, Patrick May, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin Alexandra Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, U Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk

    Argitaratua 2023
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  7. 7
    Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

    Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study nork Afshin Saffari, Ines Brösse, Adelheid Wiemer‐Kruel, Bernd Wilken, Paula Kreuzaler, Andreas Hahn, Matthias K. Bernhard, Cornelis M. van Tilburg, Georg F. Hoffmann, Matthias Gorenflo, Sven Hethey, Olaf Kaiser, Stefan Kölker, Robert Wágner, Olaf Witt, Andreas Merkenschlager, A Möckel, Timo Roser, Jan-Ulrich Schlump, Antje Serfling, Juliane Spiegler, Till Milde, Andreas Ziegler, Steffen Syrbe

    Argitaratua 2019
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  8. 8
    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Gain-of-function variants in <i>GABRD</i> reveal a novel pathway for neurodevelopmental disorders and epilepsy nork Philip K. Ahring, Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer, Barbro Stadheim, H. W. C. DAVIS, Charlotte Peinhardt, Mahmoud Koko, Rohini Coorg, Steffen Syrbe, Astrid Bertsche, Teresa Santiago‐Sim, Tue Diemer, Christina Fenger, Konrad Platzer, Evan E. Eichler, Holger Lerche, Johannes R. Lemke, Mary Chebib, Rikke S. Møller

    Argitaratua 2021
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  9. 9
    Treatment Responsiveness in KCNT1-Related Epilepsy

    Treatment Responsiveness in KCNT1-Related Epilepsy nork Mark P. Fitzgerald, Martina Fiannacca, Douglas M. Smith, Tracy S. Gertler, Boudewijn Gunning, Steffen Syrbe, Nienke E. Verbeek, Hannah Stamberger, Sarah Weckhuysen, Berten Ceulemans, An-Sofie Schoonjans, Massimiliano Rossi, Geneviève Demarquay, Gaëtan Lesca, Kern Olofsson, David A. Koolen, Frauke Hornemann, Stéphanie Baulac, Guido Rubboli, Kelly Q. Minks, Bo Hoon Lee, Ingo Helbig, Dennis Dlugos, Rikke S. Møller, David Bearden

    Argitaratua 2019
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  10. 10
    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

    Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy nork Wenshu XiangWei, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, Subhrajit Bhattacharya, Gaëtan Lesca, Sylvie Nguyen, Katherine L. Helbig, Jean‐Marie Cuisset, Christina Fenger, Dragan Marjanović, Elisabeth Schuler, Ye Wu, Xinhua Bao, Yuehua Zhang, Nina Dirkx, An‐Sofie Schoonjans, Steffen Syrbe, Scott J. Myers, Annapurna Poduri, Elias Aizenman, Stephen F. Traynelis, Johannes R. Lemke, Hongjie Yuan, Yuwu Jiang

    Argitaratua 2019
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  11. 11
    Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients

    Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients nork Sven Jarius, Christian Lechner, Eva Wendel, Matthias Baumann, Markus Breu, Mareike Schimmel, Michael Karenfort, Adela Della Marina, Andreas Merkenschlager, Charlotte Thiels, Astrid Blaschek, Michela Salandin, Steffen Leiz, Frank Leypoldt, Alexander Pschibul, Annette Hackenberg, Andreas Hahn, Steffen Syrbe, Jurgis Strautmanis, Martin Häusler, Peter Krieg, Astrid Eisenkölbl, Johannes Stoffels, Matthias Eckenweiler, Ilya Ayzenberg, Jürgen Haas, Romana Höftberger, Ingo Kleiter, Mirjam Korporal‐Kuhnke, Marius Ringelstein, Klemens Ruprecht, Nadja Siebert, Kathrin Schanda, Orhan Aktaş, Friedemann Paul, Markus Reindl, Brigitte Wildemann, Kevin Rostásy

    Argitaratua 2020
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  12. 12
    Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study

    Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study nork Fabienne Kühne, Lena‐Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe, Christian M. Boßelmann, J. Fahrbach, Christoph Hertzberg, Nina A. Herz, Martin Hirsch, Martin Holtkamp, Christine Janello, Gerhard Kluger, Gerhard Kurlemann, Holger Lerche, Konstantin L. Makridis, Felix von Podewils, Milka Pringsheim, Susanne Schubert‐Bast, Juliane Schulz, Andreas Schulze‐Bonhage, David Steinbart, Bernhard J. Steinhoff, Adam Strzelczyk, Steffen Syrbe, Heike de Vries, C. N. J. Wagner, Johanna Wagner, Bernd Wilken, Christine Prager, Kerstin Alexandra Klotz, Angela M. Kaindl

    Argitaratua 2023
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  13. 13
    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications nork Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

    Argitaratua 2022
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  14. 14
    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy nork Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska‐Abramczuk, Steffen Syrbe, Natalia Gomez‐Ospina, Melanie A. Manning, Anna Kostera‐Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Réka Kovács-Nagy, Mirjana Gušić, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, Tobias B. Haack

    Argitaratua 2018
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  15. 15
    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes nork Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluç Yiş, Carol Saunders, Martin B. Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan M. Goldberg, Eric D. Marsh, Sudha Kilaru Kessler, Christina Bergqvist, Laura K. Conlin, Bryan L. Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R. Lemke, Marie-José van den Boogaardt, Rikke S. Møller, Bobby P.C. Koeleman

    Argitaratua 2017
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  16. 16
    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol

    Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized,... nork Jan H. Driedger, Julian Schröter, Christoph Hertzberg, Bernhard Weschke, Angela M. Kaindl, Thomas Lücke, Charlotte Thiels, Kerstin Alexandra Klotz, Walid Fazeli, Charlotte Thiels, Lucia Wiethoff-Ubrig, Olaf Kaiser, Regina Trollmann, Dilbar Mammadova, Susanne Schubert‐Bast, Alexia Bach, Matthias Eckenweiler, Jan Schönberger, Kyriakos Martakis, Andreas Hahn, Knut Brockmann, Steffi Dreha‐Kulaczewski, Deike Weiss, Jonas Denecke, Hiltrud Muhle, Maria Arélin, Andreas Merkenschlager, Ingo Borggräfe, Timo Roser, Daniel Ebrahimi‐Fakhari, Barbara Fiedler, Jan-Ulrich Schlump, Ilka Köster, Christoph Korenke, Michael Alber, Susanne Ruf, Martha Feucht, Theresa O. Scholl, Steffen Syrbe, Afshin Saffari

    Argitaratua 2025
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  17. 17
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> nork Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    Argitaratua 2017
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  18. 18
    Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy nork Steffen Syrbe, Frederike L. Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L. Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Bürglen, Jonas Denecke, Bénédicte Héron, Henrike Heyne, Georg F. Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, Georg Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E. Verbeek, Rikke S. Møller, Bobby P.C. Koeleman, Naomichi Matsumoto, William B. Dobyns, Domenica Battaglia, Johannes R. Lemke, Kerstin Kutsche, Renzo Guerrini

    Argitaratua 2017
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  19. 19
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy nork Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    Argitaratua 2015
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  20. 20
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies nork Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    Argitaratua 2017
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