תוצאות חיפוש - Bernd A. Neubauer

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  1. 1
    Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year

    Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year מאת Klaus Gräf, Thomas Kohl, Bernd A. Neubauer, F. L. Dey, Dirk Faas, F. Wanis, M. H. T. Reinges, Eberhard Uhl, Michael Kolodziej

    יצא לאור 2015
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    Artigo
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  2. 2
    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing מאת Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

    יצא לאור 2016
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    Artigo
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  3. 3
    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy מאת Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

    יצא לאור 2013
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    Artigo
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  4. 4
    Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in<scp>G</scp>ermany

    Costs of epilepsy and cost‐driving factors in children, adolescents, and their caregivers in<scp>G</scp>ermany מאת Janna Riechmann, Adam Strzelczyk, Jens Peter Reese, Rainer Boor, Ulrich Stephani, Cornelia Langner, Bernd A. Neubauer, Bettina Oberman, Heike Philippi, Michael Rochel, Jürgen Seeger, Peter Seipelt, Wolfgang H. Oertel, Richard Dodel, Felix Rosenow, Hajo M. Hamer

    יצא לאור 2015
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    Artigo
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  5. 5
    Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany

    Quality of life and correlating factors in children, adolescents with epilepsy, and their caregivers: A cross-sectional multicenter study from Germany מאת Janna Riechmann, Laurent M. Willems, Rainer Boor, Matthias Kieslich, Susanne Knake, Cornelia Langner, Bernd A. Neubauer, Bettina Oberman, Heike Philippi, Jens Peter Reese, Michael Rochel, Susanne Schubert‐Bast, Jürgen Seeger, Peter Seipelt, Ulrich Stephani, Felix Rosenow, Hajo M. Hamer, Adam Strzelczyk

    יצא לאור 2019
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    Artigo
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  6. 6
    Analysis of <i>ELP4</i>,<i> SRPX2</i>, and interacting genes in typical and atypical rolandic epilepsy

    Analysis of <i>ELP4</i>,<i> SRPX2</i>, and interacting genes in typical and atypical rolandic epilepsy מאת Eva M. Reinthaler, Dennis Lal, Wiktor Jurkowski, Martha Feucht, Hannelore Steinböck, U Gruber‐Sedlmayr, Gabriel M. Ronen, Julia Geldner, Edda Haberlandt, Birgit Neophytou, Andreas Hahn, Janine Altmüller, Holger Thiele, Mohammad R. Toliat, Holger Lerche, Peter Nürnberg, Thomas Sander, Bernd A. Neubauer, Fritz Zimprich

    יצא לאור 2014
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    Artigo
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  7. 7
    Extending the phenotypic spectrum of <i><scp>RBFOX</scp>1</i> deletions: Sporadic focal epilepsy

    Extending the phenotypic spectrum of <i><scp>RBFOX</scp>1</i> deletions: Sporadic focal epilepsy מאת 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

    יצא לאור 2015
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    Artigo
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  8. 8
    Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians

    Predictors of and attitudes toward counseling about SUDEP and other epilepsy risk factors among Austrian, German, and Swiss neurologists and neuropediatricians מאת Adam Strzelczyk, Gerda Zschebek, Sebastian Bauer, Christoph Baumgartner, Martin Grond, Anke Hermsen, Matthias Kieslich, Günter Krämer, Gerhard Kurlemann, Theodor W. May, Patrick May, Bernd A. Neubauer, Margarete Pfäfflin, Barbara Plecko, Philippe Ryvlin, Susanne Schubert‐Bast, Hermann Stefan, Eugen Trinka, Susanne Knake, Carola Seifart, Felix Rosenow

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Clinical and genetic spectrum of SCN2A-associated episodic ataxia מאת Niklas Schwarz, Thomas Bast, Eija Gaily, G. Golla, Kathleen M. Gorman, Lyn R. Griffiths, Andreas Hahn, Juliette Hukin, Marissa King, Christian Korff, María J. Miranda, Rikke S. Møller, Bernd A. Neubauer, Robert A. Smith, Thomas Smol, Pasquale Striano, B. Stroud, María Vaccarezza, Gerhard Kluger, Holger Lerche, Walid Fazeli

    יצא לאור 2019
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    Artigo
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  10. 10
    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

    CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly מאת Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq, Muhammad Jameel, Tahir Naeem Khan, Ambrin Fatima, Naveed Altaf Malik, Ilyas Ahmad, Janine Altmüller, Peter Frommolt, Hölger Thiele, Wolfgang Höhne, Gökhan Yigit, Bernd Wollnik, Bernd A. Neubauer, Peter Nürnberg, Angelika A. Noegel

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy

    Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy מאת 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

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

    Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany מאת Adam Strzelczyk, Malin Kalski, Thomas Bast, Adelheid Wiemer‐Kruel, U Bettendorf, Lara Kay, Matthias Kieslich, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Arne Herting, Sarah von Spiczak, Regina Trollmann, Markus Wolff, John Irwin, Joe Carroll, Daniel Macdonald, Clive Pritchard, Karl Martin Klein, Felix Rosenow, Susanne Schubert‐Bast

    יצא לאור 2019
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    Artigo
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  13. 13
    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 מאת 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

    יצא לאור 2023
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    Artigo
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  14. 14
    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome

    The role of <i> <scp>SLC</scp> 2A1 </i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp> 1 deficiency syndrome מאת Jan Larsen, Katrine M. Johannesen, Jakob Ek, Shan Tang, Carla Marini, Susanne Blichfeldt, Maria Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu, Bernd A. Neubauer, Peter Uldall, Pasquale Striano, Federico Zara, Rebecca Kleiss, Michael A. Simpson, Hiltrud Muhle, Marina Nikanorova, Birgit Jepsen, Niels Tommerup, Ulrich Stephani, Renzo Guerrini, Morten Dunø, Helle Hjalgrim, Deb K. Pal, Ingo Helbig, Rikke S. Møller

    יצא לאור 2015
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    Artigo
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  15. 15
    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

    A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany מאת Adam Strzelczyk, Susanne Schubert‐Bast, Thomas Bast, U Bettendorf, Barbara Fiedler, Hajo M. Hamer, Arne Herting, Malin Kalski, Lara Kay, Matthias Kieslich, Karl Martin Klein, Gerhard Kluger, Gerhard Kurlemann, Patrick May, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Ulrich Stephani, Regina Trollmann, Adelheid Wiemer‐Kruel, Markus Wolff, John Irwin, Joe Carroll, Clive Pritchard, Felix Rosenow

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  16. 16
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” מאת Deb K. Pal, Colin D. Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Caraballo, Anne de Saint Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi, Ingo Helbig, Andreas A. Ioannides, Katsuhiro Kobayashi, Dennis Lal, Gaëtan Lesca, Hiltrud Muhle, Bernd A. Neubauer, Tiziana Pisano, Gabrielle Rudolf, Caroline Seegmüller, Takashi Shibata, Anna Smith, Pasquale Striano, Lisa J. Strug, Pierre Szepetowski, Thalia Valeta, Harumi Yoshinaga, Michalis Koutroumanidis

    יצא לאור 2016
    קבל טקסט מלא
    Revisão
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  17. 17
    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 מאת Noriko Miyake, Nicole I. Wolf, Ferdy Kurniawan Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura‐Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah A. Sival, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver

    יצא לאור 2017
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    Artigo
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  18. 18
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy מאת Henrike Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L. Helbig, Bobby P.C. Koeleman, Jack A. Kosmicki, Tarja Linnankivi, Patrick May, Hiltrud Muhle, Rikke S. Møller, Bernd A. Neubauer, Aarno Palotie, Manuela Pendziwiat, Pasquale Striano, Sha Tang, Sitao Wu, Annapurna Poduri, Yvonne G. Weber, Sarah Weckhuysen, Sanjay M. Sisodiya, Mark J. Daly, Ingo Helbig, Dennis Lal, Johannes R. Lemke

    יצא לאור 2018
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    Artigo
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  19. 19
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders מאת Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P.C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    יצא לאור 2020
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    Artigo
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  20. 20
    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies מאת Dennis Lal, Ann‐Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. F. de Kovel, Dorothee Kasteleijn‐Nolst Trenité, Anja C. M. Sonsma, Bobby P.C. Koeleman, Dick Lindhout, Yvonne G. Weber, Holger Lerche, Claudia Kapser, Christoph J. Schankin, Wolfram S. Kunz, Rainer Surges, Christian E. Elger, Verena Gaus, Bettina Schmitz, Katherine L. Helbig, Hiltrud Muhle, Ulrich Stephani, Karl Martin Klein, Felix Rosenow, Bernd A. Neubauer, Eva M. Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S. Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, André Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, Thomas Sander

    יצא לאור 2015
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    Artigo
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