檢索結果 - Bernd A. Neubauer

Refine Results
  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 由 Klaus Gräf, Thomas Kohl, Bernd A. Neubauer, F. L. Dey, Dirk Faas, F. Wanis, M. H. T. Reinges, Eberhard Uhl, Michael Kolodziej

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 Dennis Lal, Bernd A. Neubauer, Mohammad R. Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy 由 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

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Clinical and genetic spectrum of SCN2A-associated episodic ataxia

    Clinical and genetic spectrum of SCN2A-associated episodic ataxia 由 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

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2023
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” 由 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

    出版 2016
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  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 由 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

    出版 2017
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy 由 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

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  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 由 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

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: