खोज परिणाम - Hiltrud Muhle

परिणाम को परिष्कृत करें
  1. 1
    Absence seizures: Individual patterns revealed by EEG‐fMRI

    Absence seizures: Individual patterns revealed by EEG‐fMRI द्वारा Friederike Moeller, Pierre LeVan, Hiltrud Muhle, Ulrich Stephani, François Dubeau, Michael Siniatchkin, Jean Gotman

    प्रकाशित 2010
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    Artigo
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  2. 2
    Simultaneous EEG‐fMRI in drug‐naive children with newly diagnosed absence epilepsy

    Simultaneous EEG‐fMRI in drug‐naive children with newly diagnosed absence epilepsy द्वारा Friederike Moeller, Hartwig R. Siebner, Stephan Wolff, Hiltrud Muhle, Oliver Granert, Olav Jansen, Ulrich Stephani, Michael Siniatchkin

    प्रकाशित 2008
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    Artigo
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  3. 3
    Hemodynamic Responses to Interictal Epileptiform Discharges in Children with Symptomatic Epilepsy

    Hemodynamic Responses to Interictal Epileptiform Discharges in Children with Symptomatic Epilepsy द्वारा Julia Jacobs, Eliane Kobayashi, Rainer Boor, Hiltrud Muhle, Stephan Wolff, Colin Hawco, François Dubeau, Olav Jansen, Ulrich Stephani, Jean Gotman, Michael Siniatchkin

    प्रकाशित 2007
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    Artigo
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  4. 4
    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 द्वारा 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

    प्रकाशित 2022
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    Artigo
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  5. 5
    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

    RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy द्वारा 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

    प्रकाशित 2013
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    Artigo
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  6. 6
    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies द्वारा Heather C. Mefford, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, André Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A. Gurnett, Stefan Schreiber, Alexander G. Bassuk, Michel Guipponi, Ulrich Stephani, Katherine L. Helbig, Evan E. Eichler

    प्रकाशित 2010
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    Artigo
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  7. 7
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity द्वारा Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    प्रकाशित 2010
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    Artigo
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  8. 8
    Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

    Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy द्वारा A Müller, Ingo Helbig, C. Jansen, Thomas Bast, Renzo Guerrini, Johanna Jähn, Hiltrud Muhle, Stéphane Auvin, Georg-Christoph Korenke, Sunny Philip, Reinhard Keimer, Pasquale Striano, Nicole I. Wolf, B Püst, Ch. Thiels, András Fogarasi, Stephan Waltz, Gerhard Kurlemann, Tamara Kovačević-Preradović, Berten Ceulemans, Bernhard Schmitt, Heike Philippi, Daniel Tarquinio, Sarah E. Buerki, Celina von Stülpnagel, Gerhard Kluger

    प्रकाशित 2015
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    Artigo
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  9. 9
    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 द्वारा 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

    प्रकाशित 2015
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    Artigo
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  10. 10
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” द्वारा 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

    प्रकाशित 2016
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    Revisão
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  11. 11
    <i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome

    <i>GABRA1</i> and <i>STXBP1</i> : Novel genetic causes of Dravet syndrome द्वारा Gemma L. Carvill, Sarah Weckhuysen, Jacinta M. McMahon, Corinna Hartmann, Rikke S. Møller, Helle Hjalgrim, Joseph Cook, Eileen Geraghty, Brian J. O’Roak, Steven Petrou, Alison L. Clarke, Deepak Gill, Lynette G. Sadleir, Hiltrud Muhle, Sarah von Spiczak, Marina Nikanorova, Bree Hodgson, Elena V. Gazina, Arvid Suls, Jay Shendure, Leanne M. Dibbens, Peter De Jonghe, Ingo Helbig, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    प्रकाशित 2014
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    Artigo
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  12. 12
    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

    Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood द्वारा F.‐Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W. Friederich, Susan M. White, Alice Basinger, Cansu Küçükköse, Hiltrud Muhle, Johanna Jähn, Oliver Keminer, Katherine L. Helbig, Carolyn Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A. Lovell, Naomichi Matsumoto, Maie Walsh, Hung‐Chun Yu, Deepali N. Shinde, Ulrich Stephani, Johan L.K. Van Hove, Frank Müller, Ingo Helbig

    प्रकाशित 2018
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    Artigo
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  13. 13
    De novo variants in neurodevelopmental disorders with epilepsy

    De novo variants in neurodevelopmental disorders with epilepsy द्वारा 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

    प्रकाशित 2018
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    Artigo
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  14. 14
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants द्वारा Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    प्रकाशित 2018
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    Artigo
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  15. 15
    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

    Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis द्वारा Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung‐Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven A. Skinner, Raymond J. Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endzinienė, Fanny Kortüm, Natasha J. Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne G. Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter Krawitz

    प्रकाशित 2018
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    Artigo
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  16. 16
    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 द्वारा 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

    प्रकाशित 2017
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    Artigo
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  17. 17
    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,... द्वारा 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

    प्रकाशित 2025
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    Artigo
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  18. 18
    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 द्वारा 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

    प्रकाशित 2015
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    Artigo
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  19. 19
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly द्वारा Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara

    प्रकाशित 2014
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    Artigo
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  20. 20
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> द्वारा 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

    प्रकाशित 2017
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    Artigo
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