Хайлтын үр дүнгүүд - Gabrielle Rudolf

Үр дүнг сайжруулах
  1. 1
    From rolandic epilepsy to continuous spike‐and‐waves during sleep and Landau‐Kleffner syndromes: Insights into possible genetic factors

    From rolandic epilepsy to continuous spike‐and‐waves during sleep and Landau‐Kleffner syndromes: Insights into possible genetic factors -н Gabrielle Rudolf, Maria Paola Valenti, Édouard Hirsch, Pierre Szepetowski

    Хэвлэсэн 2009
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    Artigo
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  2. 2
    Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype

    Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype -н Anne‐Katrin Pröbstel, Gabrielle Rudolf, Klaus Dornmair, Nicolas Collongues, Jean‐Baptiste Chanson, Nicholas Sanderson, Raija L.P. Lindberg, Ludwig Kappos, de Sèze, Tobias Derfuß

    Хэвлэсэн 2015
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    Artigo
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  3. 3
    Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

    Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex -н Patrice Roll, Sonja C. Vernes, Nadine Bruneau, Jennifer Cillario, Magali Ponsole-Lenfant, Annick Massacrier, Gabrielle Rudolf, Manal Khalifé, Édouard Hirsch, Simon E. Fisher, Pierre Szepetowski

    Хэвлэсэн 2010
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    Artigo
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  4. 4
    Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

    Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13 -н Dalila Pinto, Birgit Westland, Gerrit‐Jan de Haan, Gabrielle Rudolf, Berta Martins da Silva, Édouard Hirsch, Dick Lindhout, Dorothee Kasteleijn‐Nolst Trenité, Bobby P.C. Koeleman

    Хэвлэсэн 2004
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    Artigo
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  5. 5
    Genetic Compensation in a Human Genomic Disorder

    Genetic Compensation in a Human Genomic Disorder -н Nadège Calmels, Pascale Saugier‐Veber, Françoise Girard‐Lemaire, Gabrielle Rudolf, Bérénice Doray, Éric Guérin, Pierre Kuhn, Mathilde Arrivé, Catherine Gilch, Evelyne Schmitt, Séverine Fehrenbach, Albert Schnebelen, Thierry Frébourg, Elisabeth Flori

    Хэвлэсэн 2009
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    Artigo
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  6. 6
    Mutations of DEPDC5 cause autosomal dominant focal epilepsies

    Mutations of DEPDC5 cause autosomal dominant focal epilepsies -н Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Édouard Hirsch, Eric LeGuern, Stéphanie Baulac

    Хэвлэсэн 2013
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    Artigo
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  7. 7
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders -н Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim

    Хэвлэсэн 2018
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    Artigo
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  8. 8
    Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation

    Early‐Onset Parkinsonism Is a Manifestation of the <scp><i>PPP2R5D</i></scp> p.<scp>E200K</scp> Mutation -н Christine Kim, Thomas Wirth, Cécile Hubsch, Andrea H. Németh, Volkan Okur, Mathieu Anheim, Nathalie Drouot, Christine Tranchant, Gabrielle Rudolf, Jamel Chelly, Katrina Tatton‐Brown, Cornelis Blauwendraat, Jean Paul Vonsattel, Etty Cortés, Roy N. Alcalay, Wendy K. Chung

    Хэвлэсэн 2020
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    Artigo
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  9. 9
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism -н Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    Хэвлэсэн 2012
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    Artigo
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  10. 10
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> -н Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    Хэвлэсэн 2013
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    Artigo
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  11. 11
    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine

    <i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine -н Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, Annick Massacrier, Manal Salmi, Marc Bataillard, Clotilde Boulay, Roberto Caraballo, Natalio Fejerman, Pierre Genton, Édouard Hirsch, Alasdair G. W. Hunter, Gaëtan Lesca, Jacques Motté, Agathe Roubertie, Damien Sanlaville, Sau-Wei Wong, Ying‐Hui Fu, Jacques Rochette, Louis J. Ptác̆ek, Pierre Szepetowski

    Хэвлэсэн 2012
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    Artigo
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  12. 12
    Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

    Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 -н Justin P. Rubio, Adrian Danek, Caroline Stone, R. M. Chalmers, Nicholas Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian Maria Fabrizi, M. Manfredi, Jeffery M. Vance, Margaret A. Pericak‐Vance, Robert H. Brown, Gabrielle Rudolf, Fabienne Picard, Elisa Alonso, Mitchell F. Brin, Andrea H. Németh, Martin Farrall, Anthony P. Monaco

    Хэвлэсэн 1997
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    Artigo
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  13. 13
    Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

    Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero -н Manal Salmi, Nadine Bruneau, Jennifer Cillario, Natalia Lozovaya, Annick Massacrier, Emmanuelle Buhler, Robin Cloarec, Timur Tsintsadze, Françoise Watrin, Vera Tsintsadze, Céline Zimmer, Claude Villard, Daniel Lafitte, Carlos Cardoso, Lan Bao, Gaëtan Lesca, Gabrielle Rudolf, Françoise Muscatelli, Vanessa Pauly, Ilgam Khalilov, Pascale Durbec, Yehezkel Ben‐Ari, Nail Burnashev, Alfonso Represa, Pierre Szepetowski

    Хэвлэсэн 2013
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    Artigo
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  14. 14
    Increased diagnostic yield in complex dystonia through exome sequencing

    Increased diagnostic yield in complex dystonia through exome sequencing -н Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly

    Хэвлэсэн 2020
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    Artigo
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  15. 15
    Idiopathic focal epilepsies: the “lost tribe”

    Idiopathic focal epilepsies: the “lost tribe” -н 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

    Хэвлэсэн 2016
    Бүрэн текст авах
    Revisão
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  16. 16
    SRPX2 mutations in disorders of language cortex and cognition

    SRPX2 mutations in disorders of language cortex and cognition -н Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E. Scheffer, Annick Massacrier, Mp Valenti, N. Roeckel-Trevisol, Sara Jamali, Christophe Béclin, Caroline Seegmüller, Mn Metz-Lutz, Arnaud Lemainque, Marc Delépine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, D. Depétris, Marie‐Geneviève Mattéi, Elisabeth Flori, Andrée Robaglia‐Schlupp, Nicolas Lévy, Ba Neubauer, Rivka Ravid, Christian Marescaux, Samuel F. Berkovic, Édouard Hirsch, Mark Lathrop, P. Cau, Pierre Szepetowski

    Хэвлэсэн 2006
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    Artigo
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  17. 17
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy -н Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joël Fluss, Julitta de Bellescize, Julia Scholly, Rikke S. Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti‐Hirsch, Caroline Schluth–Bolard, Frédérique Sloan‐Béna, Katherine L. Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E. Scheffer, Sha Tang, Candace T. Myers, Hannah Stamberger, Gemma L. Carvill, Deepali N. Shinde, Heather C. Mefford, Elena Neagu, Robert Huether, Hsiao‐Mei Lu, Alice Dica, Julie S. Cohen, Catrinel Iliescu, Cristina Pomeran, James L. Rubenstein, Ingo Helbig, Damien Sanlaville, Édouard Hirsch, Pierre Szepetowski

    Хэвлэсэн 2016
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    Artigo
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  18. 18
    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia -н Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton‐Smith, Alistair T. Pagnamenta, Kay Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cécile Masson, Ratna Tripathy, David A. Keays, Chérif Beldjord, Laurent Nguyen, Juliette D. Godin, Usha Kini, Patrick Nischké, Jean‐François Deleuze, Nadia Bahi‐Buisson, Izabela Sumara, María-Victoria Hinckelmann, Jamel Chelly

    Хэвлэсэн 2016
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    Artigo
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  19. 19
    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions -н Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha Roberson, Mark Hermann, Emily A. Quinn, James B. Maas, Robert H. Edwards, Tetsuo Ashizawa, Betül Baykan, Kailash P. Bhatia, Susan Bressman, Michiko Kimura Bruno, E. R. Brunt, Roberto Caraballo, Bernard Échenne, Natalio Fejerman, Steven J. Frucht, Christina A. Gurnett, Édouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohammed, Ulrich Müller, Mark Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing‐Wen Soong, Kathryn J. Swoboda, S. Craig Tucker, Nicholas Wood, Michael G. Hanna, A. Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček

    Хэвлэсэн 2012
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    Artigo
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  20. 20
    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp>

    Highlighting the Dystonic Phenotype Related to <scp><i>GNAO1</i></scp> -н Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amélie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren A. Marks, Lydie Bürglen, Diane Demailly, Phillipe Coubes, Mayté Castro Jimenez, Sylvie Joriot, Jamal Ghoumid, Jérémie Belin, Jean‐Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaëtan Poulen, Nadège Calmels, Andrea H. Németh, Martin A. Smith, Angela Barnicoat, Claire Ewenczyk, Aurélie Méneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Béroud, Fernando Delgado Acosta, C. Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean‐Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim

    Хэвлэсэн 2022
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    Artigo
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