检索结果 - Jacques Motté
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Epidemiological, Molecular, and Clinical Features of Enterovirus Respiratory Infections in French Children between 1999 and 2005 由 Jérôme Jacques, Hélène Moret, Delphine Minette, Nicolas Lévêque, Nicolas Jovenin, Gaëtan Deslée, François Lebargy, Jacques Motté, Laurent Andréoletti
出版 2007Artigo -
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Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome 由 Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque, Marguerite Gastaldi, Bernard Échenne, Jacques Motté, Pierre Genton, Ricardo Cersósimo, Véronique Humbertclaude, Natalio Fejerman, Anthony P. Monaco, Mark G. Lathrop, Jacques Rochette, Pierre Szepetowski
出版 2001Artigo -
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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome 由 Vincent des Portes, Jean Marc Pinard, Pierre Billuart, Marie Claude Vinet, Annette Koulakoff, Alain Carrié, A. Gélot, Elisabeth Dupuis, Jacques Motté, Yoheved Berwald‐Netter, Martin Catala, Axel Kahn, Chérif Beldjord, Jamel Chelly
出版 1998Artigo -
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Levodopa-responsive dystonia 由 Jean‐Pol Tassin, Alexandra Dürr, Muriel Bonnet, Roger Gil, Marie Vidailhet, Christoph B. Lücking, Jean-Yves Goas, Franck Durif, Myriem Abada, Bernard Échenne, Jacques Motté, A Lagueny, Lucette Lacomblez, Pierre Jedynak, Barbara Bartholomé, Y. Agid, Alexis Brice
出版 2000Artigo -
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Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism 由 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
出版 2012Artigo -
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Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients 由 Cyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, Constance Flamand‐Rouvière, Nathalie Boddaert, Emmanuelle Apartis, Vassili Valayannopoulos, Guy Touati, Jacques Motté, David Devos, Karine Mention, Dries Dobbelaere, Diana Rodriguez, Agathe Roubertie, B. Chabrol, François Feillet, Marie Vidailhet, Nadia Bahi‐Buisson
出版 2008Artigo -
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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> 由 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
出版 2013Artigo -
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth 由 Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motté, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng‐Ye Man
出版 2013Artigo -
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<i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine 由 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
出版 2012Artigo -
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Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome 由 Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Pïcard, Anne Durandy, Angus Dobbie, Delphine Héron, Bertrand Isidor, Jacques Motté, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, G��raldine Viot, Francis Jaubert, Arnold Münnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel
出版 2009Artigo -
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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain 由 M. Elizabeth Ross, Kristina M. Allen, Anand Srivastava, T. Featherstone, Joseph G. Gleeson, Betsy Hirsch, Brian Harding, Eva Andermann, Rabi Abdullah, Michael J. van den Berg, Désirée Czapansky-Bielman, D. Flanders, Renzo Guerrini, Jacques Motté, Alberto Puche Mira, Ingrid E. Scheffer, Samuel F. Berkovic, Francesco Scaravilli, Richard A. King, David H. Ledbetter, David Schlessinger, William B. Dobyns, Christopher A. Walsh
出版 1997Artigo -
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients 由 Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Nicolas Gruchy, Bruno Delobel, Marie‐José Gregoire, Bruno Leheup, Laurence Taine, Didier Lacombe, Marie‐Ange Delrue, Annick Toutain, Agathe Paubel, Francine Mugneret, Christel Thauvin‐Robinet, Stéphanie Arpin, Cédric Le Caignec, Philippe Jonveaux, Mylène Béri, Nathalie Leporrier, Jacques Motté, Caroline Fiquet, Olivier Brichet, Monique Mozelle-Nivoix, Pascal Sabouraud, Nathalie Golovkine, Nathalie Bednarek, Dominique Gaillard, Martine Doco‐Fenzy
出版 2012Artigo -
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Megalencephalic leukoencephalopathy with subcortical cysts 由 Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalçınkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zühal Yapıcı, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap, Hugo Hernán Abarca-Barriga, Samer Abdelrazeq, Gül Serdaroğlu, P. Ian Andrews, Richard Appleton, Lucia Argandoña Palacios, Brenda Banwell, Florian Bauder, Gülçin Benbir Şenel, Tim A. Benke, Susan Blasér, Annette Bley, Cristiana Brenner, Knut Brockmann, Rafael Camino, Coriene E. Catsman‐Berrevoets, Yanick J. Crow, M. A. J. Scott R. Dalton, María de la Luz Arenas‐Sordo, Linda De Meırleır, Ana Isabel Dias, Francis J. DiMario, Maria Alice Donati, Nihal Olgaç Dündar, François Feillet, Maria José Fonseca, Emilio Franzoni, Jeremy L. Freeman, Katsunori Fujii, Soumya Ghosh, Scott Gold, Solange Gril, Barbara Hallinan, Ágnes Herczegfalvi, Jozef Hertecant, Joannie Hui, David Hunt, Parul Jayakar, Bülent Kara, Çiğdem Seher Kasapkara, Gülşen Kocaman, David M. Koeller, Wolfgang Köhler, Alfried Kohlschütter, Marja Koivusalo, Urania Kotzaeridou, Roshan Koul, Ingeborg Krägeloh‐Mann, Ružica Kravljanac, Gerhard Kurlemann, Julian Lara Herguedas, Silvia Laurentino, Richard J. Leventer, Bryan Lynch, Oliver Maier, Sascha Meyer, Olivera Miljanović, José Paulo Monteiro, Ellen Moran, T. Moreno, Jacques Motté, C. D. Moyes, Lakshmi Nagarajan, Marie‐Cécile Nassogne, Slavica Ostojić, P Pietsch, Iliana Porfiri, Sofia Quintas, Maria Belen Ramos, Deborah L. Renaud, Biserka Rešić, Carolina Rivera Nieto, Jutta Rummel, Robert Rusina, Mustafa A. Salih, Sabine Scholl‐Bürgi, Bitten Schönewolf‐Greulich, Snehal Shah, Suvasini Sharma, Gabriella Silvestri, Komudi Siriwardena, Victoria Mok Siu, Anne‐Bine Skytte, Zeyneb Soysal, Carlos Eduardo Speck Martins, Angela Sun, Burak Tatlı
出版 2018Artigo
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Biology
Medicine
Genetics
Gene
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Psychiatry
Psychology
Bioinformatics
Copy-number variation
Dystonia
Epilepsy
Genome
Parkinson's disease
Pathology
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Autism spectrum disorder
Central nervous system
Chromosome
Dentate gyrus
Dyskinesia
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Lissencephaly
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Paroxysmal dyskinesia