Результати пошуку - Dorothée Ville

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  1. 1
    Prophylactic antiepileptic treatment in Sturge–Weber disease

    Prophylactic antiepileptic treatment in Sturge–Weber disease за авторством Dorothée Ville, O Enjolras, Catherine Chiron, Olivier Dulac

    Опубліковано 2002
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  2. 2
    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex

    Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex за авторством Claire Bar, Rouba Ghobeira, Rita Azzi, Dorothée Ville, Audrey Riquet, Renaud Touraine, Nicole Chémaly, Rima Nabbout

    Опубліковано 2019
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  3. 3
    Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome

    Ictal SPECT in children with epilepsy: comparison with intracranial EEG and relation to postsurgical outcome за авторством Anna Kaminśka, Catherine Chiron, Dorothée Ville, Georges Dellatolas, András Holló, Cécile Cieuta, C Jalin, Olivier Delalande, Martine Fohlen, Pierre Véra, Christine Soufflet, O Dulac

    Опубліковано 2002
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  4. 4
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients за авторством Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    Опубліковано 2011
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  5. 5
    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study

    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study за авторством Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie‐Pierre Cordier, P. Gaucherand, J. Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud

    Опубліковано 2017
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  6. 6
    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

    Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy за авторством Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaëtan Lesca, Audrey Labalme, Dorothée Ville, Thomas Smol, Mélanie Rama, Anne Dieux‐Coëslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela

    Опубліковано 2022
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  7. 7
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations за авторством Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benoı̂t Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu

    Опубліковано 2008
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  8. 8
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) за авторством Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    Опубліковано 2007
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  9. 9
    <i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

    <i>DEPDC5</i> mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy за авторством Fabienne Picard, Periklis Makrythanasis, Vincent Navarro, Saeko Ishida, Julitta de Bellescize, Dorothée Ville, Sarah Weckhuysen, Erwin Fosselle, Arvid Suls, Peter De Jonghe, Maryline Vasselon Raina, Gaëtan Lesca, Christel Depienne, Isabelle An-Gourfinkel, Mihaela Bustuchina ̆ Vlaicu, Michel Baulac, Emeline Mundwiller, Philippe Couarch, Romina Combi, Luigi Ferini‐Strambi, Antonio Gambardella, Stylianos E. Antonarakis, Eric LeGuern, Ortrud K. Steinlein, Stéphanie Baulac

    Опубліковано 2014
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  10. 10
    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures за авторством Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri, Jennifer N. Partlow, Dorothée Ville, Olivier Dulac, Timothy W. Yu, Anh-Thu N. Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Münnich, Laurence Colleaux, Leonard I. Zon, Dieter Söll, Christopher A. Walsh, Rima Nabbout

    Опубліковано 2014
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  11. 11
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... за авторством Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    Опубліковано 2018
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  12. 12
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases за авторством Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Опубліковано 2015
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  13. 13
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 за авторством Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Опубліковано 2013
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  14. 14
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy за авторством Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Опубліковано 2016
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  15. 15
    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</scp></i>): A cohort study, review of literature, and genotype–phenotype correlation

    Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</sc... за авторством Pierre‐Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise F. Porter, Caroline Perriard, Marie‐Thérèse Abi Wardé, Marie‐Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothée Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis‐Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gérard, Julietta de Bellescize, Laurent Villard, Anne de Saint Martin, Mathieu Milh

    Опубліковано 2022
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    Revisão
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  16. 16
    KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

    KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism за авторством Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James J. Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van‐Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S. Møller, Allan Bayat, Orrin Devinsky, Tristan T. Sands, Georg Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva H. Brilstra, Gaëtan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen

    Опубліковано 2022
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  17. 17
    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy за авторством Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera, María Eugenia Yoldi, Carlos Casasnovas, Mary Willis, Montserrat Ruíz, Dorothée Ville, Gaëtan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark A. Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N. James, Damir Musaev, Maha S. Zaki, Marc C. Patterson, Brendan C. Lanpher, Eric W. Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Sobreira, Julie S. Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G. Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug‐Tanguy, Aurora Pujol

    Опубліковано 2019
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  18. 18
    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy

    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy за авторством Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

    Опубліковано 2016
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  19. 19
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum за авторством Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Опубліковано 2021
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  20. 20
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation за авторством Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    Опубліковано 2016
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