検索結果 - Claude Cancès

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  1. 1
    Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

    Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset 著者: Marc Bitoun, Jorge A. Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lía Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cancès, Emmanuelle Uro‐Coste, M. Mayer, Michel Fardeau, Norma B. Romero, Pascale Guicheney

    出版事項 2007
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    Artigo
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  2. 2
    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

    Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation 著者: Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid, Yosra Bouyacoub, Pauline Barreau, Simon Samaan, Haifa Jmel, Eléonore Eymard‐Pierre, Claude Cancès, Céline Bar, Anne‐Lise Poulat, Christophe Rousselle, Florence Renaldo, Monique Elmaleh- Bergès, Martin Teichmann, Odile Boespflug‐Tanguy

    出版事項 2018
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    Artigo
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  3. 3
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations 著者: 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

    出版事項 2008
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    Artigo
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  4. 4
    Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

    Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study 著者: M. Annoussamy, A. Seferian, Aurore Daron, Yann Péréon, Claude Cancès, Carole Vuillerot, Liesbeth De Waele, Vincent Laugel, Ulrike Schara, Teresa Gidaro, C. Lilien, Jean‐Yves Hogrel, Pierre G. Carlier, Emmanuel Fournier, Linda Lowes, Ksenija Gorni, Myriam Ly‐Le Moal, Nicole Hellbach, Timothy J. Seabrook, Christian Czech, Ricardo Hermosilla, Laurent Servais

    出版事項 2020
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    Artigo
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  5. 5
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly 著者: Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    出版事項 2009
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    Artigo
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  6. 6
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients 著者: Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    出版事項 2021
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    Artigo
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  7. 7
    Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study

    Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study 著者: Claude Cancès, D. Vlodavets, Giacomo P. Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, R. Scalco, Basil T. Darras, Katia Alberti, Giovanni Baranello, Nina Barišić, Noemi Brolatti, Claudio Bruno, Claude Cancès, Giacomo P. Comi, Basil T. Darras, Nicolas Deconinck, Elke De Vos, Liesbeth De Waele, Angela Dodman, Claudia Dosi, Muna El-Khairi, Amanda Engelbrekt, Nathalie Goemans, Ksenija Gorni, Alessandra Govoni, Isaac Gravestock, Kazuhiro Haginoya, Janine Hoffart, Katarzyna Kotulska, Laure Le Goff, Alexis Levine, Saidi Manel, Riccardo Masson, Chiara Mastella, Eleonora Mauri, Maria Mazurkiewicz-Bełdzińska, Megi Meneri, Isabella Moroni, Katarzyna Pierzchlewicz, Aurélie Portefaix, A. Prufer, Myriam Rauso, Kayoko Saito, R. Scalco, Veronica Schembri, Mariangela Sicolo, Valentine Tahon, Josipa Tomas, Dominique Vincent-Genod, D. Vlodavets, Carole Vuillerot, Kazuyuki Yotsumata, Edmar Zanoteli

    出版事項 2022
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    Artigo
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  8. 8
    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 著者: 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

    出版事項 2015
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    Artigo
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  9. 9
    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

    Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study 著者: Frédérique Audic, M. Gómez García de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, J. Durigneux, Christine Barnérias, Arnaud Isapof, Jean‐Marie Cuisset, Claude Cancès, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil‐Taris, Ulrike Walther‐Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, P. Bèze-Beyrie, Vanessa Pauly, Susana Quijano‐Roy, B. Chabrol, Isabelle Desguerre

    出版事項 2020
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    Artigo
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  10. 10
    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly 著者: Karine Poirier, Nicolas Lebrun, Loïc Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stéphanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Francesca Darra, Claude Cancès, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie Nguyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschké, Thierry Hieu, Cécile Masson, Diana Zélénika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly

    出版事項 2013
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    Artigo
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  11. 11
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome 著者: Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow

    出版事項 2018
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    Carta
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  12. 12
    A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

    A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy 著者: Nathalie Goemans, Eugenio Mercuri, Е. Д. Белоусова, Hirofumi Komaki, Alberto Dubrovsky, Craig M. McDonald, John E. Kraus, Afrodite Lourbakos, Zhengning Lin, Giles Campion, Susanne X. Wang, Craig Campbell, Abelardo Araújo, Enrico Bertini, Peter Born, Claude Cancès, B. Chabrol, Jong‐Hee Chae, J. Colomer Oferil, Giacomo P. Comi, J. Cuisset, Guy D’Anjou, Isabelle Desguerre, Ricardo Erazo Torricelli, Raúl G. Escobar, David Feder, Alessandra Ferlini, Roberto Giugliani, Erik Henricson, Ágnes Herczegfalvi, Yuh‐Jyh Jong, Shigemi Kimura, Janbernd Kirschner, Karin Kleinsteuber, Anna Kostera‐Pruszczyk, Martin Kudr, Wolfgang Mueller‐Felber, Erik H. Niks, Katsuhisa Ogata, Concetta Palermo, Marika Pane, Samuel Ignacio Pascual Pascual, Yann Péréon, Salmo Raskin, Magnhild Rasmussen, U.C. Reed, Ulrike Schara, Kathryn Selby, Cláudia Ferreira da Rosa Sobreira, Yasuhiro Takeshima, Juan J. Vílchez, Gian Luca Vita, Petr Vondráček, Gert Wiegand, Ekkehard Wilichowski

    出版事項 2017
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    Artigo
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