Search Results - Flora Nolent

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  1. 1
    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis by Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

    Published 2015
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  2. 2
    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

    Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 by Jianping Zhou, Marcel Tawk, Francesco Danilo Tiziano, Julien Veillet, Mónica Bayés, Flora Nolent, Virginie Garcia, Serenella Servidei, Enrico Bertini, Francesc Castro-Giner, Yavuz Renda, Stéphane Carpentier, Nathalie Andrieu‐Abadie, Marta Gut, Thierry Levade, Haluk Topaloğlu, Judith Melki

    Published 2012
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  3. 3
    Tecovirimat is effective against human monkeypox virus in vitro at nanomolar concentrations

    Tecovirimat is effective against human monkeypox virus in vitro at nanomolar concentrations by Gaelle Frénois-Veyrat, Franck Gallardo, Olivier Gorgé, Elie Marcheteau, Olivier Ferraris, Artem Baidaliuk, Anne‐Laure Favier, Cécile Enfroy, Xavier Holy, Jérémy Lourenco, Rhéa Khoury, Flora Nolent, Douglas W. Grosenbach, Dennis E. Hruby, Audrey Ferrier, Frédéric Iseni, Etienne Simon‐Lorière, Jean‐Nicolas Tournier

    Published 2022
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  4. 4
    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

    Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita by Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M. Meireles, Kevin J. Paavola, Dominique Gaillard, Elisabeth Alanio, Michael E. Buckland, Susan Arbuckle, Michael Krivanek, Jérôme Maluenda, S. Pannell, Rebecca Gooding, Royston Ong, Richard J. N. Allcock, Ellaine Dóris Fernandes Carvalho, Maria D.F. Carvalho, Fernando Kok, William S. Talbot, Judith Melki, Nigel G. Laing

    Published 2015
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  5. 5
    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

    Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects by Annie Laquerrière, Jérôme Maluenda, Adrien Camus, Laura Fontenas, Klaus Dieterich, Flora Nolent, Jie Zhou, Nicole Monnier, Philippe Latour, D. Gentil, D. Héron, I. Desguerres, P. Landrieu, Claire Bénéteau, B. Delaporte, Céline Bellesme, C. Baumann, Yline Capri, Alice Goldenberg, Stanislas Lyonnet, Dominique Bonneau, B. Estournet, Susana Quijano-Roy, Christine Francannet, S. Odent, Marie‐Hélène Saint‐Frison, Sabine Sigaudy, Dominique Figarella‐Branger, A. Gélot, J M Mussini, C. Lacroix, Valérie Drouin‐Garraud, Marie‐Claire Malinge, Tania Attié‐Bitach, B. Bessières, Maryse Bonnière, Férechté Encha‐Razavi, A. M. Beaufrére, S. Khung-Savatovsky, María José Pérez, Alexandre Vasiljevic, Sandra Mercier, J. Roume, Laetitia Trestard, Pascale Saugier‐Veber, Marie‐Pierre Cordier, Valérie Layet, Marine Legendre, Adeline Vigouroux‐Castera, Joël Lunardi, Mónica Bayés, Pierre‐Simon Jouk, Luc Rigonnot, Michèle Granier, Damien Sternberg, J. Warszawski, Marta Gut, M. Gonzalés, Marcel Tawk, Judith Melki

    Published 2013
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  6. 6
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy by Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G.R. Quinlan, Vilma‐Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan‐Birsoy, David S. Gokhin, Jérôme Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett Thomas, Stacey Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana Gupta, Līvija Medne, Patrick Shannon, Nicole Martin, David Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A. C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren‐Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke

    Published 2014
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  7. 7
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita by Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki

    Published 2021
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