Rezultati - Cyril Gitiaux

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  1. 1
    Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline

    Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline od Claire Latroche, Cyril Gitiaux, Fabrice Chrétien, Isabelle Desguerre, Rémi Mounier, Bénédicte Chazaud

    Izdano 2015
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  2. 2
    Mutations in the telomere capping complex in bone marrow failure and related syndromes

    Mutations in the telomere capping complex in bone marrow failure and related syndromes od A. J. Walne, Tushar D. Bhagat, M. Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Eva Nogales, T. Vulliamy, Inderjeet Dokal

    Izdano 2012
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  3. 3
    Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis

    Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis od Cyril Gitiaux, Marie De Antonio, Jessie Aouizerate, Romain K. Gherardi, Thomas Guilbert, Christine Barnérias, Christine Bodemer, Karine Brochard-Payet, Pierre Quartier, Lucile Musset, Bénédicte Chazaud, Isabelle Desguerre, Brigitte Bader‐Meunier

    Izdano 2015
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  4. 4
    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations od Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminśka, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli, Cécile Mignon‐Ravix, Hélène Cuberos, B. Chabrol, Laurent Villard

    Izdano 2011
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  5. 5
    Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis

    Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis od Cyril Gitiaux, Claire Latroche, Michèle Weiss‐Gayet, Mathieu P. Rodero, Darragh Duffy, Brigitte Bader‐Meunier, Christophe Glorion, Patrick Nusbaum, Christine Bodemer, Guy Mouchiroud, Jamel Chelly, Stéphane Germain, Isabelle Desguerre, Bénédicte Chazaud

    Izdano 2017
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  6. 6
    A child with severe juvenile dermatomyositis treated with ruxolitinib

    A child with severe juvenile dermatomyositis treated with ruxolitinib od Florence A. Aeschlimann, Marie‐Louise Frémond, Darragh Duffy, Gillian Rice, Jean‐Luc Charuel, Vincent Bondet, Elsa Saire, Bénédicte Neven, Christine Bodemer, Laurent Balu, Cyril Gitiaux, Yanick J. Crow, Brigitte Bader‐Meunier

    Izdano 2018
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  7. 7
    Coupling between Myogenesis and Angiogenesis during Skeletal Muscle Regeneration Is Stimulated by Restorative Macrophages

    Coupling between Myogenesis and Angiogenesis during Skeletal Muscle Regeneration Is Stimulated by Restorative Macrophages od Claire Latroche, Michèle Weiss‐Gayet, Laurent Muller, Cyril Gitiaux, Pascal Leblanc, Sophie Liot, Sabrina Ben-Larbi, Rana Abou-Khalil, Nicolas Verger, Paul Bardot, Mélanie Magnan, Fabrice Chrétien, Rémi Mounier, Stéphane Germain, Bénédicte Chazaud

    Izdano 2017
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  8. 8
    Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis

    Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis od Jessie Aouizerate, Marie De Antonio, Brigitte Bader‐Meunier, Christine Barnérias, Christine Bodemer, Arnaud Isapof, Pierre Quartier, Isabelle Melki, Jean‐Luc Charuel, Guillaume Bassez, Isabelle Desguerre, Romain K. Gherardi, François‐Jérôme Authier, Cyril Gitiaux

    Izdano 2018
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  9. 9
    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

    Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells od Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Cyril Gitiaux, Christine Barnérias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François‐Jérôme Authier, Chiara Fiorillo, Frédéric Relaix, Edoardo Malfatti

    Izdano 2023
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  10. 10
    Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

    Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients od 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

    Izdano 2008
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  11. 11
    JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study

    JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study od Tom Le Voyer, Cyril Gitiaux, François‐Jérôme Authier, Christine Bodemer, Isabelle Melki, Pierre Quartier, Florence A. Aeschlimann, Arnaud Isapof, Jean‐Philippe Herbeuval, Vincent Bondet, Jean‐Luc Charuel, Marie‐Louise Frémond, Darragh Duffy, Mathieu P. Rodero, Brigitte Bader‐Meunier

    Izdano 2021
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  12. 12
    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    <i>GPATCH11</i>variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Cristina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Carlo Rivolta, Josseline Kaplan, Jean‐Michel Rozet, Isabelle Perrault

    Izdano 2023
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  13. 13
    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

    GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment od Isabelle Perrault, Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nathalie Boddaert, Sylvain Briault, Ange‐Line Bruel, Cyril Gitiaux, Karolina Kamińska, Nicole Philip-Sarles, Mathieu Quinodoz, Christina Santos, Luísa Coutinho Santos, Sabine Sigaudy, Mariana Soeiro, Ana Berta Sousa, Christel Thauvin, Josseline Kaplan, Carlo Rivolta, Jean‐Michel Rozet

    Izdano 2023
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  14. 14
    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 od 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

    Izdano 2013
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  15. 15
    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans od Thuy-Linh Le, Louise Galmiche, J Levý, Pim Suwannarat, Debby M.E.I. Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom E. J. Theunissen, Mathilde Lefebvre, Anna Pelet, Jéléna Martinovic, A. Gélot, Fabien Guimiot, Amanda Calleroz, Cyril Gitiaux, Marie Hully, Olivier Goulet, Christophe Chardot, Séverine Drunat, Yline Capri, Christine Bôle‐Feysot, Patrick Nitschké, Sandra Whalen, L. Mouthon, Holly E. Babcock, Robert M.W. Hofstra, Irenaeus F.M. de Coo, Anne‐Claude Tabet, Thierry Jo Molina, Boris Keren, Alice Brooks, Hubert J.M. Smeets, Ulrika Marklund, Christopher T. Gordon, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand

    Izdano 2021
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  16. 16
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update od Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Izdano 2017
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  17. 17
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder od Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

    Izdano 2021
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  18. 18
    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

    Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita od 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

    Izdano 2021
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