Výsledky vyhledávání - Marie Hully

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  1. 1
    The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

    The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Autor Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly

    Vydáno 2014
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    Artigo
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  2. 2
    New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

    New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum Autor Nadia Bahi‐Buisson, Isabelle Souville, Franck J. Fourniol, Aurélie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf‐Nazzal, Marie Hully, Pierre Louis Léger, Caroline Elie, Nathalie Boddaert, Chérif Beldjord, Jamel Chelly, Fiona Francis

    Vydáno 2013
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  3. 3
    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A Autor Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraïtag, Gillian Rice, Ashish Dhir, Marie‐Louise Frémond, Mathieu P. Rodero, Luís Seabra, Edwin Carter, Christine Bodemer, Daniela Buhaş, Bert Callewaert, Pascale de Lonlay, Lien De Somer, David A. Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A. Kurian, Hugh J. McMillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    Vydáno 2021
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  4. 4
    Delineating <i>FOXG1</i> syndrome

    Delineating <i>FOXG1</i> syndrome Autor Nancy Végas, Mara Cavallin, Camille Maillard, Nathalie Boddaert, Joseph Toulouse, Élise Schaefer, Tally Lerman‐Sagie, Dorit Lev, Magalie Barth, Sébastien Moutton, Eric Haan, Bertrand Isidor, Delphine Héron, Mathieu Milh, S. Rondeau, Caroline Michot, Stéphanie Valence, Sabrina Wagner, Marie Hully, Cyril Mignot, Alice Masurel, Alexandre Datta, Sylvie Odent, Mathilde Nizon, Leïla Lazaro, Marie Vincent, Benjamin Cogné, Anne Marie Guerrot, Stéphanie Arpin, Jean Michel Pedespan, Isabelle Caubel, Bénédicte Pontier, Baptiste Troude, François Rivier, Christophe Philippe, Thierry Bienvenu, Marie‐Aude Spitz, Amandine Béry, Nadia Bahi‐Buisson

    Vydáno 2018
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  5. 5
    Detection of interferon alpha protein reveals differential levels and cellular sources in disease

    Detection of interferon alpha protein reveals differential levels and cellular sources in disease Autor Mathieu P. Rodero, Jérémie Decalf, Vincent Bondet, David Hunt, Gillian Rice, Scott Werneke, Sarah McGlasson, Marie‐Alexandra Alyanakian, Brigitte Bader‐Meunier, Christine Barnérias, N. Bellon, Alexandre Bélot, Christine Bodemer, Tracy A. Briggs, Isabelle Desguerre, Marie‐Louise Frémond, Marie Hully, Arn M. J. M. van den Maagdenberg, Isabelle Melki, Isabelle Meyts, Lucile Musset, Nadine Pelzer, Pierre Quartier, Gisela M. Terwindt, Joanna M. Wardlaw, Stewart Wiseman, Frédéric Rieux‐Laucat, Y Rose, Bénédicte Neven, Christina Hertel, Adrian Hayday, Matthew L. Albert, Flore Rozenberg, Yanick J. Crow, Darragh Duffy

    Vydáno 2017
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  6. 6
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome Autor 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

    Vydáno 2018
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    Carta
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  7. 7
    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 Autor 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

    Vydáno 2021
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  8. 8
    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study Autor Marie‐Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Carla Almeida, Claire‐Marine Bérat, Chloé Durrleman, Caroline Espil, Laëtitia Lambert, C. Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian Rice, Luís Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader‐Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven

    Vydáno 2023
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  9. 9
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease Autor Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    Vydáno 2017
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  10. 10
    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

    <i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Autor Laura Cif, Diane Demailly, Jean‐Pierre Lin, Katy Barwick, Mario Sa, Lucia Abela, Sony Malhotra, W.K. Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn Applegate, Sanaz Attaripour Isfahani, Julien Baleine, Bettina Balint, Jennifer A. Bassetti, Emma L. Baple, Kailash P. Bhatia, Catherine Blanchet, Lydie Bürglen, Gilles Cambonie, Emilie Chan Seng, Sandra Chantot‐Bastaraud, Fabienne Cyprien, Christine Coubes, Vincent d’Hardemare, Asif Doja, Nathalie Dorison, Diane Doummar, Marisela Dy-Hollins, Ellyn Farrelly, David Fitzpatrick, Conor Fearon, Elizabeth L. Fieg, Brent L. Fogel, Eva Forman, Rachel Fox, William A. Gahl, Serena Galosi, Victoria González, Tracey D. Graves, Allison Gregory, Mark Hallett, Harutomo Hasegawa, Susan J. Hayflick, Ada Hamosh, Marie Hully, Sandra Jansen, Suh Young Jeong, Joel B. Krier, Sidney Krystal, Kishore R. Kumar, Chloé Laurencin, Hane Lee, Gaëtan Lesca, Laurence Lion François, Timothy Lynch, Neil Mahant, Julián A. Martínez-Agosto, Christophe Milési, Kelly A. Mills, M. Mondain, Hugo Morales‐Briceño, John R. Østergaard, Swasti Pal, J. Carl Pallais, Frédérique Pavillard, Pierre-Francois Perrigault, Andrea Petersen, Gustavo Polo, Gaëtan Poulen, Tuula Rinne, Thomas Roujeau, Caleb Rogers, Agathe Roubertie, Michelle Sahagian, Élise Schaefer, Laila Selim, Richard Selway, Nutan Sharma, Rebecca Signer, Ariane Soldatos, David A. Stevenson, Fiona Stewart, Michel Tchan, Ishwar C. Verma, Bert B A de Vries, Jenny L. Wilson, Derek A. Wong, Raghda Mohamed Hesham Zaitoun, Dolly Zhen, Anna Znaczko, Russell C. Dale, Claudio M. de Gusmão, Jennifer Friedman

    Vydáno 2020
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