Výsledky vyhledávání - Sylvia Sanquer

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  1. 1
    Fasting upregulates the monocarboxylate transporter MCT1 at the rat blood-brain barrier through PPAR δ activation

    Fasting upregulates the monocarboxylate transporter MCT1 at the rat blood-brain barrier through PPAR δ activation Autor Stéphanie Chasseigneaux, Véronique Cochois-Guégan, Lucas Lecorgne, Murielle Lochus, Sophie Nicolic, Corinne Blugeon, Laurent Jourdren, David Gómez-Zepeda, Stefan Tenzer, Sylvia Sanquer, Valérie Nivet‐Antoine, Marie‐Claude Menet, Jean Laplanche, Xavier Declèves, Salvatore Cisternino, Bruno Saubaméa

    Vydáno 2024
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  2. 2
    CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

    CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation Autor Emmanuel Martin, Noé Palmic, Sylvia Sanquer, Christelle Lenoir, Fabian Hauck, Cédric Mongellaz, Sylvie Fabrega, Patrick Nitschké, Mauro Degli Esposti, Jeremy Schwartzentruber, Naomi Taylor, Jacek Majewski, Nada Jabado, Robert Wynn, Capucine Pïcard, Alain Fischer, Peter D. Arkwright, Sylvain Latour

    Vydáno 2014
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  3. 3
    Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation

    Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation Autor Emmanuel Martin, Norbert Minet, Anne‐Claire Boschat, Sylvia Sanquer, Steicy Sobrino, Christelle Lenoir, Jean‐Pierre de Villartay, Maria Leite‐de‐Moraes, Capucine Pïcard, Claire Soudais, Tim Bourne, Sophie Hambleton, Stephen Hughes, Robert Wynn, Tracy A. Briggs, Smita Y. Patel, Monica G. Lawrence, Alain Fischer, Peter D. Arkwright, Sylvain Latour

    Vydáno 2020
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  4. 4
    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome Autor Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, D. Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Névo, Ewen Lescop, Daniela A. Braun, Anne‐Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau‐Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet

    Vydáno 2019
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  5. 5
    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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  6. 6
    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly Autor Daniela A. Braun, Jia Rao, Géraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst‐Schwan, Johanna Magdalena Schmidt, Jennifer A. Lawson, Denny Schanze, Shazia Ashraf, Jeremy F.P. Ullmann, Charlotte A. Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Mónica Furlano, Ida Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer Hu, Anne‐Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won‐Il Choi, Carolin E. Sadowski, Werner L. Pabst, Jillian K. Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D. Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, M. Bruce, Gaik-Siew Ch’ng, Shuan‐Pei Lin, Jui-Hsing Chang, Chao‐Huei Chen, Megan T. Cho, Patrick M. Gaffney, Patrick Gipson, Chyong-Hsin Hsu, Jameela A. Kari, Yu-Yuan Ke, Cathy Kiraly‐Borri, Wai-ming Lai, Emmanuelle Lemyre, Rebecca O. Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Özaltın, Marleen Praet, Chitra Prasad, Agnieszka Prytula-Ebels, Elizabeth Roeder, Patrick Rump, Rhonda E. Schnur, Takashi Shiihara, Manish D. Sinha, Neveen A. Soliman, Kenza Soulami, David A. Sweetser, Wen‐Hui Tsai, Jeng-Daw Tsai, Rezan Topaloĝlu, Udo Vester, David H. Viskochil, Nithiwat Vatanavicharn, Jessica L. Waxler, Klaas J. Wierenga, Matthias T. F. Wolf, Sik-Nin Wong, Sebastian A. Leidel, Gessica Truglio, Peter C. Dedon, Annapurna Poduri, Shrikant Mane, Richard P. Lifton, Maxime Bouchard, Pekka Kannus, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker

    Vydáno 2017
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