Zoekresultaten - A. Gélot

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  1. 1
    Review article: associations between immune activation, intestinal permeability and the irritable bowel syndrome

    Review article: associations between immune activation, intestinal permeability and the irritable bowel syndrome door Julien Matricon, Mathieu Méleine, A. Gélot, T. Piche, Michel Dapoigny, Émilie Muller, Denis Ardid

    Gepubliceerd in 2012
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  2. 2
    Alexander disease: putative mechanisms of an astrocytic encephalopathy

    Alexander disease: putative mechanisms of an astrocytic encephalopathy door Cyril Mignot, Odile Boespflug‐Tanguy, A. Gélot, A. Dautigny, Danielle Pham-Dinh, Diana Rodriguez

    Gepubliceerd in 2004
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  3. 3
    Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum

    Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum door Ori Shen, A. Gélot, Marie‐Laure Moutard, Jean‐Marie Jouannic, Hen Y. Sela, Cathérine Garel

    Gepubliceerd in 2015
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  4. 4
    Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly

    Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly door A. Gélot, Tangra Draia-Nicolau, Rémi Mathieu, Lucas Silvagnoli, Françoise Watrin, Carlos Cardoso, Jean‐Bernard Manent, Antoine de Chevigny, Alfonso Represa

    Gepubliceerd in 2025
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  5. 5
    Associations among body size across the life course, adult height and endometriosis

    Associations among body size across the life course, adult height and endometriosis door Leslie V. Farland, Stacey A. Missmer, Anne Bijon, Gaëlle Gusto, A. Gélot, F. Clavel‐Chapelon, Sylvie Mesrine, Marie‐Christine Boutron‐Ruault, Marina Kvaskoff

    Gepubliceerd in 2017
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  6. 6
    Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

    Congenital Glutamine Deficiency with Glutamine Synthetase Mutations door Johannes Häberle, Boris Görg, Frank Rutsch, Éva Schmidt, Annick Toutain, Jean‐François Benoist, A. Gélot, Annie‐Laure Suc, Wolfgang Höhne, Freimut Schliess, Dieter Häussinger, Hans Georg Koch

    Gepubliceerd in 2005
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  7. 7
    Colonic overexpression of the T-type calcium channel Ca<sub>v</sub>3.2 in a mouse model of visceral hypersensitivity and in irritable bowel syndrome patients

    Colonic overexpression of the T-type calcium channel Ca<sub>v</sub>3.2 in a mouse model of visceral hypersensitivity and in irritable bowel syndrome patients door Julien Scanzi, Alison Accarie, Émilie Muller, Bruno Pereira, Youssef Aissouni, Marion Goutte, Juliette Joubert‐Zakeyh, Elodie Picard, Ludivine Boudieu, Christophe Mallet, A. Gélot, Denis Ardid, Frédéric A. Carvalho, Michel Dapoigny

    Gepubliceerd in 2016
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  8. 8
    Anti-nociceptive effect of Faecalibacterium prausnitzii in non-inflammatory IBS-like models

    Anti-nociceptive effect of Faecalibacterium prausnitzii in non-inflammatory IBS-like models door Sylvie Miquel, Rebeca Martín, Amandine Lashermes, M. Gillet, Mathieu Méleine, A. Gélot, Alain Eschalier, Denis Ardid, Luis G. Bermúdez‐Humarán, Harry Sokol, Muriel Thomas, V. Théodorou, Philippe Langella, Frédéric A. Carvalho

    Gepubliceerd in 2016
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  9. 9
    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome door Vincent des Portes, Jean Marc Pinard, Pierre Billuart, Marie Claude Vinet, Annette Koulakoff, Alain Carrié, A. Gélot, Elisabeth Dupuis, Jacques Motté, Yoheved Berwald‐Netter, Martin Catala, Axel Kahn, Chérif Beldjord, Jamel Chelly

    Gepubliceerd in 1998
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  10. 10
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion door Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Gepubliceerd in 2012
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  11. 11
    Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

    Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation door Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie Nguyen, Cyril Goizet, A. Gélot, Robert Surtees, Jean‐Michel Pédespan, X. Hernandoréna, M. Troncoso, G. Uziel, Albee Messing, G Ponsot, Danielle Pham-Dinh, André Dautigny, Odile Boespflug‐Tanguy

    Gepubliceerd in 2001
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  12. 12
    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy door Cristiana Pelorosso, Françoise Watrin, Valerio Conti, Emmanuelle Buhler, A. Gélot, Xiaoxu Yang, Davide Mei, Jennifer McEvoy‐Venneri, Jean‐Bernard Manent, Valentina Cetica, Laurel Ball, Anna Maria Buccoliero, Antonin Vinck, Carmen Barba, Joseph G. Gleeson, Renzo Guerrini, Alfonso Represa

    Gepubliceerd in 2019
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  13. 13
    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms door Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter L. Myers, A. Gélot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Isabelle Le Ber

    Gepubliceerd in 2019
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  14. 14
    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity door Laura Planas‐Serra, Nathalie Launay, Leire Goicoechea, Bénédicte Héron, Cristina Jou, Natalia Juliá‐Palacios, Montserrat Ruíz, Stéphane Fourcade, Carlos Casasnovas, Carolina de la Torre, A. Gélot, María Marsal, Pablo Loza‐Álvarez, Àngels García‐Cazorla, Ali Fatemi, Isidró Ferrer, Manuel Portero‐Otín, Estela Area‐Gómez, Aurora Pujol

    Gepubliceerd in 2023
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  15. 15
    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent <i>de novo</i> splice site variant involving <i>DNM1</i> exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism door Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    Gepubliceerd in 2022
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  16. 16
    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

    A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism door Shridhar Parthasarathy, Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David B. Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Xie, Laina Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, Alexandra N Grace, Julien Buratti, Cyril Mignot, Domitille Gras, Caroline Nava, Samuel R. Pierce, Boris Keren, Benjamin C. Kennedy, Sérgio D.J. Pena, Ingo Helbig, Vishnu Anand Cuddapah

    Gepubliceerd in 2022
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  17. 17
    Microglia maintain structural integrity during fetal brain morphogenesis

    Microglia maintain structural integrity during fetal brain morphogenesis door Akindé René Lawrence, Alice Canzi, Cécile Bridlance, Nicolas Olivié, Claire Lansonneur, Clarissa Catale, Lara Pizzamiglio, Benoit Kloeckner, Aymeric Silvin, David A. D. Munro, Aurélien Fortoul, Davide Boido, Feriel Zehani, Hugues Cartonnet, Sarah Viguier, Guillaume Oller, Paola Squarzoni, Adrien Candat, Julie Helft, Cécile Allet, Françoise Watrin, Jean‐Bernard Manent, Pierre Paoletti, Denis Thieffry, Laura Cantini, Clare Pridans, Josef Priller, A. Gélot, Paolo Giacobini, Luisa Ciobanu, Florent Ginhoux, Morgane Sonia Thion, Ludmilla Lokmane, Sonia Garel

    Gepubliceerd in 2024
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  18. 18
    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

    Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons door Karen Runge, Rémi Mathieu, Stéphane Bugeon, Sahra Lafi, Corinne Beurrier, Surajit Sahu, Fabienne Schaller, Arthur Loubat, Léonard Hérault, Stéphane Gaillard, Emilie Pallesi‐Pocachard, Aurélie Montheil, Andreas Bosio, Jill A. Rosenfeld, Eva Hudson, Kristin Lindstrom, Saadet Mercimek‐Andrews, Lauren Jeffries, Arie van Haeringen, Olivier Vanakker, Audrey Van Hecke, Dina Amrom, Sébastien Küry, Chana Ratner, Reena Jethva, Candace Gamble, Bernard Jacq, Laurent Fasano, Gabriel Santpere, Belén Lorente-Galdós, Nenad Šestan, A. Gélot, Sylvie Giacuzz, Sandra Goebbels, Alfonso Represa, Carlos Cardoso, Harold Cremer, Antoine de Chevigny

    Gepubliceerd in 2021
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  19. 19
    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 door 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

    Gepubliceerd in 2021
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  20. 20
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction door Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Gepubliceerd in 2015
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