Works matching AU Gelot, Antoinette

Results: 29
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    Inborn error of amino acid synthesis: Human glutamine synthetase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2006, v. 29, n. 2/3, p. 352, doi. 10.1007/s10545-006-0256-5
    By:
    • Häberle, Johannes;
    • Görg, Boris;
    • Toutain, Annick;
    • Rutsch, Frank;
    • Benoist, Jean-François;
    • Gelot, Antoinette;
    • Suc, Annie-Laure;
    • Koch, Hans;
    • Schliess, Freimut;
    • Häussinger, Dieter
    Publication type:
    Article
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    Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2099, doi. 10.1111/epi.18325
    By:
    • Gelot, Antoinette‐Bernabe;
    • Draia‐Nicolau, Tangra Ondina;
    • Mathieu, Rémi;
    • Silvagnoli, Lucas;
    • Watrin, Françoise;
    • Cardoso, Carlos;
    • Manent, Jean‐Bernard;
    • de Chevigny, Antoine;
    • Represa, Alfonso
    Publication type:
    Article
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    Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

    Published in:
    2021
    By:
    • Thuy-Linh Le;
    • Galmiche, Louise;
    • Levy, Jonathan;
    • Suwannarat, Pim;
    • Hellebrekers, Debby M. E. I.;
    • Morarach, Khomgrit;
    • Boismoreau, Franck;
    • Theunissen, Tom E. J.;
    • Lefebvre, Mathilde;
    • Pelet, Anna;
    • Martinovic, Jelena;
    • Gelot, Antoinette;
    • Guimiot, Fabien;
    • Calleroz, Amanda;
    • Gitiaux, Cyril;
    • Hully, Marie;
    • Goulet, Olivier;
    • Chardot, Christophe;
    • Drunat, Severine;
    • Capri, Yline
    Publication type:
    journal article
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    In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

    Published in:
    Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
    By:
    • Alby, Caroline;
    • Boutaud, Lucile;
    • Bonnière, Maryse;
    • Collardeau-Frachon, Sophie;
    • Guibaud, Laurent;
    • Lopez, Estelle;
    • Bruel, Ange-Line;
    • Aral, Bernard;
    • Sonigo, Pascale;
    • Roth, Philippe;
    • Vibert-Guigue, Claude;
    • Castaigne, Vanina;
    • Carbonne, Bruno;
    • Joye, Nicole;
    • Faivre, Laurence;
    • Cordier, Marie-Pierre;
    • Gelot, Antoinette Bernabe;
    • Clementi, Maurizio;
    • Mammi, Isabella;
    • Vekemans, Michel
    Publication type:
    Article
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    Dominant form of vanishing white matter–like leukoencephalopathy.

    Published in:
    Annals of Neurology, 2005, v. 58, n. 4, p. 634
    By:
    • Pierre Labauge;
    • Anne Fogli;
    • Giovanni Castelnovo;
    • Alice Le Bayon;
    • Laetitia Horzinski;
    • François Nicoli;
    • Patrick Cozzone;
    • Michel Pagès;
    • Caroline Briere;
    • Christiane Marty‐Double;
    • Olivier Delhaume;
    • Antoinette Gelot;
    • Odile Boespflug‐Tanguy;
    • Diana Rodriguez
    Publication type:
    Article
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    In mice and humans, brain microvascular contractility matures postnatally.

    Published in:
    Brain Structure & Function, 2023, v. 228, n. 2, p. 475, doi. 10.1007/s00429-022-02592-w
    By:
    • Slaoui, Leila;
    • Gilbert, Alice;
    • Rancillac, Armelle;
    • Delaunay-Piednoir, Barbara;
    • Chagnot, Audrey;
    • Gerard, Quentin;
    • Letort, Gaëlle;
    • Mailly, Philippe;
    • Robil, Noémie;
    • Gelot, Antoinette;
    • Lefebvre, Mathilde;
    • Favier, Maryline;
    • Dias, Karine;
    • Jourdren, Laurent;
    • Federici, Laetitia;
    • Auvity, Sylvain;
    • Cisternino, Salvatore;
    • Vivien, Denis;
    • Cohen-Salmon, Martine;
    • Boulay, Anne-Cécile
    Publication type:
    Article
    20

    A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

    Published in:
    Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
    By:
    • Biancalana, Valérie;
    • Rendu, John;
    • Chaussenot, Annabelle;
    • Mecili, Helen;
    • Bieth, Eric;
    • Fradin, Mélanie;
    • Mercier, Sandra;
    • Michaud, Maud;
    • Nougues, Marie-Christine;
    • Pasquier, Laurent;
    • Sacconi, Sabrina;
    • Romero, Norma B.;
    • Marcorelles, Pascale;
    • Authier, François Jérôme;
    • Gelot Bernabe, Antoinette;
    • Uro-Coste, Emmanuelle;
    • Cances, Claude;
    • Isidor, Bertrand;
    • Magot, Armelle;
    • Minot-Myhie, Marie-Christine
    Publication type:
    Article
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    Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

    Published in:
    Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 303, doi. 10.1093/brain/awz377
    By:
    • Huin, Vincent;
    • Barbier, Mathieu;
    • Bottani, Armand;
    • Lobrinus, Johannes Alexander;
    • Clot, Fabienne;
    • Lamari, Foudil;
    • Chat, Laureen;
    • Rucheton, Benoît;
    • Fluchère, Frédérique;
    • Auvin, Stéphane;
    • Myers, Peter;
    • Gelot, Antoinette;
    • Camuzat, Agnès;
    • Caillaud, Catherine;
    • Jornéa, Ludmila;
    • Forlani, Sylvie;
    • Saracino, Dario;
    • Duyckaerts, Charles;
    • Brice, Alexis;
    • Durr, Alexandra
    Publication type:
    Article
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    WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

    Published in:
    2017
    By:
    • Cavallin, Mara;
    • Rujano, Maria A.;
    • Bednarek, Nathalie;
    • Medina-Cano, Daniel;
    • Bernabe Gelot, Antoinette;
    • Drunat, Severine;
    • Maillard, Camille;
    • Garfa-Traore, Meriem;
    • Bole, Christine;
    • Nitschké, Patrick;
    • Beneteau, Claire;
    • Besnard, Thomas;
    • Cogné, Benjamin;
    • Eveillard, Marion;
    • Kuster, Alice;
    • Poirier, Karine;
    • Verloes, Alain;
    • Martinovic, Jelena;
    • Bidat, Laurent;
    • Rio, Marlene
    Publication type:
    journal article
    25

    MFN2, a new gene responsible for mitochondrial DNA depletion.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
    By:
    • Renaldo, Florence;
    • Amati-Bonneau, Patrizia;
    • Slama, Abdelhamid;
    • Romana, Claudia;
    • Forin, Veronique;
    • Doummar, Diane;
    • Barnerias, Christine;
    • Bursztyn, Joseph;
    • Mayer, Michèle;
    • Khouri, Nejib;
    • Billette de Villemeur, Thierry;
    • Burglen, Lydie;
    • Reynier, Pascal;
    • Bernabe Gelot, Antoinette;
    • Rodriguez, Diana
    Publication type:
    Article
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    Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 22, p. 3755, doi. 10.1093/hmg/ddz194
    By:
    • Pelorosso, Cristiana;
    • Watrin, Françoise;
    • Conti, Valerio;
    • Buhler, Emmanuelle;
    • Gelot, Antoinette;
    • Yang, Xiaoxu;
    • Mei, Davide;
    • McEvoy-Venneri, Jennifer;
    • Manent, Jean-Bernard;
    • Cetica, Valentina;
    • Ball, Laurel L;
    • Buccoliero, Anna Maria;
    • Vinck, Antonin;
    • Barba, Carmen;
    • Gleeson, Joseph G;
    • Guerrini, Renzo;
    • Represa, Alfonso
    Publication type:
    Article
    28

    A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 5, p. 1004, doi. 10.1093/hmg/ddr531
    By:
    • Carabalona, Aurelie;
    • Beguin, Shirley;
    • Pallesi-Pocachard, Emilie;
    • Buhler, Emmanuelle;
    • Pellegrino, Christophe;
    • Arnaud, Karen;
    • Hubert, Philippe;
    • Oualha, Mehdi;
    • Siffroi, Jean Pierre;
    • Khantane, Sabrina;
    • Coupry, Isabelle;
    • Goizet, Cyril;
    • Gelot, Antoinette Bernabe;
    • Represa, Alfonso;
    • Cardoso, Carlos
    Publication type:
    Article
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