Works by Marguet, Florent


Results: 33
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    SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 757, doi. 10.1111/cge.14608
    By:
    • Malbos, Marlène;
    • Vera, Gabriella;
    • Sheth, Harsh;
    • Schnur, Rhonda E.;
    • Juven, Aurélien;
    • Brehin, Anne‐Claire;
    • Sheth, Jayesh;
    • Gandhi, Ajit;
    • Shapiro, Faye L.;
    • Bruel, Ange‐Line;
    • Marguet, Florent;
    • Begtrup, Amber;
    • Monaghan, Kristin G.;
    • Safraou, Hana;
    • Brasseur‐Daudruy, Marie;
    • Mau‐Them, Frédéric Tran;
    • Duffourd, Yannis;
    • Faivre, Laurence;
    • Thauvin‐Robinet, Christel;
    • Benke, Paul J.
    Publication type:
    Article
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    Prenatal Alcohol Exposure Impairs the Placenta–Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13484, doi. 10.3390/ijms241713484
    By:
    • Sautreuil, Camille;
    • Lecointre, Maryline;
    • Derambure, Céline;
    • Brasse-Lagnel, Carole;
    • Leroux, Philippe;
    • Laquerrière, Annie;
    • Nicolas, Gaël;
    • Gil, Sophie;
    • Savage, Daniel D.;
    • Marret, Stéphane;
    • Marguet, Florent;
    • Falluel-Morel, Anthony;
    • Gonzalez, Bruno J.
    Publication type:
    Article
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    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Published in:
    Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0438-4
    By:
    • Saugier-Veber, Pascale;
    • Marguet, Florent;
    • Lecoquierre, François;
    • Adle-Biassette, Homa;
    • Guimiot, Fabien;
    • Cipriani, Sara;
    • Patrier, Sophie;
    • Brasseur-Daudruy, Marie;
    • Goldenberg, Alice;
    • Layet, Valérie;
    • Capri, Yline;
    • Gérard, Marion;
    • Frébourg, Thierry;
    • Laquerrière, Annie
    Publication type:
    Article
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    Glioneuronal tumors PATZ1-fused: clinico-molecular and DNA methylation signatures for a variety of morphological and radiological profiles.

    Published in:
    Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-02037-5
    By:
    • Tauziède-Espariat, Arnault;
    • Dangouloff-Ros, Volodia;
    • Sievers, Philipp;
    • Duchesne, Mathilde;
    • Siegfried, Aurore;
    • Nicaise, Yvan;
    • Boddaert, Nathalie;
    • Hasty, Lauren;
    • Métais, Alice;
    • Ngo, Carine;
    • le Loarer, François;
    • Bouvier, Corinne;
    • Fontaine, Alix;
    • Rousseau, Audrey;
    • Marguet, Florent;
    • Beccaria, Kévin;
    • Blauwblomme, Thomas;
    • Uro-Coste, Emmanuelle;
    • Varlet, Pascale
    Publication type:
    Article
    11

    Metabolic remodeling in glioblastoma: a longitudinal multi-omics study.

    Published in:
    Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01861-5
    By:
    • Fontanilles, Maxime;
    • Heisbourg, Jean-David;
    • Daban, Arthur;
    • Di Fiore, Frederic;
    • Pépin, Louis-Ferdinand;
    • Marguet, Florent;
    • Langlois, Olivier;
    • Alexandru, Cristina;
    • Tennevet, Isabelle;
    • Ducatez, Franklin;
    • Pilon, Carine;
    • Plichet, Thomas;
    • Mokbel, Déborah;
    • Lesueur, Céline;
    • Bekri, Soumeya;
    • Tebani, Abdellah
    Publication type:
    Article
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    Pyridoxine-dependent epilepsy: report on three families with neuropathology.

    Published in:
    Metabolic Brain Disease, 2016, v. 31, n. 6, p. 1435, doi. 10.1007/s11011-016-9869-z
    By:
    • Marguet, Florent;
    • Barakizou, Hager;
    • Tebani, Abdellah;
    • Abily-Donval, Lenaig;
    • Torre, Stéphanie;
    • Bayoudh, Fethi;
    • Jebnoun, Sami;
    • Brasseur-Daudruy, Marie;
    • Marret, Stéphane;
    • Laquerriere, Annie;
    • Bekri, Soumeya
    Publication type:
    Article
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    Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.

    Published in:
    Acta Neuropathologica, 2023, v. 146, n. 6, p. 833, doi. 10.1007/s00401-023-02635-4
    By:
    • Boetto, Julien;
    • Plu, Isabelle;
    • Ducos, Yohan;
    • Blouin, Antoine;
    • Teranishi, Yu;
    • Letournel, Franck;
    • Martin-Négrier, Marie-Laure;
    • Faisant, Maxime;
    • Godfraind, Catherine;
    • Maurage, Claude-Alain;
    • Deramecourt, Vincent;
    • Duchesne, Mathilde;
    • Meyronnet, David;
    • Delteil, Clémence;
    • Rigau, Valérie;
    • Vandenbos-Burel, Fanny;
    • Seilhean, Danielle;
    • Boluda, Susana;
    • Chiforeanu, Dan Christian;
    • Marguet, Florent
    Publication type:
    Article
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    A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics.

    Published in:
    Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01314-x
    By:
    • Nicolas, Gaël;
    • Sévigny, Myriam;
    • Lecoquierre, François;
    • Marguet, Florent;
    • Deschênes, Andréanne;
    • del Pelaez, Maria Carment;
    • Feuillette, Sébastien;
    • Audebrand, Anaïs;
    • Lecourtois, Magalie;
    • Rousseau, Stéphane;
    • Richard, Anne-Claire;
    • Cassinari, Kévin;
    • Deramecourt, Vincent;
    • Duyckaerts, Charles;
    • Boland, Anne;
    • Deleuze, Jean-François;
    • Meyer, Vincent;
    • Clarimon Echavarria, Jordi;
    • Gelpi, Ellen;
    • Akiyama, Haruhiko
    Publication type:
    Article
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    Integrative Metabolomics Reveals Deep Tissue and Systemic Metabolic Remodeling in Glioblastoma.

    Published in:
    Cancers, 2021, v. 13, n. 20, p. 5157, doi. 10.3390/cancers13205157
    By:
    • Gilard, Vianney;
    • Ferey, Justine;
    • Marguet, Florent;
    • Fontanilles, Maxime;
    • Ducatez, Franklin;
    • Pilon, Carine;
    • Lesueur, Céline;
    • Pereira, Tony;
    • Basset, Carole;
    • Schmitz-Afonso, Isabelle;
    • Di Fioré, Frédéric;
    • Laquerrière, Annie;
    • Afonso, Carlos;
    • Derrey, Stéphane;
    • Marret, Stéphane;
    • Bekri, Soumeya;
    • Tebani, Abdellah
    Publication type:
    Article
    24

    Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2522, doi. 10.1002/ajmg.a.38342
    By:
    • Touraine, Renaud;
    • Laquerrière, Annie;
    • Petcu, Carmen‐Adina;
    • Marguet, Florent;
    • Byrne, Susan;
    • Mein, Rachael;
    • Yau, Shu;
    • Mohammed, Shehla;
    • Guibaud, Laurent;
    • Gautel, Mathias;
    • Jungbluth, Heinz
    Publication type:
    Article
    25

    Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1317, doi. 10.1002/ajmg.a.37577
    By:
    • Marguet, Florent;
    • Laquerrière, Annie;
    • Goldenberg, Alice;
    • Guerrot, Anne‐Marie;
    • Quenez, Olivier;
    • Flahaut, Philippe;
    • Vanhulle, Catherine;
    • Dumant‐Forest, Clémentine;
    • Charbonnier, Françoise;
    • Vezain, Myriam;
    • Bekri, Soumeya;
    • Tournier, Isabelle;
    • Frébourg, Thierry;
    • Nicolas, Gaël
    Publication type:
    Article
    26

    Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81090-1
    By:
    • Dabaj, Ivana;
    • Ferey, Justine;
    • Marguet, Florent;
    • Gilard, Vianney;
    • Basset, Carole;
    • Bahri, Youssef;
    • Brehin, Anne-Claire;
    • Vanhulle, Catherine;
    • Leturcq, France;
    • Marret, Stéphane;
    • Laquerrière, Annie;
    • Schmitz-Afonso, Isabelle;
    • Afonso, Carlos;
    • Bekri, Soumeya;
    • Tebani, Abdellah
    Publication type:
    Article
    27

    Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01057-7
    By:
    • Fontanilles, Maxime;
    • Marguet, Florent;
    • Beaussire, Ludivine;
    • Magne, Nicolas;
    • Pépin, Louis-Ferdinand;
    • Alexandru, Cristina;
    • Tennevet, Isabelle;
    • Hanzen, Chantal;
    • Langlois, Olivier;
    • Jardin, Fabrice;
    • Laquerrière, Annie;
    • Sarafan-Vasseur, Nasrin;
    • Di Fiore, Fréderic;
    • Clatot, Florian
    Publication type:
    Article
    28

    Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00917-6
    By:
    • Fontanilles, Maxime;
    • Marguet, Florent;
    • Ruminy, Philippe;
    • Basset, Carole;
    • Noel, Adrien;
    • Beaussire, Ludivine;
    • Viennot, Mathieu;
    • Viailly, Pierre-Julien;
    • Cassinari, Kevin;
    • Chambon, Pascal;
    • Richard, Doriane;
    • Alexandru, Cristina;
    • Tennevet, Isabelle;
    • Langlois, Olivier;
    • Di Fiore, Frédéric;
    • Laquerrière, Annie;
    • Clatot, Florian;
    • Sarafan-Vasseur, Nasrin
    Publication type:
    Article
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    Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00929-2
    By:
    • Trimouille, Aurélien;
    • Marguet, Florent;
    • Sauvestre, Fanny;
    • Lasseaux, Eulalie;
    • Pelluard, Fanny;
    • Martin-Négrier, Marie-Laure;
    • Plaisant, Claudio;
    • Rooryck, Caroline;
    • Lacombe, Didier;
    • Arveiler, Benoît;
    • Boespflug-Tanguy, Odile;
    • Naudion, Sophie;
    • Laquerrière, Annie
    Publication type:
    Article
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    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 12, p. 1632, doi. 10.1016/j.jalz.2018.06.3056
    By:
    • Nicolas, Gaël;
    • Acuña‐Hidalgo, Rocío;
    • Keogh, Michael J.;
    • Quenez, Olivier;
    • Steehouwer, Marloes;
    • Lelieveld, Stefan;
    • Rousseau, Stéphane;
    • Richard, Anne‐Claire;
    • Oud, Manon S.;
    • Marguet, Florent;
    • Laquerrière, Annie;
    • Morris, Chris M.;
    • Attems, Johannes;
    • Smith, Colin;
    • Ansorge, Olaf;
    • Al Sarraj, Safa;
    • Frebourg, Thierry;
    • Campion, Dominique;
    • Hannequin, Didier;
    • Wallon, David
    Publication type:
    Article
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