Resultats de la cerca - Annie Laquerrière

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  1. 1
    Giant epidermoid cyst of the occipital area with bone invasion: A case report

    Giant epidermoid cyst of the occipital area with bone invasion: A case report per Alorini, Mohammed, Vianney, Gilard, Florent, Marguet, Olivier, Langlois, Annie, Laquerrière

    Publicat 2018
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  2. 2
    Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

    Microangiopathy in primary familial brain calcification: Evidence from skin biopsies per Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin

    Publicat 2017
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  3. 3
    Diagnosis and Management of Glioblastoma: A Comprehensive Perspective

    Diagnosis and Management of Glioblastoma: A Comprehensive Perspective per Vianney Gilard, Abdellah Tebani, Ivana Dabaj, Annie Laquerrière, Maxime Fontanilles, Stéphane Derrey, Stéphane Marret, Soumeya Bekri

    Publicat 2021
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  4. 4
    Tubulin mutations in human neurodevelopmental disorders

    Tubulin mutations in human neurodevelopmental disorders per Camille Maillard, Charles Joris Roux, Fabienne Charbit‐Henrion, Julie Steffann, Annie Laquerrière, Floriane Quazza, Nadia Bahi Buisson

    Publicat 2022
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  5. 5
    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis per Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

    Publicat 2015
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  6. 6
    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure

    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure per Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J. Gonzalez

    Publicat 2017
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  7. 7
    Autophagosome maturation is impaired in Fabry disease

    Autophagosome maturation is impaired in Fabry disease per Marc Chévrier, Noureddine Brakch, Céline Lesueur, Damien Genty, Yasmina Ramdani, Solange Moll, Mojgan Djavaheri‐Mergny, Carole Brasse‐Lagnel, Annie Laquerrière, Frédéric Barbey, Soumeya Bekri

    Publicat 2010
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  8. 8
    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain

    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain per Sylvie Jégou, Faiza El Ghazi, Pamela Kwetieu de Lendeu, Stéphane Marret, Vincent Laudenbach, Arnaud Uguen, Pascale Marcorelles, Vincent Roy, Annie Laquerrière, Bruno J. Gonzalez

    Publicat 2012
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  9. 9
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases per Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    Publicat 2008
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  10. 10
    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene per Pascale Saugier‐Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière

    Publicat 2017
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  11. 11
    Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma

    Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma per Maxime Fontanilles, Florent Marguet, Ludivine Beaussire, Nicolas Magné, Louis‐Ferdinand Pépin, Cristina Alexandru, Isabelle Tennevet, C. Hanzen, Olivier Langlois, Fabrice Jardin, Annie Laquerrière, Nasrin Sarafan‐Vasseur, Frédéric Di Fiore, Florian Clatot

    Publicat 2020
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  12. 12
    Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease

    Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease per David M. A. Mann, Yvonne S. Davidson, Andrew Robinson, N.P. Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S. Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, V. P. Prasher, Takeshi Iwatsubo, André Strydom

    Publicat 2018
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  13. 13
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis per Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    Publicat 2016
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  14. 14
    Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma

    Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma per Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre‐Julien Viailly, Sydney Dubois, Philìppe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Leprêtre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin

    Publicat 2017
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  15. 15
    Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

    Amyloid precursor protein controls cholesterol turnover needed for neuronal activity per Nathalie Pierrot, Donatienne Tyteca, Ludovic D’Auria, Ilse Dewachter, Philippe Gailly, Aurélie Hendrickx, Bernadette Tasiaux, Laetitia El Haylani, Nathalie Muls, Francisca N’Kuli, Annie Laquerrière, Jean‐Baptiste Demoulin, Dominique Campion, Jean‐Pierre Brion, Pierre J. Courtoy, Pascal Kienlen‐Campard, Jean‐Noël Octave

    Publicat 2013
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  16. 16
    Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors

    Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors per Arnault Tauziède‐Espariat, Damien Bresson, Marc Polivka, S. Bouazza, François Labrousse, Eleonora Aronica, Jean‐Luc Prétet, Fabrice Projetti, Philippe Herman, Henri Salle, Franck Monnien, Séverine Valmary‐Degano, Annie Laquerrière, Marc Pocard, L. Chaigneau, Nicolás Isambert, Marie‐Hélène Aubriot‐Lorton, L. Feuvret, Bernard George, Sébastien Froelich, Homa Adle‐Biassette

    Publicat 2016
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  17. 17
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly per Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson

    Publicat 2014
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  18. 18
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly per Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta

    Publicat 2012
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  19. 19
    Progranulin null mutations in both sporadic and familial frontotemporal dementia

    Progranulin null mutations in both sporadic and familial frontotemporal dementia per Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck, Bruno Dubois, François Sellal, Lucette Lacomblez, Martine Vercelletto, Catherine Thomas-Antérion, Bernard‐François Michel, Véronique Golfier, Mira Didic, François Salachas, Charles Duyckaerts, Marc Cruts, Patrice Verpillat, Christine Van Broeckhoven, Alexis Brice

    Publicat 2007
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  20. 20
    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease per Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen

    Publicat 2018
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