檢索結果 - Laquerrière, Annie

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

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Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly 由 Friocourt, Gaëlle, Marcorelles, Pascale, Saugier-Veber, Pascale, Quille, Marie-Lise, Marret, Stephane, Laquerrière, Annie

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

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Restoration of diaphragmatic function after diaphragm reinnervation by inferior laryngeal nerve; experimental study in rabbits 由 Derrey, Stephane, verin, Eric, Laquerrière, Annie, de Barros, Angelique Boishardy, Lacoume, Yann, Fréger, Pierre, Marie, Jean Paul

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Plasma and Urinary Aluminum Concentrations in Severely Anemic Geophagous Pregnant Women in the Bas Maroni Region of French Guiana: A Case-Control Study 由 Lambert, Veronique, Boukhari, Rachida, Nacher, Mathieu, Goullé, Jean-Pierre, Roudier, Estelle, Elguindi, Wael, Laquerrière, Annie, Carles, Gabriel

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An Autopsy Case of Amyotrophic Lateral Sclerosis with Waldenström Macroglobulinemia and Anti-MAG Gammopathy 由 Jurici, Snejana, Laquerrière, Annie, Bedat-Millet, Anne-Laure, Jardin, Fabrice, Musset, Lucile, Vallat, Jean-Michel, Hannequin, Didier, Martinaud, Olivier

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Prenatal alcohol exposure is a leading cause of interneuronopathy in humans 由 Marguet, Florent, Friocourt, Gaëlle, Brosolo, Mélanie, Sauvestre, Fanny, Marcorelles, Pascale, Lesueur, Céline, Marret, Stéphane, Gonzalez, Bruno J., Laquerrière, Annie

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Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses 由 Marguet, Florent, Brosolo, Mélanie, Friocourt, Gaëlle, Sauvestre, Fanny, Marcorelles, Pascale, Lesueur, Céline, Marret, Stéphane, Gonzalez, Bruno J., Laquerrière, Annie

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

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Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series 由 Tebani, Abdellah, Zanoutene-Cheriet, Lahouaria, Adjtoutah, Zoubir, Abily-Donval, Lenaig, Brasse-Lagnel, Carole, Laquerrière, Annie, Marret, Stephane, Chalabi Benabdellah, Abla, Bekri, Soumeya

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Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants 由 Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale

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Prenatal alcohol exposure impairs autophagy in neonatal brain cortical microvessels 由 Girault, Virginie, Gilard, Vianney, Marguet, Florent, Lesueur, Céline, Hauchecorne, Michelle, Ramdani, Yasmina, Laquerrière, Annie, Marret, Stéphane, Jégou, Sylvie, Gonzalez, Bruno Jose, Brasse-Lagnel, Carole, Bekri, Soumeya

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De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes 由 Jaber, Dana, Gitiaux, Cyril, Blesson, Sophie, Marguet, Florent, Buard, David, Varela Salgado, Maritzaida, Kaminska, Anna, Saada, Julien, Fallet-Bianco, Catherine, Martinovic, Jelena, Laquerriere, Annie, Melki, Judith

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Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency 由 Lagoutte-Renosi, Jennifer, Ségalas-Milazzo, Isabelle, Crahes, Marie, Renosi, Florian, Menu-Bouaouiche, Laurence, Torre, Stéphanie, Lardennois, Caroline, Rio, Marlène, Marret, Stéphane, Brasse-Lagnel, Carole, Laquerrière, Annie, Bekri, Soumeya

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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination 由 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

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Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas 由 Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry

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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene 由 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

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Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor 由 Tauziède-Espariat, Arnault, Masliah-Planchon, Julien, Brugières, Laurence, Puget, Stéphanie, Dufour, Christelle, Schneider, Pascale, Laquerrière, Annie, Frebourg, Thierry, Bodet, Damien, Lechapt-Zalcman, Emmanuèle, Pierron, Gaëlle, Delattre, Olivier, Varlet, Pascale, Bourdeaut, Franck

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

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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 由 Mann, David M. A., Davidson, Yvonne S., Robinson, Andrew C., Allen, Nancy, Hashimoto, Tadafumi, Richardson, Anna, Jones, Matthew, Snowden, Julie S., Pendleton, Neil, Potier, Marie-Claude, Laquerrière, Annie, Prasher, Vee, Iwatsubo, Takeshi, Strydom, Andre

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