Resultados de procura - Villard, Laurent

MECP2 mutations in males por Villard, Laurent

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Rett syndrome: think outside the (skull) box por Borloz, Emilie, Villard, Laurent, Roux, Jean-Christophe

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Biogenic amines and their metabolites are differentially affected in the Mecp2-deficient mouse brain por Panayotis, Nicolas, Ghata, Adeline, Villard, Laurent, Roux, Jean-Christophe

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Rett syndrome from bench to bedside: recent advances por Ehinger, Yann, Matagne, Valerie, Villard, Laurent, Roux, Jean-Christophe

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Metabolic Fingerprints of Altered Brain Growth, Osmoregulation and Neurotransmission in a Rett Syndrome Model por Viola, Angèle, Saywell, Véronique, Villard, Laurent, Cozzone, Patrick J., Lutz, Norbert W.

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Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient por Abidi, Affef, Mignon-Ravix, Cécile, Cacciagli, Pierre, Girard, Nadine, Milh, Mathieu, Villard, Laurent

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The M-current works in tandem with the persistent sodium current to set the speed of locomotion por Verneuil, Jérémy, Brocard, Cécile, Trouplin, Virginie, Villard, Laurent, Peyronnet-Roux, Julie, Brocard, Frédéric

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GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice por El-Khoury, Rita, Panayotis, Nicolas, Matagne, Valérie, Ghata, Adeline, Villard, Laurent, Roux, Jean-Christophe

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Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria por El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent

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A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand... por Jdila, Marwa Ben, Mignon-Ravix, Cécile, Ncir, Sihem Ben, Kammoun, Fatma, Fakhfakh, Faiza, Villard, Laurent, Triki, Chahnez

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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability por Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane

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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype por Cacciagli, Pierre, Haddad, Marie-Reine, Mignon-Ravix, Cécile, El-Waly, Bilal, Moncla, Anne, Missirian, Chantal, Chabrol, Brigitte, Villard, Laurent

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Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome por Ehinger, Yann, Matagne, Valerie, Cunin, Valérie, Borloz, Emilie, Seve, Michel, Bourgoin-Voillard, Sandrine, Borges-Correia, Ana, Villard, Laurent, Roux, Jean-Christophe

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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) por Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, Delepine, Marc, Zelenika, Diana, Lathrop, Mark, Lévy, Nicolas, Ledbetter, David H, Dobyns, William B, Villard, Laurent

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Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice por Felix, Marie-Solenne, Borloz, Emilie, Metwally, Khaled, Dauba, Ambre, Larrat, Benoit, Matagne, Valerie, Ehinger, Yann, Villard, Laurent, Novell, Anthony, Mensah, Serge, Roux, Jean-Christophe

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Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice por Ehinger, Yann, Bruyère, Julie, Panayotis, Nicolas, Abada, Yah‐Se, Borloz, Emilie, Matagne, Valérie, Scaramuzzino, Chiara, Vitet, Hélène, Delatour, Benoit, Saidi, Lydia, Villard, Laurent, Saudou, Frédéric, Roux, Jean‐Christophe

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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients por Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane

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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28 por Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, Grix, Arthur W., Graham, Jr., John M., Winter, Robin M., Leventer, Richard J., Dobyns, William B.

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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability por Mortreux, Jérémie, Busa, Tiffany, Germain, Dominique P., Nadeau, Gwenaël, Puechberty, Jacques, Coubes, Christine, Gatinois, Vincent, Cacciagli, Pierre, Duffourd, Yannis, Pinard, Jean-Marc, Tevissen, Hélène, Villard, Laurent, Sanlaville, Damien, Philip, Nicole, Missirian, Chantal

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A knock‐in mouse model for KCNQ2‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment por Milh, Mathieu, Roubertoux, Pierre, Biba, Najoua, Chavany, Julie, Spiga Ghata, Adeline, Fulachier, Camille, Collins, Stephan Christopher, Wagner, Christel, Roux, Jean‐Christophe, Yalcin, Binnaz, Félix, Marie‐Solenne, Molinari, Florence, Lenck‐Santini, Pierre‐Pascal, Villard, Laurent

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