Search Results - "Portes, Vincent Des"

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials by Berry-Kravis, Elizabeth, Des Portes, Vincent, Hagerman, Randi, Jacquemont, Sébastien, Charles, Perrine, Visootsak, Jeannie, Brinkman, Marc, Rerat, Karin, Koumaras, Barbara, Zhu, Liansheng, Barth, Gottfried Maria, Jaecklin, Thomas, Apostol, George, von Raison, Florian

“…Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional…”
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PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1 by Yoh, Sunnie M., Schneider, Monika, Seifried, Janna, Soonthornvacharin, Stephen, Akleh, Rana E., Olivieri, Kevin C., De Jesus, Paul D., Ruan, Chunhai, de Castro, Elisa, Ruiz, Pedro A., Germanaud, David, des Portes, Vincent, García-Sastre, Adolfo, König, Renate, Chanda, Sumit K.

“…Dendritic cells (DCs) play a critical role in the immune response to viral infection through the facilitation of cell-intrinsic antiviral activity and the…”
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The challenges of clinical trials in fragile X syndrome by Jacquemont, Sébastien, Berry-Kravis, Elizabeth, Hagerman, Randi, von Raison, Florian, Gasparini, Fabrizio, Apostol, George, Ufer, Mike, Des Portes, Vincent, Gomez-Mancilla, Baltazar

“…Rationale Advances in understanding the underlying mechanisms of conditions such as fragile X syndrome (FXS) and autism spectrum disorders have revealed…”
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Neural correlates of non-verbal social interactions: A dual-EEG study by Ménoret, Mathilde, Varnet, Léo, Fargier, Raphaël, Cheylus, Anne, Curie, Aurore, des Portes, Vincent, Nazir, Tatjana A., Paulignan, Yves

“…Successful non-verbal social interaction between human beings requires dynamic and efficient encoding of others′ gestures. Our study aimed at identifying…”
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The French Version of the DABS: Adaptation Process and Preliminary Field Test by von Rotz, Lorna, Courbois, Yannick, Des Portes, Vincent, Lacroix, Agnès, Reymond, Marie-Pierre, Tassé, Marc J, Touil, Nathalie, Tsao, Raphaele, Straccia, Claudio

“…The aim of this study was to develop a transcultural adaptation of the Diagnostic Adaptive Behavior Scale (DABS) in French and to perform a field evaluation of…”
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype by Nguyen, Toan, Heide, Solveig, Guilbaud, Lucie, Valence, Stéphanie, Perre, Saskia Vande, Blondiaux, Eléonore, Keren, Boris, Quenum‐Miraillet, Geneviève, Jouannic, Jean‐Marie, Mandelbrot, Laurent, Picone, Olivier, Guet, Agnès, Tsatsaris, Vassilis, Milh, Mathieu, Girard, Nadine, Vincent, Marie, Nizon, Mathilde, Poirsier, Céline, Vivanti, Alexandre, Benachi, Alexandra, Portes, Vincent des, Guibaud, Laurent, Patat, Olivier, Spentchian, Myrtille, Frugère, Lisa, Héron, Delphine, Garel, Catherine

“…Objective Recent studies have evaluated prenatal exome sequencing (pES) for abnormalities of the corpus callosum (CC). The objective of this study was to…”
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Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis by Curie, Aurore, Yang, Kathy, Kirsch, Irving, Gollub, Randy L, des Portes, Vincent, Kaptchuk, Ted J, Jensen, Karin B

“…Genetically determined Intellectual Disability (ID) is an intractable condition that involves severe impairment of mental abilities such as learning, reasoning…”
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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome by Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Des Portes, Vincent, Edery, Patrick, Demily, Caroline

“…Smith-Magenis syndrome is a complex neurodevelopmental disorder that includes intellectual deficiency, speech delay, behavioral disturbance and typical sleep…”
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient by Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, de Villemeur, Thierry Billette, Rodriguez, Diana

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and…”
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Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects by Vaurs-Barrière, Catherine, Deville, Marlène, Sarret, Catherine, Giraud, Geneviève, Des Portes, Vincent, Prats-Viñas, José-Maria, De Michele, Giuseppe, Dan, Bernard, Brady, Angela F., Boespflug-Tanguy, Odile, Touraine, Renaud

“…Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 in 11% of 53…”
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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism by Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

“…We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and…”
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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome by Portes, Vincent des, Pinard, Jean Marc, Billuart, Pierre, Vinet, Marie Claude, Koulakoff, Annette, Carrié, Alain, Gelot, Antoinette, Dupuis, Elisabeth, Motte, Jacques, Berwald-Netter, Yoheved, Catala, Martin, Kahn, Axel, Beldjord, Cherif, Chelly, Jamel

“…X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band…”
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MECP2 is highly mutated in X-linked mental retardation by COUVERT, Philippe, BIENVENU, Thierry, STEFFANN, Julie, DES PORTES, Vincent, ROPERS, Hans-Hilger, YNTEMA, Helger G, FRYNS, Jean-Pierre, BRIAULT, Sylvain, CHELLY, Jamel, CHERIF, Beldjord, AQUAVIVA, Cecile, POIRIER, Karine, MORA, Claude, GENDROT, Chantal, VERLOES, Alain, ANDRES, Christian, LE FEVRE, Anne Celine, SOUVILLE, Isabelle

“…Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of…”
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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation by Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hugues Roest, Carrié, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylvain, Hamel, Ben, Fryns, Jean-Pierre, Beldjord, Cherif, Kahn, Axel, Moraine, Claude, Chelly, Jamel

“…Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or…”
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Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly by Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel

“…Jamel Chelly, Nicholas Cowan and colleagues report mutations in TUBG1 , DYNC1H1 , KIF2A and KIF5C in individuals with malformations of cortical development and…”
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation by Friocourt, Gaelle, Carrié, Alain, Chafey, Philippe, Brandau, Oliver, Fryns, Jean P, Frints, Suzanna, Ropers, Hans H, Billuart, Pierre, McDonell, Nathalie, Vinet, Marie C, Portes, Vincent des, Cardona, Anna, Moraine, Claude, Fauchereau, Fabien, Couvert, Philippe, Meindl, Alfonse, Ronce, Nathalie, Chelly, Jamel, Beldjord, Cherif, Bokhoven, Han van, Zemni, Ramzi, Sudbrak, Ralf, Francis, Fiona, Sefiani, Aziz, Bienvenu, Thierry, Kahn, Axel

“…X-linked forms of mental retardation (MR) affect approximately 1 in 600 males and are likely to be highly heterogeneous. They can be categorized into syndromic…”
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Fetal and perinatal outcome associated with small cerebellar diameter based on second‐ or third‐trimester ultrasonography by Atallah, Anthony, Guibaud, Laurent, Gaucherand, Pascal, Massardier, Jerome, des Portes, Vincent, Massoud, Mona

“…Objective To examine the outcome of pregnancy with fetal transverse cerebellar diameter (TCD) below the fifth percentile based on routine second‐ or…”
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Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study by Lagarde, Stanislas, Villeneuve, Nathalie, Trébuchon, Agnès, Kaphan, Elsa, Lepine, Anne, McGonigal, Aileen, Roubertie, Agathe, Barthez, Marie‐Anne J., Trommsdorff, Valérie, Lefranc, Jérémie, Wehbi, Samer, Portes, Vincent, Laguitton, Virginie, Quartier, Pierre, Scavarda, Didier, Giusiano, Bernard, Milh, Mathieu, Bulteau, Christine, Bartolomei, Fabrice

“…Summary Objective Rasmussen's encephalitis (RE) is a severe chronic inflammatory brain disease affecting one cerebral hemisphere and leading to drug‐resistant…”
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Further characterisation of ARX -related disorders in females due to inherited or de novo variants by Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine

“…The Aristaless-related homeobox ( ) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the…”
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GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms by Ragnarsson, Lotten, Zhang, Zihan, Das, Sooraj S., Tran, Poanna, Andersson, Åsa, Portes, Vincent, Desmettre Altuzarra, Cecilia, Remerand, Ganaelle, Labalme, Audrey, Chatron, Nicolas, Sanlaville, Damien, Lesca, Gaetan, Anggono, Victor, Vetter, Irina, Keramidas, Angelo

“…Objective N‐methyl‐d‐aspartate (NMDA) receptors are expressed at synaptic sites, where they mediate fast excitatory neurotransmission. NMDA receptors are…”
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