Ohcanbohtosat - Vincent des Portes

Aiddostahte ozu
  1. 1
    Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

    Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis Dahkki Aurore Curie, Kathy Yang, Irving Kirsch, Randy L. Gollub, Vincent des Portes, Ted J. Kaptchuk, Karin B. Jensen

    Almmustuhtton 2015
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  2. 2
    Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with <i><scp>SLC</scp>16A2</i> mutations

    Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with <i><scp>SLC</scp>16A2</i> mutations Dahkki Ganaëlle Remérand, Odile Boespflug‐Tanguy, Davide Tonduti, Renaud Touraine, Diana Rodriguez, Aurore Curie, Nathalie Perreton, Vincent des Portes, Catherine Sarret

    Almmustuhtton 2019
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  3. 3
    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome Dahkki Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène De Leersnyder, Patricia Franco, Vincent des Portes, Patrick Edery, Caroline Demily

    Almmustuhtton 2015
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  4. 4
    The challenges of clinical trials in fragile X syndrome

    The challenges of clinical trials in fragile X syndrome Dahkki Sébastien Jacquemont, Elizabeth Berry‐Kravis, Randi J. Hagerman, Florian von Raison, F. Gasparini, George Apostol, Mike Ufer, Vincent des Portes, Baltazar Gomez‐Mancilla

    Almmustuhtton 2013
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  5. 5
    Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents

    Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents Dahkki Randi Hagerman, Sébastien Jacquemont, Elizabeth Berry‐Kravis, Vincent des Portes, Andrew C. Stanfield, Barbara Koumaras, G. Rosenkranz, Alessandra Murgia, Christian Wolf, George Apostol, Florian von Raison

    Almmustuhtton 2018
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  6. 6
    The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial

    The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial Dahkki Laurence Lion‐François, François Gueyffier, Catherine Mercier, Daniel Gérard, Vania Herbillon, Isabelle Kemlin, Diana Rodriguez, Tiphanie Ginhoux, Emeline Peyric, Virginie Coutinho, Valentine Bréant, Vincent des Portes, S. Pinson, P. Combemale, Behrouz Kassaï

    Almmustuhtton 2014
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  7. 7
    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome Dahkki Vincent des Portes, Jean Marc Pinard, Pierre Billuart, Marie Claude Vinet, Annette Koulakoff, Alain Carrié, A. Gélot, Elisabeth Dupuis, Jacques Motté, Yoheved Berwald‐Netter, Martin Catala, Axel Kahn, Chérif Beldjord, Jamel Chelly

    Almmustuhtton 1998
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  8. 8
    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study

    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study Dahkki Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie‐Pierre Cordier, P. Gaucherand, J. Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud

    Almmustuhtton 2017
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  9. 9
    Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates

    Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates Dahkki Sébastien Jacquemont, Randi J. Hagerman, Maureen A. Leehey, Jim Grigsby, Lin Zhang, James A. Brunberg, Claudia Greco, Vincent des Portes, Tristan Jardini, Richard A. Levine, Elizabeth Berry‐Kravis, W. Ted Brown, S. Schaeffer, John T. Kissel, Flora Tassone, Paul J. Hagerman

    Almmustuhtton 2003
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  10. 10
    PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1

    PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1 Dahkki Sunnie M. Yoh, Monika Schneider, Janna Seifried, Stephen Soonthornvacharin, Rana Elias Akleh, Kevin C. Olivieri, Paul D. De Jesus, Chunhai Ruan, Elisa de Castro, Pedro A. Ruiz, David Germanaud, Vincent des Portes, Adolfo García‐Sastre, Renate König, Sumit K. Chanda

    Almmustuhtton 2015
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  11. 11
    Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

    Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation Dahkki Kristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, Martin B. Delatycki, Vincent des Portes, Bettina A. Moser, Ben C.J. Hamel, Hans van Bokhoven, Claude Moraine, Jean‐Pierre Fryns, Jamel Chelly, Jozef Gécz, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers

    Almmustuhtton 2004
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  12. 12
    Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study

    Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study Dahkki Stanislas Lagarde, Nathalie Villeneuve, Agnès Trébuchon, Elsa Kaphan, Anne Lépine, Aileen McGonigal, Agathe Roubertie, Marie‐Anne J. Barthez, Valérie Trommsdorff, Jérémie Lefranc, Samer Wehbi, Vincent des Portes, Virginie Laguitton, Pierre Quartier, Didier Scavarda, Bernard Giusiano, Mathieu Milh, Christine Bulteau, Fabrice Bartoloméi

    Almmustuhtton 2016
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  13. 13
    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex Dahkki Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert, Catherine Fallet‐Bianco, Nicola Specchio, Enrico Bertini, Ahmet Okay Çağlayan, Karine Lascelles, Caroline Elie, Jérôme Rambaud, Michel Baulac, Isabelle An, Patrícia Dias, Vincent des Portes, Marie Laure Moutard, Christine Soufflet, Monique El Maleh, Chérif Beldjord, Laurent Villard, Jamel Chelly

    Almmustuhtton 2010
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  14. 14
    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

    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 Dahkki Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Almmustuhtton 2012
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  15. 15
    Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

    Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome Dahkki Elizabeth Berry‐Kravis, Lothar Lindemann, Aia Elise Jønch, George Apostol, Mark F. Bear, Randall L. Carpenter, Jacqueline N. Crawley, Aurore Curie, Vincent des Portes, Farah Hossain, F. Gasparini, Baltazar Gomez‐Mancilla, David Hessl, Eva Loth, Sebastian H. Scharf, Paul P. Wang, Florian von Raison, Randi J. Hagerman, Will Spooren, Sébastien Jacquemont

    Almmustuhtton 2017
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  16. 16
    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP Dahkki Mathieu Kuchenbuch, Giulia Barcia, Nicole Chémaly, Emilie Carme, Agathe Roubertie, Marc Gibaud, Patrick Van Bogaert, Anne de Saint Martin, Édouard Hirsch, Fanny Dubois, Catherine Sarret, Sylvie Nguyen The Tich, Cécile Laroche, Vincent des Portes, Thierry Billette de Villemeur, Marie-Anne Barthez, Stéphane Auvin, Nadia Bahi‐Buisson, Isabelle Desguerre, Anna Kaminśka, Pascal Benquet, Rima Nabbout

    Almmustuhtton 2019
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  17. 17
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly Dahkki Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    Almmustuhtton 2009
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  18. 18
    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression Dahkki Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Macville, Kees van Roozendaal, C T R M Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean‐Pierre Fryns, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gécz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas W. Kuß

    Almmustuhtton 2008
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  19. 19
    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

    CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients Dahkki Marie Le Roux, Magalie Barth, Sophie Guéden, Patrick Desbordes de Cepoy, Alec Aeby, Catheline Vilain, Édouard Hirsch, Anne de Saint Martin, Vincent des Portes, Gaëtan Lesca, Audrey Riquet, Laurence Chaton, Nathalie Villeneuve, Laurent Villard, Claude Cancès, Luc Valton, Florence Renaldo, Anne‐Isabelle Vermersch, Cécilia Altuzarra, Marie-Ange Nguyen-Morel, Julien Van‐Gils, Chloé Angelini, Arnaud Biraben, Lionel Arnaud, Florence Riant, Patrick Van Bogaert

    Almmustuhtton 2021
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  20. 20
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Dahkki Angélique Quartier, Hélène Poquet, Brigitte Gilbert‐Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thévenon, Anne‐Laure Mosca‐Boidron, Patrick Callier, Jean Muller, Gaëtan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoît Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean‐Louis Mandel, Laurence Faivre, Amélie Piton

    Almmustuhtton 2017
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