检索结果 - Laurent Villard

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  1. 1
    MECP2 mutations in males

    MECP2 mutations in males 由 Laurent Villard

    出版 2007
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    Revisão
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  2. 2
    Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

    Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome) 由 Richard J. Gibbons, David J. Picketts, Laurent Villard, Douglas R. Higgs

    出版 1995
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    Artigo
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  3. 3
    The M-current works in tandem with the persistent sodium current to set the speed of locomotion

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

    出版 2020
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  4. 4
    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

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

    出版 2015
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  5. 5
    Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome

    Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome 由 Valérie Matagne, Emilie Borloz, Yann Ehinger, Lydia Saidi, Laurent Villard, Jean‐Christophe Roux

    出版 2020
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  6. 6
    GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice

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

    出版 2014
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    Artigo
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  7. 7
    Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

    Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia 由 N. Philip, B. Chabrol, Anne-Marie Lossi, Carlos Cardoso, Renzo Guerrini, William B. Dobyns, Charles Raybaud, Laurent Villard

    出版 2003
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    Carta
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  8. 8
    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability 由 Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery

    出版 2015
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  9. 9
    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity

    A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity 由 Jérôme Devaux, Affef Abidi, Agathe Roubertie, Florence Molinari, Hélène Becq, Caroline Lacoste, Laurent Villard, Mathieu Milh, Laurent Aniksztejn

    出版 2016
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    Artigo
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  10. 10
    A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

    A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome 由 Valérie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean‐Christophe Roux

    出版 2016
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  11. 11
    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

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

    出版 2010
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    Artigo
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  12. 12
    AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

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

    出版 2013
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    Artigo
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  13. 13
    Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy

    Novel Compound Heterozygous Mutations in<i>TBC</i><i>1</i><i>D</i><i>24</i>Cause Familial Malignant Migrating Partial Seizures of Infancy 由 Mathieu Milh, Antonio Falace, Nathalie Villeneuve, Nicola Vanni, Pierre Cacciagli, Stefania Assereto, Rima Nabbout, Fabio Benfenati, Federico Zara, B. Chabrol, Laurent Villard, Anna Fassio

    出版 2013
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  14. 14
    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype 由 Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

    出版 2007
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  15. 15
    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations

    Variable clinical expression in patients with mosaicism for <i>KCNQ2</i> mutations 由 Mathieu Milh, Caroline Lacoste, Pierre Cacciagli, Affef Abidi, Julie Sutera-Sardo, Ilias Tzelepis, Estelle Colin, Catherine Badens, Alexandra Afenjar, Anne Dieux Coeslier, Thomas Dailland, Gaëtan Lesca, Nicole Philip, Laurent Villard

    出版 2015
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  16. 16
    A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

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

    出版 2002
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  17. 17
    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations 由 Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminśka, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli, Cécile Mignon‐Ravix, Hélène Cuberos, B. Chabrol, Laurent Villard

    出版 2011
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  18. 18
    Poor Association Between Clinical Characteristics and Seropositivity in Children With Suspected Long <scp>COVID</scp>—A Single‐Centre Study

    Poor Association Between Clinical Characteristics and Seropositivity in Children With Suspected Long <scp>COVID</scp>—A Single‐Centre Study 由 Selma Olsson‐Åkefeldt, Joachim Luthander, Lena Anmyr, Laurent Villard, Sigurður Árnason, Mike K. Kemani, E. I. Wallgren, Sara Rostlund, M. Tingborn, M. Pettersson, Eric M. George, Malin Ryd Rinder, Olof Hertting

    出版 2025
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  19. 19
    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

    Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus 由 Pierre Cacciagli, Julie Sutera-Sardo, Ana Borges-Correia, Jean‐Christophe Roux, Imen Dorboz, Jean-Pierre Desvignes, Catherine Badens, Marc Delépine, Mark Lathrop, Pierre Cau, Nicolas Lévy, Nadine Girard, Pierre Sarda, Odile Boespflug‐Tanguy, Laurent Villard

    出版 2013
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  20. 20
    Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

    Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice 由 Jean‐Charles Viemari, Jean‐Christophe Roux, Andrew K. Tryba, Véronique Saywell, H. Burnet, Fernando Peña‐Ortega, Sébastien Zanella, Michelle Bévengut, Magali Barthélémy-Requin, Laura B. K. Herzing, Anne Moncla, Josette Mancini, Jan‐Marino Ramirez, Laurent Villard, Gérard Hilaire

    出版 2005
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