Publications scientifiques

Publications

• 2019

  • GRIN2A-related disorders: genotype and functional consequence predict phenotype

    • Vincent Strehlow
    • Henrike O Heyne
    • Danique R M Vlaskamp
    • Katie F M Marwick
    • Gabrielle Rudolf
    • Julitta de Bellescize
    • Saskia Biskup
    • Eva H Brilstra
    • Oebele F Brouwer
    • Petra M C Callenbach
    • Julia Hentschel
    • Edouard Hirsch
    • Peter C Kind
    • Cyril Mignot
    • Konrad Platzer
    • Partick Rump
    • Paul A Skehel
    • David J A Wyllie
    • Giles E Hardingham
    • Conny M A van Ravenswaaij-Arts
    • ...

    Brain - A Journal of Neurology ; Volume: 142 ; Page: 80-92

    HAL DOI

  • 4See: A Flexible Browser to Explore 4C Data

    • Yousra Ben Zouari
    • Angeliki Platania
    • Anne Molitor
    • Tom Sexton

    Frontiers in Genetics ; Volume: 10

    HAL DOI

  • DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation

    • Aude-Marie Lepagnol-Bestel
    • Simon Haziza
    • Julia Viard
    • Paul A. Salin
    • Valérie Crépel
    • Arnaud Duchon
    • Yann Herault
    • Michel Simonneau

    HAL DOI

  • A revisited version of the apo structure of the ligand-binding domain of the human nuclear receptor retinoic X receptor alpha

    • Jérôme Eberhardt
    • Alastair Mcewen
    • W Bourguet
    • Dino Moras
    • Annick Dejaegere

    Acta crystallographica Section F : Structural biology communications [2014-...] ; Volume: 75 ; Page: 98-104

    HAL DOI

  • A novel regulatory region controls IgH locus transcription and switch recombination to a subset of isotypes

    • Rocio Amoretti Villa
    • Melanie Rogier
    • Isabelle Robert
    • Vincent Heyer
    • Bernardo Reina San Martin

    Cellular and Molecular Immunology ; Volume: 16 ; Page: 887-889

    HAL DOI

  • Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study

    • Andoni Echaniz-Laguna
    • Yann Nadjar
    • Anthony Behin
    • Valérie Biancalana
    • Monique Piraud
    • Edoardo Malfatti
    • Pascal Laforet

    Journal of Inherited Metabolic Disease ; Volume: 42 ; Page: 803-808

    HAL DOI

  • [Too old for that? Only others believe it]= Trop vieille pour ca? Seuls les autres le croient

    • Carole Mathelin
    • I Nisand

    Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 47 ; Page: 547-548

    HAL DOI

  • GPR88 in D1R-Type and D2R-Type Medium Spiny Neurons Differentially Regulates Affective and Motor Behavior

    • Aura Carole Meirsman
    • S Ben Hamida
    • E Clarke
    • A de Kerchove d'Exaerde
    • E Darcq
    • B Kieffer

    eNeuro ; Volume: 6 ; Page: ENEURO.0035-19.2019

    HAL DOI

  • Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    • Angélique Quartier
    • Jérémie Courraud
    • Thuong Thi Ha
    • George Mcgillivray
    • Bertrand Isidor
    • Katherine Rose
    • Nathalie Drouot
    • Marie Savidan
    • Claire Feger
    • Hélène Jagline
    • Jamel Chelly
    • Marie Shaw
    • Frédéric Laumonnier
    • Jozef Gecz
    • Jean-Louis Mandel
    • Amélie Piton

    Human Mutation ; Volume: 40 ; Page: 2021-2032

    HAL DOI

  • A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern

    • R Niazi
    • E Fanning
    • Christel Depienne
    • M Sarmady
    • A Abou Tayoun

    Human Mutation ; Volume: 40 ; Page: 243-257

    HAL DOI