Publications scientifiques

Publications

• 2019

  • 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

  • Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors

    • Samantha Carrillo-Rosas
    • Chantal Weber
    • Lorraine Fievet
    • Nadia Messaddeq
    • Alice Karam
    • Yvon Trottier

    Human Molecular Genetics ; Volume: 28 ; Page: 912-927

    HAL DOI

  • Backbone and side chain NMR assignments for the ribosome binding factor A (RbfA) from Staphylococcus aureus

    • Dmitriy Blokhin
    • Aydar Bikmullin
    • Liliya Nurullina
    • Natalia Garaeva
    • Shamil Validov
    • Vladimir Klochkov
    • Albert Aganov
    • Iskander Khusainov
    • Marat Yusupov
    • Konstantin Usachev

    Biomolecular NMR Assignments ; Volume: 13 ; Page: 27-30

    HAL DOI

  • High-Quality Data of Protein/Peptide Interaction by Isothermal Titration Calorimetry

    • Juan Ramirez
    • Yves Nominé

    Methods in Molecular Biology ; Volume: 1964 ; Page: 99-117

    HAL DOI

  • Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

    • M Synofzik
    • Hélène Puccio
    • F Mochel
    • L Schols

    Neuron ; Volume: 101 ; Page: 560-583

    HAL DOI

  • Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

    • Johann Böhm
    • Edoardo Malfatti
    • Emily Oates
    • Kristi Jones
    • Guy Brochier
    • Anne Boland
    • Jean-François Deleuze
    • Norma Beatriz Romero
    • Jocelyn Laporte

    Journal of Medical Genetics ; Volume: 56 ; Page: 617-621

    HAL DOI