Publications scientifiques

Publications

• 2019

  • Article dans une revue

    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

  • Article dans une revue

    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

  • Article dans une revue

    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

  • Article dans une revue

    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

  • Article dans une revue

    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

  • Article dans une revue

    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

  • Article dans une revue

    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

    • K Nixon
    • J Rousseau
    • M Stone
    • M Sarikahya
    • S Ehresmann
    • S Mizuno
    • N Matsumoto
    • N Miyake
    • D Baralle
    • S Mckee
    • K Izumi
    • A Ritter
    • S Heide
    • D Heron
    • Christel Depienne
    • H Titheradge
    • J Kramer
    • P Campeau

    American Journal of Human Genetics ; Volume: 104 ; Page: 596-610

    HAL DOI

  • Article dans une revue

    Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome)

    • Charles Velter
    • Nadia Messaddeq
    • E Levy
    • C Morruzzi
    • Bernard Cribier
    • Nassim Dali-Youcef
    • Dan Lipsker

    Journal of the European Academy of Dermatology and Venereology ; Volume: 33 ; Page: 2188-2191

    HAL DOI

  • Article dans une revue

    Solution structure of the N-terminal domain of the Staphylococcus aureus hibernation promoting factor

    • Konstantin Usachev
    • Shamil Validov
    • Iskander Khusainov
    • Alexander Varfolomeev
    • Vladimir Klochkov
    • Albert Aganov
    • Marat Yusupov

    Journal of Biomolecular NMR ; Volume: 73 ; Page: 223-227

    HAL DOI

  • Article dans une revue

    Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

    • Regis Lopez
    • Francois Rivier
    • Jamel Chelly
    • Yves Dauvilliers

    Annals of Clinical and Translational Neurology ; Volume: 6 ; Page: 1900-1904

    HAL DOI