Publications

• 2019

  • Article in a journal

    Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

    • Francesco Mattiotti
    • B Isidor
    • O Abdul-Rahman
    • A Gunter
    • L Huang
    • R Kumar
    • C Beaulieu
    • J Gecz
    • M Innes
    • Jean-Louis Mandel
    • Amélie Piton

    Human Molecular Genetics ; Volume: 28 ; Page: 952-960

    HALDOI

  • Article in a journal

    Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

    • Suzanna Frints
    • Aysegul Ozanturk
    • Germán Rodriguez Criado
    • Ute Grasshoff
    • Bas de Hoon
    • Michael Field
    • Sylvie Manouvrier-Hanu
    • Scott E Hickey
    • Molka Kammoun
    • Karen Gripp
    • Claudia Bauer
    • Christopher Schroeder
    • Annick Toutain
    • Theresa Mihalic Mosher
    • Benjamin Kelly
    • Peter White
    • Andreas Dufke
    • Eveline Rentmeester
    • Sungjin Moon
    • Daniel Koboldt
    • ...

    Mol Psychiatry ; Volume: 24 ; Page: 1748-1768

    HALDOI

  • Article in a journal

    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

    HALDOI

  • Article in a journal

    Cryo-EM structure of the complete E. coli DNA gyrase nucleoprotein complex

    • Arnaud Vanden Broeck
    • Christophe Lotz
    • Julio Ortiz Espinoza
    • Valerie Lamour

    Nature Communications ; Volume: 10 ; Page: 4935

    HALDOI

  • Article in a journal

    eIF2B-catalyzed nucleotide exchange and phosphoregulation by the integrated stress response

    • Lillian Kenner
    • Aditya Anand
    • Henry Nguyen
    • Alexander Myasnikov
    • Carolin Klose
    • Lea Mcgeever
    • Jordan Tsai
    • Lakshmi Miller-Vedam
    • Peter Walter
    • Adam Frost

    Science ; Volume: 364 ; Page: 491-495

    HALDOI

  • Article in a journal

    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

    HALDOI

  • Article in a journal

    Phosphorylation and Alternative Translation on Wheat Germ Cell-Free Protein Synthesis of the DHBV Large Envelope Protein

    • Guillaume David
    • Marie-Laure Fogeron
    • Roland Montserret
    • Lauriane Lecoq
    • Adeline Page
    • Frédéric Delolme
    • Michael Nassal
    • Anja Böckmann

    Frontiers in Molecular Biosciences ; Volume: 6 ; Page: 138

    HALDOI

  • Article in a journal

    Lack of anticipatory behavior in Gpr88 knockout mice revealed by automatized home cage phenotyping.

    • G. Maroteaux
    • Tanzil Mahmud Arefin
    • Laura Harsan
    • Emmanuel Darcq
    • Sami Ben Hamida
    • Brigitte Kieffer

    Genes, Brain and Behavior

    HALDOI

  • Article in a journal

    Biased Signaling of the Mu Opioid Receptor Revealed in Native Neurons

    • Aliza T. Ehrlich
    • Meriem Semache
    • Florence Gross
    • Dillon da Fonte
    • Leonie Runtz
    • Christine Colley
    • Amina Mezni
    • Christian Le Gouill
    • Viktoriya Lukasheva
    • Mireille Hogue
    • Emmanuel Darcq
    • Michel Bouvier
    • Brigitte Kieffer

    iScience ; Volume: 14 ; Page: 47-57

    HALDOI

  • Article in a journal

    CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene

    • Christine Tranchant
    • Mathieu Anheim

    Revue Neurologique ; Volume: 175 ; Page: 493-494

    HALDOI