Scientific publications

Publications

• 2019

  • 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

    HAL DOI

  • Binding of eIF3 in complex with eIF5 and eIF1 to the 40S ribosomal subunit is accompanied by dramatic structural changes

    • Jakub Zeman
    • Yuzuru Itoh
    • Zdeněk Kukačka
    • Michal Rosůlek
    • Daniel Kavan
    • Tomáš Kouba
    • Myrte Jansen
    • Mahabub Mohammad
    • Petr Novák
    • Leoš Valášek

    Nucleic Acids Research ; Volume: 47 ; Page: 8282-8300

    HAL DOI

  • Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements

    • Aurélie Meneret
    • Emmanuel Roze
    • Jean-Baptiste Maranci
    • Pauline Dodet
    • Diane Doummar
    • Florence Riant
    • Christine Tranchant
    • Valérie Fraix
    • Mathieu Anheim
    • Asya Ekmen
    • Eavan Mcgovern
    • Marie Vidailhet
    • Isabelle Arnulf
    • Smaranda Leu-Semenescu

    Journal of Clinical Sleep Medicine ; Volume: 15 ; Page: 1021-1029

    HAL DOI

  • HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

    • Andrés Berardo
    • Xavière Lornage
    • Mridul Johari
    • Teresinha Evangelista
    • Claudia Cejas
    • Fabio Barroso
    • Alberto Dubrovsky
    • Mai Thao Bui
    • Guy Brochier
    • Maria Saccoliti
    • Johann Böhm
    • Bjarne Udd
    • Jocelyn Laporte
    • Norma Beatriz Romero
    • Ana Lia Taratuto

    Journal of Neurology ; Volume: 266 ; Page: 2524-2534

    HAL DOI

  • Centromeric and ectopic assembly of CENP-A chromatin in health and cancer: old marks and new tracks

    • A Sharma
    • S Dimitrov
    • Ali Hamiche
    • E van Dyck

    Nucleic Acids Research ; Volume: 47 ; Page: 1051-1069

    HAL DOI

  • ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

    • Matteo Garibaldi
    • John Rendu
    • Julie Brocard
    • Emmanuelle Lacène
    • Julien Fauré
    • Guy Brochier
    • Maud Beuvin
    • Clémence Labasse
    • Angéline Madelaine
    • Edoardo Malfatti
    • Jorge Alfredo Bevilacqua
    • Fabiana Lubieniecki
    • Soledad Monges
    • Ana Lía Taratuto
    • Jocelyn Laporte
    • Isabelle Marty
    • Giovanni Antonini
    • Norma Beatriz Romero

    Acta Neuropathologica Communications ; Volume: 7

    HAL DOI

  • Self-Learning Microfluidic Platform for Single-Cell Imaging and Classification in Flow

    • Iordania Constantinou
    • Michael Jendrusch
    • Théo Aspert
    • Frederik Gorlitz
    • André Schulze
    • Gilles Charvin
    • Michael Knop

    Micromachines ; Volume: 10

    HAL DOI

  • 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

    HAL DOI

  • [A new breast implant scandal?]= Un nouveau scandale des protheses mammaires ?

    • Carole Mathelin

    Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 47 ; Page: 327-328

    HAL DOI

  • Importance of potassium ions for ribosome structure and function revealed by long-wavelength X-ray diffraction

    • Alexey Rozov
    • Iskander Khusainov
    • Kamel El Omari
    • Ramona Duman
    • Vitaliy Mykhaylyk
    • Marat Yusupov
    • Eric Westhof
    • Armin Wagner
    • Gulnara Yusupova

    Nature Communications ; Volume: 10 ; Page: 2519

    HAL DOI