Scientific publications

Publications

• 2017

  • Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

    • Chantal Sellier
    • Ronald Buijsen
    • Fang He
    • Sam Natla
    • Laura Jung
    • Philippe Tropel
    • Angeline Gaucherot
    • Hugues Jacobs
    • Hamid Meziane
    • Alexandre Vincent
    • Marie-France Champy
    • Tania Sorg
    • Guillaume Pavlovic
    • Marie Wattenhofer-Donze
    • Marie-Christine Birling
    • Mustapha Oulad-Abdelghani
    • Pascal Eberling
    • Frank Ruffenach
    • Mathilde Joint
    • Mathieu Anheim
    • ...

    Neuron ; Volume: 93 ; Page: 331-347

    HAL DOI

  • Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

    • Chantal Sellier
    • Ronald A.M. Buijsen
    • Fang He
    • Sam Natla
    • Laura Jung
    • Philippe Tropel
    • Angeline Gaucherot
    • Hugues Jacobs
    • Hamid Meziane
    • Alexandre Vincent
    • Marie-France Champy
    • Tania Sorg
    • Guillaume Pavlovic
    • Marie Wattenhofer-Donze
    • Marie-Christine Birling
    • Mustapha Oulad-Abdelghani
    • Pascal Eberling
    • Frank Ruffenach
    • Mathilde Joint
    • Mathieu Anheim
    • ...

    Neuron ; Volume: 93 ; Page: 331-347

    HAL DOI

  • WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

    • Matthieu Raess
    • Sylvie Friant
    • Belinda S. Cowling
    • Jocelyn Laporte

    Advances in Biological Regulation ; Volume: 63 ; Page: 49-58

    HAL DOI

  • A discriminative feature selection approach for shape analysis: application to fetal brain cortical folding study

    • J Pontabry
    • François Rousseau
    • C Studholme
    • M Koob
    • J.-L Dietemann

    Medical Image Analysis ; Volume: 35 ; Page: 313 - 326

    HAL DOI

  • Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

    • Jamal Ghoumid
    • Morgane Stichelbout
    • Anne-Sophie Jourdain
    • Frederic Frenois
    • Sophie Lejeune-Dumoulin
    • Marie-Pierre Alex-Cordier
    • Marine Lebrun
    • Pierre Guerreschi
    • Veronique Duquennoy-Martinot
    • Matthieu Vinchon
    • Joel Ferri
    • Matthieu Jung
    • Serge Vicaire
    • Clémence Vanlerberghe
    • Fabienne Escande
    • Florence Petit
    • Sylvie Manouvrier-Hanu

    Genetics in Medicine ; Volume: 19 ; Page: 1013-1021

    HAL DOI

  • Rodent models in Down syndrome research: impact and future opportunities

    • Yann Herault
    • Jean M. Delabar
    • Elizabeth M. C. Fisher
    • Victor L. J. Tybulewicz
    • Eugene Yu
    • Veronique Brault

    Disease Models & Mechanisms ; Volume: 23 ; Page: 578-589

    HAL DOI

  • Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro

    • Maxi Hofrichter
    • Laura Nimtz
    • Julia Tigges
    • Yaschar Kabiri
    • Friederike Schroter
    • Brigitte Royer-Pokora
    • Barbara Hildebrandt
    • Martin Schmuck
    • Alexey Epanchintsev
    • Stephan Theiss
    • James Adjaye
    • Jean-Marc Egly
    • Jean Krutmann
    • Ellen Fritsche

    Stem Cell Research ; Volume: 25 ; Page: 72-82

    HAL DOI

  • Prise en charge des cancers du sein : le changement, c’est maintenant ! [Breast cancer management: The change is now!]

    • Carole Mathelin
    • Elisabeth Luporsi

    Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 45 ; Page: 3-4

    HAL DOI

  • Detecting Spatial Chromatin Organization by Chromosome Conformation Capture II: Genome-Wide Profiling by Hi-C

    • Matteo Viettri Rudan
    • Suzana Hadjur
    • Thomas Sexton

    Methods in Molecular Biology ; Volume: 1589 ; Page: 47-74

    HAL DOI

  • A novel recurrent LIS1 splice site mutation in classic lissencephaly

    • Marion Philbert
    • Camille Maillard
    • Mara Cavallin
    • Alice Goldenberg
    • Cecile Masson
    • Nathalie Boddaert
    • Adrienne El Morjani
    • Julie Steffann
    • Jameleddine Chelly
    • Xavier Gerard
    • Nadia Bahi-Buisson

    American Journal of Medical Genetics Part A ; Volume: 173 ; Page: 561-564

    HAL DOI