Publications scientifiques

Publications

• 2020

  • Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

    • Aurélien Juven
    • Sophie Nambot
    • Amélie Piton
    • Nolwenn Jean-Marçais
    • Alice Masurel
    • Patrick Callier
    • Nathalie Marle
    • Anne-Laure Mosca-Boidron
    • Paul Kuentz
    • Christophe Philippe
    • Martin Chevarin
    • Yannis Duffourd
    • Élodie Gautier
    • Arnold Munnich
    • Marlene Rio
    • Sophie Rondeau
    • Salima El Chehadeh
    • Elise Schaefer
    • Bénédicte Gerard
    • Sonia Bouquillon
    • ...

    European Journal of Human Genetics

    HAL DOI

  • Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

    • Manon Boivin
    • Véronique Pfister
    • Angeline Gaucherot
    • Frank Ruffenach
    • Luc Negroni
    • Chantal Sellier
    • Nicolas Charlet‐berguerand

    EMBO Journal ; Volume: 39 ; Page: e100574

    HAL DOI

  • Structural and Functional Studies of Human Type II Topoisomerases and their Post-Translational Modifications

    • Christophe Lotz
    • Claire Bedez
    • Claire Batisse
    • Arnaud Vanden Broeck
    • Drillien Robert
    • Marc Ruff
    • Valerie Lamour

    Biophysical Journal ; Volume: 118 ; Page: 532a

    HAL DOI

  • HIV-1 Pre-Integration Complexes. Structures, Functions and Drug Design

    • Julien Batisse
    • Eduardo Bruch
    • Nicolas Lévy
    • Sylvia Eiler
    • Sylvie Duclaud
    • Patrick Schultz
    • Patrice Gouet
    • Serge Bouaziz
    • Olivier Delelis
    • Vincent Parissi
    • M. Ruff

    HAL

  • A simple PCR-based method to follow and genotype alleles with single nucleotide changes

    • Marie-Charlotte Morin
    • Sarah Hoff-Yoessle
    • Sophie Jarriault

    microPublication biology

    HAL DOI

  • Defining Functionally Relevant Spatial Chromatin Domains: It is a TAD Complicated

    • Natalia Sikorska
    • Tom Sexton

    Journal of Molecular Biology ; Volume: 432 ; Page: 653 - 664

    HAL DOI

  • Rescue of Defective Electroretinographic Responses in Dp71-Null Mice With AAV-Mediated Reexpression of Dp71

    • Mirella Telles Salgueiro Barboni
    • Cyrille Vaillend
    • Anneka Joachimsthaler
    • André Maurício Passos Liber
    • Hanen Khabou
    • Michel Roux
    • Ophélie Vacca
    • Lucile Vignaud
    • Deniz Dalkara
    • Xavier Guillonneau
    • Jan Kremers
    • Dora Fix Ventura
    • Alvaro Rendon

    Investigative Ophthalmology & Visual Science ; Volume: 61 ; Page: 11

    HAL DOI

  • “Stochastic Resonance” for Individual Cells

    • Daniel Riveline
    • Simon Lo Vecchio

    Biophysical Journal ; Volume: 118 ; Page: 533-534

    HAL DOI

  • HIV-1 Pre-Integration Complexes. Structures, Functions and Drug Design

    • Julien Batisse
    • Eduardo Bruch
    • Nicolas Levy
    • Sylvia Eiler
    • Sylvie Duclaud
    • Patrick Schultz
    • Patrice Gouet
    • Serge Bouaziz
    • Olivier Delelis
    • Vincent Parissi
    • Marc Ruff

    Biophysical Journal ; Volume: 118 ; Page: 500a

    HAL DOI

  • ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

    • Rocío Villar‐quiles
    • Fabio Catervi
    • Eva Cabet
    • Raul Juntas-Morales
    • Casie A Genetti
    • Teresa Gidaro
    • Asuman Koparir
    • Adnan Yüksel
    • Sandra Coppens
    • Nicolas Deconinck
    • Emma Pierce‐hoffman
    • Xavière Lornage
    • Julien Durigneux
    • Jocelyn Laporte
    • John Rendu
    • Norma B Romero
    • Alan H Beggs
    • Laurent Servais
    • Mireille Cossée
    • Montse Olivé
    • ...

    Annals of Neurology ; Volume: 87 ; Page: 217-232

    HAL DOI