Scientific publications

Publications

• 2019

  • Article in a journal

    Wolbachia endosymbionts subvert the endoplasmic reticulum to acquire host membranes without triggering ER stress

    • Nour Fattouh
    • Chantal Cazevieille
    • Frédéric Landmann

    PLoS Neglected Tropical Diseases ; Volume: 13 ; Page: e0007218

    HAL DOI

  • Article in a journal

    Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

    • Tristan Rey
    • Julien Tarabeux
    • Bénédicte Gerard
    • Marion Delbarre
    • Antony Le Béchec
    • Corinne Stoetzel
    • Megana Prasad
    • Virginie Laugel-Haushalter
    • Marzena Kawczynski
    • Jean Muller
    • Jamel Chelly
    • Hélène Dollfus
    • Marie-Cécile Maniere
    • Agnès Bloch-Zupan

    Methods in Molecular Biology ; Volume: 1922

    HAL DOI

  • Article in a journal

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

    • Virginie Laugel-Haushalter
    • Séverine Bär
    • Elise Schaefer
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Yves Alembik
    • Naji Kharouf
    • Mathilde Huckert
    • Pauline Hamm
    • Joseph Hemmerlé
    • Marie-Cécile Maniere
    • Sylvie Friant
    • Hélène Dollfus
    • Agnès Bloch-Zupan

    Frontiers in Genetics ; Volume: 10 ; Page: 504

    HAL DOI

  • Article in a journal

    Clinical, histological, and genetic characterization of PYROXD1-related myopathy

    • Xavière Lornage
    • Vanessa Schartner
    • Inès Balbueno
    • Valérie Biancalana
    • Tracey Willis
    • Andoni Echaniz-Laguna
    • Sophie Scheidecker
    • Ros Quinlivan
    • Michel Fardeau
    • Edoardo Malfatti
    • Béatrice Lannes
    • Caroline Sewry
    • Norma B. Romero
    • Jocelyn Laporte
    • Johann Böhm

    Acta Neuropathologica Communications ; Volume: 7 ; Page: 138

    HAL DOI

  • Article in a journal

    La myopathie liée à PYROXD1: Caractérisation clinique, histologique, et génétique. [PYROXD1-related myopathy]

    • Xavière Lornage
    • Norma Romero
    • Jocelyn Laporte
    • Johann Bohm

    Médecine/Sciences ; Volume: 35 ; Page: 43-44

    HAL DOI

  • Article in a journal

    SIRT7 mediates L1 elements transcriptional repression and their association with the nuclear lamina

    • Berta Vazquez
    • Joshua Thackray
    • Nicolas Simonet
    • Sanjay Chahar
    • Noriko Kane-Goldsmith
    • Simon Newkirk
    • Suman Lee
    • Jinchuan Xing
    • Michael Verzi
    • Wenfeng An
    • Alejandro Vaquero
    • Jay Tischfield
    • Lourdes Serrano

    Nucleic Acids Research ; Volume: 47 ; Page: 7870-7885

    HAL DOI

  • Article in a journal

    Diagnostic value of fusion of metabolic and structural images for stereotactic biopsy of brain tumors without enhancement after contrast medium injection

    • Julien Todeschi
    • Caroline Bund
    • Hélène Cebula
    • Salvatore Chibbaro
    • Benoît Lhermitte
    • Yvan Pin
    • François Lefebvre
    • Izzie-Jacques Namer
    • François Proust

    Neurochirurgie ; Volume: 65 ; Page: 357-364

    HAL DOI

  • Article in a journal

    MIR sequences recruit zinc finger protein ZNF768 to expressed genes

    • Michaela Rohrmoser
    • Michael Kluge
    • Yousra Yahia
    • Anita Gruber-Eber
    • Muhammad Ahmad Maqbool
    • Ignasi Forné
    • Stefan Krebs
    • Helmut Blum
    • Ann Katrin Greifenberg
    • Matthias Geyer
    • Nicolas Descostes
    • Axel Imhof
    • Jean Christophe Andrau
    • Caroline Friedel
    • Dirk Eick

    Nucleic Acids Research ; Volume: 47 ; Page: 700-715

    HAL DOI

  • Article in a journal

    Deinococcus radiodurans' SRA-HNH domain containing protein Shp (Dr1533) is involved in faithful genome inheritance maintenance following DNA damage

    • Alex Ferrandi
    • Federica Gastoni
    • Mauro Pitaro
    • Sara Tagliaferri
    • Claire Bouthier de La Tour
    • Rosa Alduina
    • Suzanne Sommer
    • Mauro Fasano
    • Paola Barbieri
    • Monica Mancini
    • Ian Marc Bonapace

    Biochimica et Biophysica Acta (BBA) - General Subjects ; Volume: 1863 ; Page: 118--129

    HAL DOI

  • Article in a journal

    Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

    • Sophie Scheidecker
    • Séverine Bär
    • Corinne Stoetzel
    • Véronique Geoffroy
    • Béatrice Lannes
    • Bruno Rinaldi
    • Frédéric Fischer
    • Hubert D. Becker
    • Valérie Pelletier
    • Cécile Pagan
    • Cécile Acquaviva-Bourdain
    • Stéphane Kremer
    • Marc Mirande
    • Christine Tranchant
    • Jean Muller
    • Sylvie Friant
    • Hélène Dollfus

    Human Mutation ; Volume: 40 ; Page: 1826-1840

    HAL DOI