Publications scientifiques

Publications

• 2019

  • Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies

    • Vanessa Schartner
    • Jocelyn Laporte
    • Johann Böhm

    Journal of Neuromuscular Diseases ; Volume: 6 ; Page: 289 - 305

    HAL DOI

  • An actin-based viscoplastic lock ensures progressive body-axis elongation

    • Alicia Lardennois
    • Teresa Ferraro
    • Flora Llense
    • Michel Labouesse
    • Gabriella Pásti
    • Julien Pontabry
    • David Rodriguez
    • Samantha Kim
    • Christelle Gally
    • Pierre Mahou
    • Emmanuel Beaurepaire
    • Shoichiro Ono

    Nature ; Volume: 573 ; Page: 266-270

    HAL DOI

  • 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

  • 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

  • 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

  • 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

  • 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

  • TouchScreen-based phenotyping: altered stimulus/reward association and lower perseveration to gain a reward in mu opioid receptor knockout mice

    • Laura-Joy Boulos
    • Taufiq Nasseef
    • Michaël Mcnicholas
    • Anna Mechling
    • Laura Harsan
    • Emmanuel Darcq
    • Sami Ben Hamida
    • Brigitte Kieffer

    Scientific Reports ; Volume: 9

    HAL DOI

  • 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

  • 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