Scientific publications

Publications

• 2017

  • Article in a journal

    Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors

    • Simon Haziza
    • Nitin Mohan
    • Yann Loe-Mie
    • Aude-Marie Lepagnol-Bestel
    • Sophie Massou
    • Marie-Pierre Adam
    • Xuan Loc Le
    • Julia Viard
    • Christine Plancon
    • Rachel Daudin
    • Pascale Koebel
    • Emilie Dorard
    • Christiane Rose
    • Feng-Jen Hsieh
    • Chih-Che Wu
    • Brigitte Potier
    • Yann Hérault
    • Carlo Sala
    • Aiden Corvin
    • Bernadette Allinquant
    • ...

    Nature Nanotechnology ; Volume: 12 ; Page: 322-328

    HAL DOI

  • Article in a journal

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    • Laurence Faivre
    • Amélie Piton
    • Helene Poquet
    • Paul Kuentz
    • Julien Thevenon
    • Anne-Laure Mosca-Boidron
    • Patrick Callier
    • Frédéric Huet
    • Benoit Trojak
    • Daphne Lehalle
    • Christel Thauvin-Robinet

    European Journal of Human Genetics ; Volume: 25 ; Page: 423-431

    HAL DOI

  • Article in a journal

    Experimental atopic dermatitis depends on IL-33R signaling via MyD88 in dendritic cells

    • Changwei Li
    • Isabelle Maillet
    • Claire Mackowiak
    • Camille Viala
    • Franco Di Padova
    • Mei Li
    • Dieudonnée Togbe
    • Valérie Quesniaux
    • Yuping Lai
    • Bernhard Ryffel

    Cell Death and Disease ; Volume: 8 ; Page: e2735-e2735

    HAL DOI

  • Article in a journal

    Subacute parkinsonism as a complication of Lyme disease.

    • Guillaume Pisché
    • Meriam Koob
    • Thomas Wirth
    • Véronique Quenardelle
    • Ouhaïd Lagha-Boukbiza
    • Mathilde Renaud
    • Mathieu Anheim
    • Christine Tranchant

    Journal of Neurology ; Page: 1015-1019

    HAL DOI

  • Article in a journal

    Low cancer prevalence in polyglutamine expansion diseases

    • Morgane Sonia Thion
    • Giulia Coarelli
    • Alhassane Diallo
    • Daisy Rinaldi
    • Fabienne Calvas
    • Ouahid Lagha Boukbiza
    • Alina Tataru
    • Perrine Charles
    • Christine Tranchant
    • Cecilia Marelli
    • Claire Ewenczyk
    • Maya Tchikviladzé
    • Marie-Lorraine Monin
    • Bertrand Carlander
    • Mathieu Anheim
    • Alexis Brice
    • Fanny Mochel
    • Sophie Tezenas Du Montcel
    • Sandrine Humbert
    • Alexandra Durr

    Neurology ; Volume: 88 ; Page: 1114-1119

    HAL DOI

  • Article in a journal

    Crystal structure of eukaryotic ribosome and its complexes with inhibitors

    • Gulnara Yusupova
    • Marat Yusupov

    Philosophical Transactions of the Royal Society B: Biological Sciences ; Volume: 372 ; Page: 20160184

    HAL DOI

  • Article in a journal

    An ongoing role for Wnt signaling in differentiating melanocytes in vivo

    • Laura Vibert
    • Gerardo Aquino
    • Ines Gehring
    • Tatiana Subkankulova
    • Thomas F. Schilling
    • Andrea Rocco
    • Robert N. Kelsh

    Pigment Cell and Melanoma Research ; Volume: 30 ; Page: 219-232

    HAL DOI

  • Article in a journal

    Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

    • Solveig Heide
    • Boris Keren
    • Thierry Billette de Villemeur
    • Sandra Chantot-Bastaraud
    • Christel Depienne
    • Caroline Nava
    • Cyril Mignot
    • Aurélia Jacquette
    • Eric Fonteneau
    • Elodie Lejeune
    • Corinne Mach
    • Isabelle Marey
    • Sandra Whalen
    • Didier Lacombe
    • Sophie Naudion
    • Caroline Rooryck
    • Annick Toutain
    • Cédric Le Caignec
    • Damien Haye
    • Laurence Olivier-Faivre
    • ...

    The Journal of Pediatrics ; Volume: 185 ; Page: 160 - 166.e1

    HAL DOI

  • Article in a journal

    Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

    • Hasan Tawamie
    • Igor Martianov
    • Natalie Wohlfahrt
    • Rebecca Buchert
    • Gabrielle Mengus
    • Steffen Uebe
    • Luigi Janiri
    • Franz Wolfgang Hirsch
    • Johannes Schumacher
    • Fulvia Ferrazzi
    • Heinrich Sticht
    • André Reis
    • Irwin Davidson
    • Roberto Colombo
    • Rami Abou Jamra

    American Journal of Human Genetics ; Volume: 100 ; Page: 555-561

    HAL DOI

  • Article in a journal

    B cells differentiate in human thymus and express AIRE

    • Vincent Gies
    • Aurélien Guffroy
    • François Danion
    • Philippe Billaud
    • Céline Keime
    • Jean-Daniel Fauny
    • Sandrine Susini
    • Anne Soley
    • Thierry Martin
    • Jean-Louis Pasquali
    • Frédéric Gros
    • Isabelle André-Schmutz
    • Pauline Soulas-Sprauel
    • Anne-Sophie Korganow

    Journal of Allergy and Clinical Immunology ; Volume: 139 ; Page: 1049-1052.e12

    HAL DOI