Publications scientifiques

Publications

• 2017

  • Telomere Replication in the Absence of Telomerase: Failure, Repair and Adaptation

    • Xu Zhou
    • Henninger Erin
    • Jolivet Pascale
    • Coutelier Héloïse
    • Fallet Emilie
    • Doumic Marie
    • Charvin Gilles
    • Maria Teresa Teixeira

    HAL

  • Retinoic acid signaling is dispensable for somatic development and function in the mammalian ovary

    • Anna Minkina
    • Robin Lindeman
    • Micah Gearhart
    • Anne Amandine Chassot
    • Marie-Christine Chaboissier
    • Norbert Ghyselinck
    • Vivian Bardwell
    • David Zarkower

    Developmental Biology ; Volume: 424 ; Page: 208-220

    HAL DOI

  • Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

    • Taro Ishiguro
    • Nozomu Sato
    • Morio Ueyama
    • Nobuhiro Fujikake
    • Chantal Sellier
    • Akemi Kanegami
    • Eiichi Tokuda
    • Bita Zamiri
    • Terence Gall-Duncan
    • Mila Mirceta
    • Yoshiaki Furukawa
    • Takanori Yokota
    • Keiji Wada
    • J. Paul Taylor
    • Christopher Pearson
    • Nicolas Charlet-Berguerand
    • Hidehiro Mizusawa
    • Yoshitaka Nagai
    • Kinya Ishikawa

    Neuron ; Volume: 94 ; Page: 108-124.e7

    HAL DOI

  • Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    • Ashley P. L. Marsh
    • Delphine Héron
    • Timothy J. Edwards
    • Angélique Quartier
    • Charles Galea
    • Caroline Nava
    • Agnès Rastetter
    • Marie-Laure Moutard
    • Vicki Anderson
    • Pierre Bitoun
    • Jens Bunt
    • Anne Faudet
    • Catherine Garel
    • Greta Gillies
    • Ilan Gobius
    • Justine Guegan
    • Solveig Heide
    • Boris Keren
    • Fabien Lesne
    • Vesna Lukic
    • ...

    Nature Genetics ; Volume: 49 ; Page: 511-514

    HAL DOI

  • Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    • Christel Depienne
    • Caroline Nava
    • Boris Keren
    • Solveig Heide
    • Agnès Rastetter
    • Sandrine Passemard
    • Sandra Chantot-Bastaraud
    • Marie-Laure Moutard
    • Pankaj B. Agrawal
    • Grace Vannoy
    • Joan M. Stoler
    • David J. Amor
    • Thierry Billette De Villemeur
    • Diane Doummar
    • Caroline Alby
    • Valérie Cormier-Daire
    • Catherine Garel
    • Pauline Marzin
    • Sophie Scheidecker
    • Anne de Saint-Martin
    • ...

    Human Genetics ; Volume: 136 ; Page: 463-479

    HAL DOI

  • 219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

    • Peter Hackman
    • Bjarne Udd
    • Carsten Bönnemann
    • Ana Ferreiro

    Neuromuscular Disorders ; Volume: 27 ; Page: 396-407

    HAL DOI

  • Hox functional diversity: Novel insights from flexible motif folding and plastic protein interaction

    • Miguel Ortiz-Lombardía
    • Nicolas Foos
    • Corinne Maurel-Zaffran
    • Andrew Saurin
    • Yacine Graba

    BioEssays ; Volume: 39

    HAL DOI

  • 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

  • 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

  • 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