Scientific publications

Publications

• 2017

  • Cardioprotective effect of non-peptidic pkr1 agonist against anthracycline-cardiotoxicity

    • Adeline Gasser
    • Marine Charavin
    • Brigitte Escoubet
    • Nadia Messaddeq
    • Laurent Désaubry
    • Canan Nebigil-Désaubry

    Volume: 19 ; Page: 511-511

    HAL

  • CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

    • Johann Bohm
    • Xavière Lornage
    • Frédéric Chevessier
    • Catherine Birck
    • Simona Zanotti
    • Paola Cudia
    • Monica Bulla
    • Florence Granger
    • Mai Thao Bui
    • Maxime Sartori
    • Christiane Schneider-Gold
    • Edoardo Malfatti
    • Norma Romero
    • Marina Mora
    • Jocelyn Laporte

    Acta Neuropathologica ; Volume: 135 ; Page: 149-151

    HAL DOI

  • The Ikaros family in lymphocyte development

    • Beate Heizmann
    • Philippe Kastner
    • Susan Chan

    Current opinion in immunology ; Volume: 51 ; Page: 14-23

    HAL DOI

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    • Ashley Marsh
    • Timothy Edwards
    • Charles Galea
    • Helen Cooper
    • Elizabeth Engle
    • Saumya Jamuar
    • Aurélie Méneret
    • Marie-Laure Moutard
    • Caroline Nava
    • Agnès Rastetter
    • Gail Robinson
    • Guy Rouleau
    • Emmanuel Roze
    • Megan Spencer-Smith
    • Oriane Trouillard
    • Thierry Billette de Villemeur
    • Christopher Walsh
    • Timothy Yu
    • Delphine Heron
    • Elliott Sherr
    • ...

    Human Mutation ; Volume: 39 ; Page: 23-39

    HAL DOI

  • Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

    • Benjamin Helm
    • Jason Willer
    • Azita Sadeghpour
    • Christelle Golzio
    • Eric Crouch
    • Samantha Schrier Vergano
    • Nicholas Katsanis
    • Erica Davis

    Human Genomics ; Volume: 11

    HAL DOI

  • Meningeal retinoic acid contributes to neocortical lamination and radial migration during mouse brain development

    • Carole Haushalter
    • Brigitte Schuhbaur
    • Pascal Dolle
    • Muriel Rhinn

    Biology Open ; Volume: 6 ; Page: 148-160

    HAL DOI

  • Medical treatment of mammary desmoid-type fibromatosis: which benefit?

    • Louise Scheer
    • Massimo Lodi
    • Sébastien Molière
    • Jean-Emmanuel Kurtz
    • Carole Mathelin

    World Journal of Surgical Oncology ; Volume: 15

    HAL DOI

  • Peculiar clinical presentation of Coxsackievirus B4 infection: neonatal restrictive cardiomyopathy.

    • Pauline Le van Quyen
    • Philippe Desprez
    • Angelo Livolsi
    • Veronique Lindner
    • Samira Fafi-Kremer
    • Pauline Helms
    • Maria Antal

    AJP - Endocrinology and Metabolism

    HAL DOI

  • Modeling human disease in rodents by CRISPR/Cas9 genome editing

    • Marie-Christine Birling
    • Yann Herault
    • Guillaume Pavlovic

    Mammalian Genome ; Volume: 28 ; Page: 291-301

    HAL DOI

  • NMR assignments of the N-terminal domain of Staphylococcus aureus hibernation promoting factor (SaHPF)

    • Konstantin Usachev
    • Rustam Ayupov
    • Shamil Validov
    • Iskander Khusainov
    • Marat Yusupov

    Biomolecular NMR Assignments ; Volume: 12 ; Page: 85-89

    HAL DOI