Publications scientifiques

Publications

• 2017

  • ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy

    • Johann Bohm
    • Monica Bulla
    • Jill Urquhart
    • Edoardo Malfatti
    • Simon Williams
    • James O'Sullivan
    • Anastazja Szlauer
    • Catherine Koch
    • Giovanni Baranello
    • Martin Mora
    • Michela Ripolone
    • Raffaella Violano
    • Maurizio Moggio
    • Helen Kingston
    • Timothy Dawson
    • Christian Degoede
    • John Nixon
    • Anne Boland
    • Jean-François Deleuze
    • Norma Romero
    • ...

    Human Mutation ; Volume: 38 ; Page: 426-438

    HAL DOI

  • Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

    • Osorio Abath Neto
    • Carlos Heise
    • Cristiane de Araújo Martins Moreno
    • Eduardo de Paula Estephan
    • Lilia Mesrob
    • Doris Lechner
    • Anne Boland
    • Jean-François Deleuze
    • Acary Souza Bulle Oliveira
    • Umbertina Reed
    • Valerie Biancalana
    • Jocelyn Laporte
    • Edmar Zanoteli

    Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127

    HAL DOI

  • Moderate Exercise Allows for shorter Recovery Time in Critical Limb Ischemia

    • Anne-Catherine Lejay
    • Gilles Laverny
    • Stephanie Paradis
    • Anna-Isabel Schlagowski
    • Anne-Laure Charles
    • François Singh
    • Joffrey Zoll
    • Fabien Thaveau
    • Eveline Lonsdorfer
    • Stéphane Dufour
    • Fabrice Favret
    • Valerie Wolff-Galani
    • Daniel Metzger
    • Nabil Chakfé
    • Bernard Geny

    Frontiers in Physiology ; Volume: 8

    HAL DOI

  • Insight into the remarkable affinity and selectivity of the aminobenzosuberone scaffold for the M1 aminopeptidases family based on structure analysis

    • G Peng
    • A Mcewen
    • V Olieric
    • Céline Schmitt
    • Sébastien Albrecht
    • Jean Cavarelli
    • Celine Tarnus

    Proteins - Structure, Function and Bioinformatics ; Volume: 85 ; Page: 1413-1421

    HAL DOI

  • 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