Scientific publications

Publications

• 2019

  • Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy

    • Xènia Massana Munoz
    • Suzie Buono
    • Pascale Koebel
    • Jocelyn Laporte
    • Belinda Cowling

    Human Molecular Genetics ; Volume: 28 ; Page: 4067-4077

    HAL DOI

  • Discovery of N-Substituted 3-Amino-4-(3-boronopropyl)pyrrolidine-3-carboxylic Acids as Highly Potent Third-Generation Inhibitors of Human Arginase I and II

    • Michael van Zandt
    • G. Erik Jagdmann
    • Darren Whitehouse
    • Minkoo Ji
    • Jennifer Savoy
    • Olga Potapova
    • Alexandra Cousido-Siah
    • André Mitschler
    • Eduardo Howard
    • Anna Marie Pyle
    • Alberto Podjarny

    Journal of Medicinal Chemistry ; Volume: 62 ; Page: 8164-8177

    HAL DOI

  • A novel heterozygous ANO3 mutation responsible for myoclonic dystonia

    • Chloé Laurencin
    • Emmanuel Broussolle
    • Teodor Danaila
    • Mathieu Anheim
    • Jamel Chelly
    • Stephane Thobois

    J Neurol Sci ; Volume: 403 ; Page: 65-66

    HAL DOI

  • STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

    • Roberto Silva Rojas
    • Susan Treves
    • Hugues Jacobs
    • Pascal Kessler
    • Nadia Messaddeq
    • Jocelyn Laporte
    • Johann Böhm

    Human Molecular Genetics ; Volume: 28 ; Page: 1579-1593

    HAL DOI

  • Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia

    • A Delamarre
    • Jamel Chelly
    • D Guehl
    • Nathalie Drouot
    • Christine Tranchant
    • Mathieu Anheim
    • P Burbaud

    Parkinsonism & Related Disorders ; Volume: 64 ; Page: 346-348

    HAL DOI

  • Anterior-enriched filopodia create the appearance of asymmetric membrane microdomains in polarizing C. elegans zygotes

    • Nisha Hirani
    • Rukshala Illukkumbura
    • Tom Bland
    • Greǵoire Mathonnet
    • Delphine Suhner
    • Anne-Cécile Reymann
    • Nathan W Goehring

    Journal of Cell Science

    HAL DOI

  • Activation of the Endonuclease that Defines mRNA 3' Ends Requires Incorporation into an 8-Subunit Core Cleavage and Polyadenylation Factor Complex

    • Chris Hill
    • Vytauté Boreikaite
    • Ananthanarayanan Kumar
    • Ana Casanal
    • Peter Kubik
    • Gianluca Degliesposti
    • Sarah Maslen
    • Angelica Mariani
    • Ottilie von Loeffelholz
    • Mathias Girbig
    • Mark Skehel
    • Lori Passmore

    Molecular Cell ; Volume: 73 ; Page: 1217-1231

    HAL DOI

  • Chapitre 6 -Femina narrans de Meriem d'Alger à Montréal

    • Pierre Chambon

    Approches (auto)biographiques et nouvelles épreuves de transition

    HAL

  • Phosphorylation and Alternative Translation on Wheat Germ Cell-Free Protein Synthesis of the DHBV Large Envelope Protein

    • Guillaume David
    • Marie-Laure Fogeron
    • Roland Montserret
    • Lauriane Lecoq
    • Adeline Page
    • Frédéric Delolme
    • Michael Nassal
    • Anja Böckmann

    Frontiers in Molecular Biosciences ; Volume: 6 ; Page: 138

    HAL DOI

  • Expansions de répétitions introniques ATTTC dans STARD7 dans l'épilepsie myoclonique familiale adulte liée au chromosome 2, Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    • Mark Corbett
    • Thessa Kroes
    • Liana Veneziano
    • Mark Bennett
    • Rahel Florian
    • Amy Schneider
    • Antonietta Coppola
    • Laura Licchetta
    • Silvana Franceschetti
    • Antonio Suppa
    • Aaron Wenger
    • Davide Mei
    • Manuela Pendziwiat
    • Sabina Kaya
    • Massimo Delledonne
    • Rachel Straussberg
    • Luciano Xumerle
    • Brigid Regan
    • Douglas Crompton
    • Anne-Fleur van Rootselaar
    • ...

    Nature Communications ; Volume: 10

    HAL DOI