Publications scientifiques

Publications

• 2016

  • Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

    • Nasim Vasli
    • Elizabeth Harris
    • Jason Karamchandani
    • Eric Bareke
    • Jacek Majewski
    • Norma B. Romero
    • Tanya Stojkovic
    • Rita Barresi
    • Hichem Tasfaout
    • Richard Charlton
    • Edoardo Malfatti
    • Johann Böhm
    • Chiara Marini-Bettolo
    • Karine Choquet
    • Marie-Josée Dicaire
    • Yi-Hong Shao
    • Ana Topf
    • Erin O’ferrall
    • Bruno Eymard
    • Volker Straub
    • ...

    Brain - A Journal of Neurology ; Volume: 140 ; Page: 37-48

    HAL DOI

  • ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

    • C. Mignot
    • M. L. Moutard
    • A. Rastetter
    • L. Boutaud
    • S. Heide
    • T. Billette
    • D. Doummar
    • C. Garel
    • A. Afenjar
    • A. Jacquette
    • D. Lacombe
    • A. Verloes
    • C. Bole-Feysot
    • P. Nitschke
    • C. Masson
    • A. Faudet
    • F. Lesne
    • T. Bienvenu
    • C. Alby
    • T. Attie-Bitach
    • ...

    Brain - A Journal of Neurology ; Volume: 139

    HAL DOI

  • Fragile X syndrome: Are signaling lipids the missing culprits?

    • Ricardos Tabet
    • Nicolas Vitale
    • Hervé Moine

    Biochimie ; Volume: 130 ; Page: 188-194

    HAL DOI

  • Structure of the active form of Dcp1–Dcp2 decapping enzyme bound to m7GDP and its Edc3 activator

    • Clément Charenton
    • Valerio Taverniti
    • Claudine Gaudon-Plesse
    • Régis Back
    • Bertrand Séraphin
    • Marc Graille

    Nature Structural and Molecular Biology ; Volume: 23 ; Page: 982-986

    HAL DOI

  • Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

    • Loic Broix
    • Hélène Jagline
    • Ekaterina L Ivanova
    • Stéphane Schmucker
    • Nathalie Drouot
    • Jill Clayton-Smith
    • Alistair T. Pagnamenta
    • Kay Metcalfe
    • Bertrand Isidor
    • Ulrike Walther Louvier
    • Annapurna Poduri
    • Jenny Taylor
    • Peggy Tilly
    • Karine Poirier
    • Yoann Saillour
    • Nicolas Lebrun
    • Tristan Stemmelen
    • Gabrielle Rudolf
    • Giuseppe Muraca
    • Benjamin Saintpierre
    • ...

    Nature Genetics ; Volume: 48 ; Page: 1349-1358

    HAL DOI

  • Ribosomal 18S rRNA base pairs with mRNA during eukaryotic translation initiation

    • Franck Martin
    • Jean-François Ménétret
    • Angelita Simonetti
    • Alexander G. Myasnikov
    • Quentin Vicens
    • Lydia Prongidi-Fix
    • S. Kundhavai Natchiar
    • Bruno P. Klaholz
    • Gilbert Eriani

    Nature Communications ; Volume: 7 ; Page: 12622

    HAL DOI

  • Eukaryotic Ribosome as a Target for Cardiovascular Disease

    • Simone Pellegrino
    • Gulnara Yusupova

    Cell Chemical Biology ; Volume: 23 ; Page: 1319-1321

    HAL DOI

  • Construction of a compatible Gateway-based co-expression vector set for expressing multiprotein complexes in E. coli

    • Loubna Salim
    • Claire Feger
    • Didier Busso

    Analytical Biochemistry ; Volume: 512 ; Page: 110-113

    HAL DOI

  • Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    • Gina L. O’grady
    • Heather A. Best
    • Tamar E. Sztal
    • Vanessa Schartner
    • Myriam Sanjuan-Vazquez
    • Sandra Donkervoort
    • Osorio Abath Neto
    • Roger Bryan Sutton
    • Biljana Ilkovski
    • Norma Beatriz Romero
    • Tanya Stojkovic
    • Jahannaz Dastgir
    • Leigh B. Waddell
    • Anne Boland
    • Ying Hu
    • Caitlin Williams
    • Avnika A. Ruparelia
    • Thierry Maisonobe
    • Anthony J. Peduto
    • Stephen W. Reddel
    • ...

    American Journal of Human Genetics ; Volume: 99 ; Page: 1086-1105

    HAL DOI

  • Beware, polyarteritis nodosa still exists in nephrology!

    • Justine Perrin
    • Julie Carvelli
    • Bertrand Gondouin
    • Laurent Daniel
    • Megan Fraisse
    • Céline Gaudon
    • Fouad Bouzana
    • Henri Vacher-Coponat
    • Julie Moussi-Francès
    • Bertrand Dussol
    • Noemie Jourde-Chiche

    Néphrologie & Thérapeutique ; Page: 463-467

    HAL