Publications scientifiques

Publications

• 2016

  • 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

  • The molecular and phenotypic spectrum of IQSEC2 -related epilepsy

    • Ayelet Zerem
    • Kazuhiro Haginoya
    • Dorit Lev
    • Lubov Blumkin
    • Sara Kivity
    • Ilan Linder
    • Cheryl Shoubridge
    • Elizabeth Emma Palmer
    • Michael Field
    • Jackie Boyle
    • David Chitayat
    • William Gaillard
    • Eric Kossoff
    • Marjolaine Willems
    • David Geneviève
    • Frédéric Tran-Mau-Them
    • Orna Epstein
    • Eli Heyman
    • Sarah Dugan
    • Alice Masurel-Paulet
    • ...

    Epilepsia ; Volume: 57 ; Page: 1858 - 1869

    HAL DOI

  • Influenza virus NS1 protein binds cellular DNA to block transcription of antiviral genes

    • Maria Anastasina
    • Nicolas Le May
    • Andrii Bugai
    • Yu Fu
    • Sandra Soderholm
    • Lana Gaelings
    • Tiina Ohman
    • Janne Tynell
    • Suvi Kyttänen
    • Matjaz Barboric
    • Tuula A. Nyman
    • Sampsa Matikainen
    • Ilkka Julkunen
    • Sarah J. Butcher
    • Jean-Marc Egly
    • D. E. Kainov

    BBA - Biochimica et Biophysica Acta ; Volume: 1859 ; Page: 1440-1448

    HAL DOI

  • Physiological Expression of AMPKγ2 Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice

    • Xiaodong Yang
    • John Mudgett
    • Ghina Bou About
    • Marie-France Champy Methlin
    • Hugues Jacobs
    • Laurent Monassier
    • Guillaume Pavlovic
    • Tania Sorg-Guss
    • Yann Hérault
    • Benoît Petit-Demoulière
    • Ku Lu
    • Wen Feng
    • Hongwu Wang
    • Li-Jun Ma
    • Roger Askew
    • Mark D. Erion
    • David E. Kelley
    • Robert W. Myers
    • Cai Li
    • Hong-Ping Guan

    Journal of Biological Chemistry ; Volume: 291 ; Page: 23428-23439

    HAL DOI

  • Reconstructed cell fate-regulatory programs in stem cells reveal hierarchies and key factors of neurogenesis

    • Marco Antonio Mendoza Parra
    • Valeriya Malysheva
    • Mohamed Ashick Mohamed Saleem
    • Michele Lieb
    • Aurelie Godel
    • Hinrich Gronemeyer

    Genome Research ; Volume: 26 ; Page: 1505-1519

    HAL DOI

  • Asymmetrical Functional Deficits of ON and OFF Retinal Processing in the mdx 3Cv Mouse Model of Duchenne Muscular Dystrophy

    • Tina I. Tsai
    • Mirella Telles Salgueiro Barboni
    • Balázs Vince Nagy
    • Michel Roux
    • Alvaro Rendon
    • Dora Fix Ventura
    • Jan Kremers

    Investigative Ophthalmology & Visual Science ; Volume: 57 ; Page: 5788

    HAL DOI

  • Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability

    • Hamid Meziane
    • Malik Khelfaoui
    • Noemi Morello
    • Bassem Hiba
    • Eleonora Calcagno
    • Sophie Reibel-Foisset
    • Mohammed Selloum
    • Jamel Chelly
    • Yann Humeau
    • Fabrice Riet
    • Ginevra Zanni
    • Yann Hérault
    • Thierry Bienvenu
    • Maurizio Giustetto
    • Pierre Billuart

    Human Molecular Genetics ; Volume: 25 ; Page: 2314-2323

    HAL DOI

  • Fonction des protéines BTG/TOB dans la désadénylation des ARN messagers eucaryotes, Function of BTG/Tob proteins in messenger RNA deadenylation in eukaryotes

    • Benjamin Stupfler

    HAL

  • IDD388 Polyhalogenated Derivatives as Probes for an Improved Structure-Based Selectivity of AKR1B10 Inhibitors

    • Alexandra Cousido-Siah
    • Francesc Xavier Ruiz Figueras
    • Jindřich Fanfrlík
    • Joan Giménez-Dejoz
    • André Mitschler
    • Martin Kamlar
    • Jan Veselý
    • Haresh Ajani
    • Xavier Parés
    • Jaume Farrés
    • Pavel Hobza
    • Alberto D. Podjarny

    ACS Chemical Biology ; Volume: 11 ; Page: 2693-2705

    HAL DOI