Publications scientifiques

Publications

• 2010

  • Cardiac Muscarinic Receptor Overexpression in Sudden Infant Death Syndrome

    • Angelo Livolsi
    • Nathalie Niederhoffer
    • Nassim Dali-Youcef
    • Caroline Rambaud
    • Catherine Olexa
    • Walid Mokni
    • Jean-Pierre Gies
    • Pascal Bousquet

    PLoS ONE ; Volume: 5 ; Page: e9464

    HAL DOI

  • Proteolysis of Mutant Huntingtin Produces an Exon 1 Fragment That Accumulates as an Aggregated Protein in Neuronal Nuclei in Huntington Disease

    • Christian Landles
    • Kirupa Sathasivam
    • Andreas Weiss
    • Ben Woodman
    • Hilary Moffitt
    • Steve Finkbeiner
    • Banghua Sun
    • Juliette Gafni
    • Lisa Ellerby
    • Yvon Trottier
    • William Richards
    • Alex Osmand
    • Paolo Paganetti
    • Gillian Bates

    Journal of Biological Chemistry ; Volume: 285 ; Page: 8808-8823

    HAL DOI

  • Interdependence of AMPK and SIRT1 for Metabolic Adaptation to Fasting and Exercise in Skeletal Muscle

    • Carles Cantó
    • Lake Jiang
    • Atul Deshmukh
    • Chikage Mataki
    • Agnes Coste
    • Marie Lagouge
    • Juleen Zierath
    • Johan Auwerx

    Cell Metabolism ; Volume: 11 ; Page: 213-219

    HAL DOI

  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    • Jean Muller
    • Corinne Stoetzel
    • Marie-Claire Vincent
    • Carmen C Leitch
    • Virginie Laurier
    • Jean Marc Danse
    • S. Hellé
    • Vincent Marion
    • V. Bennouna-Greene
    • Serge Vicaire
    • André Mégarbané
    • Josseline Kaplan
    • Valérie Drouin-Garraud
    • M. Hamdani
    • Sabine Sigaudy
    • Christine Francannet
    • Joëlle Roume
    • P. Bitoun
    • Alice Goldenberg
    • Nicole Philip
    • ...

    Human Genetics ; Volume: 127 ; Page: 583-93

    HAL DOI

  • Visualization of multiple alignments, phylogenies and gene family evolution.

    • James B Procter
    • Julie D. Thompson
    • Ivica Letunic
    • Chris Creevey
    • Fabrice Jossinet
    • Geoffrey J Barton

    Nature Methods ; Volume: 7 ; Page: S16-25

    HAL DOI

  • Poly(l-lysine) nanostructured particles for gene delivery and hormone stimulation

    • Xin Zhang
    • Mustapha Oulad-Abdelghani
    • Alexander Zelkin
    • Yajun Wang
    • Youssef Haîkel
    • Didier Mainard
    • Jean-Claude Voegel
    • Frank Caruso
    • Nadia Benkirane-Jessel

    Biomaterials ; Volume: 31 ; Page: 1699-1706

    HAL DOI

  • Divergent roles of prokineticin receptors in the endothelial cells: angiogenesis and fenestration

    • Célia Guilini
    • Kyoji Urayama
    • Gulen Turkeri
    • Deniz B. Dedeoglu
    • Hitoshi Kurose
    • Nadia Messaddeq
    • Canan G Nebigil

    AJP - Heart and Circulatory Physiology ; Volume: 298 ; Page: H844-H852

    HAL DOI

  • Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

    • Chantal Sellier
    • Frédérique Rau
    • Yilei Liu
    • Flora Tassone
    • Renate Hukema
    • Renata Gattoni
    • Anne Schneider
    • Stéphane Richard
    • Rob Willemsen
    • David Elliott
    • Paul Hagerman
    • Nicolas Charlet-Berguerand

    EMBO Journal ; Volume: 29 ; Page: 1248-1261

    HAL DOI

  • CRT-1/calreticulin and the E3 ligase EEL-1/HUWE1 control hemidesmosome maturation in C. elegans development.

    • Hala Zahreddine
    • Huimin Zhang
    • Marie Diogon
    • Yasuko Nagamatsu
    • Michel Labouesse

    Current Biology ; Volume: 20 ; Page: 322-7

    HAL DOI

  • Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

    • Verity Mcclelland
    • Thomas Cullup
    • Istvan Bodi
    • Deborah Ruddy
    • Anna Buj-Bello
    • Valerie Biancalana
    • J. Boehm
    • Marc Bitoun
    • Owen Miller
    • Wajanat Jan
    • Esse Menson
    • Luis Amaya
    • John Trounce
    • Jocelyn Laporte
    • Shehla Mohammed
    • Caroline Sewry
    • Julian Raiman
    • Heinz Jungbluth

    American Journal of Medical Genetics Part A ; Volume: 152A ; Page: 741-747

    HAL DOI