Publications scientifiques

Publications

• 2014

  • PARP3 affects the relative contribution of homologous recombination and non homologous end-joining pathways

    • Carole Beck
    • Christian Boehler
    • J Guirouilh-Barbat
    • Me Bonnet
    • Giuditta Illuzzi
    • P Ronde
    • Lr Gauthier
    • N Magroun
    • Bs Lopez
    • R Scully
    • Fd Boussin
    • Valérie Schreiber
    • Françoise Dantzer

    HAL

  • Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts.

    • Véronique Quenardelle
    • Marc Bataillard
    • Dorothée Bazin
    • Béatrice Lannes
    • Valerie Wolf
    • Andoni Echaniz-Laguna

    Journal of Neurology ; Volume: 262 ; Page: 473-475

    HAL DOI

  • Contribution of mouse models for understanding diseases associated with changes in the number of copies : 21 monosomy and partial deletions and duplications of the 16p11.2 region and 17q21.31, Apport des modèles murins à la compréhension des maladies associées à des variations du nombre de copies : monosomie 21 partielle et délétions et duplications des régions 16p11.2 et 17q21.31

    • Thomas Arbogast

    HAL

  • Insect Cells–Baculovirus System for the Production of Difficult to Express Proteins

    • Judit Osz-Papai
    • Laura Radu
    • Wassim Abdulrahman
    • Isabelle Kolb-Cheynel
    • Nathalie Troffer-Charlier
    • Catherine Birck
    • Arnaud Poterszman

    Springer New York ; Page: 181-205

    DOI

  • Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

    • Johann Böhm
    • Valerie Biancalana
    • Edoardo Malfatti
    • Nicolas Dondaine
    • Catherine Koch
    • Nasim Vasli
    • Wolfram Kress
    • Matthias Strittmatter
    • Ana Lía Taratuto
    • Hernan Gonorazky
    • Pascal Laforet
    • Thierry Maisonobe
    • Montse Olivé
    • Laura González-Mera
    • Michel Fardeau
    • Nathalie Carrière
    • Pierre Clavelou
    • Bruno Eymard
    • Marc Bitoun
    • John Rendu
    • ...

    Brain - A Journal of Neurology ; Volume: 137 ; Page: 3160-3170

    HAL DOI

  • Assessing quality standards for ChIP-seq and related massive parallel sequencing-generated datasets: When rating goes beyond avoiding the crisis

    • Marco Antonio Mendoza-Parra
    • Hinrich Gronemeyer

    Genomics Data ; Volume: 2 ; Page: 268-273

    HAL DOI

  • RETRACTED ARTICLE: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

    • Renate Hukema
    • Fréderike Riemslagh
    • Shamiram Melhem
    • Herma van Der Linde
    • Lies-Anne Wfm Severijnen
    • Dieter Edbauer
    • Alex Maas
    • Nicolas Charlet-Berguerand
    • Rob Willemsen
    • John van Swieten

    Acta Neuropathologica Communications ; Volume: 2

    HAL DOI

  • The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

    • Chantal Sellier
    • Karen Usdin
    • Chiara Pastori
    • Veronica Peschansky
    • Flora Tassone
    • Nicolas Charlet-Berguerand

    Journal of Neurodevelopmental Disorders ; Volume: 6

    HAL DOI

  • FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

    • Ronald Am Buijsen
    • Chantal Sellier
    • Lies-Anne Wfm Severijnen
    • Mustapha Oulad-Abdelghani
    • Rob Fm Verhagen
    • Robert Berman
    • Nicolas Charlet-Berguerand
    • Rob Willemsen
    • Renate Hukema

    Acta Neuropathologica Communications ; Volume: 2

    HAL DOI

  • Myofiber Androgen Receptor Promotes Maximal Mechanical Overload-Induced Muscle Hypertrophy and Fiber Type Transition in Male Mice

    • Arnaud Ferry
    • Melanie Schuh
    • Ara Parlakian
    • Takouhie Mgrditchian
    • Nicolas Valnaud
    • Pierre Joanne
    • Gillian Butler-Browne
    • Onnik Agbulut
    • Daniel Metzger

    Endocrinology ; Volume: 155 ; Page: 4739-4748

    HAL DOI