Publications scientifiques

Publications

• 2018

  • A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

    • Macarena Cabrera-Serrano
    • Fabiola Mavillard
    • Valerie Biancalana
    • Eloy Rivas
    • Bharti Morar
    • Aurelio Hernandez-Lain
    • Montse Olive
    • Nuria Muelas
    • Eduardo Khan
    • Alejandra Carvajal
    • Pablo Quiroga
    • Jordi Diaz-Manera
    • Mark Davis
    • Rainiero Avila
    • Cristina Dominguez
    • Norma Romero
    • Juan Vilchez
    • David Comas
    • Nigel Laing
    • Jocelyn Laporte
    • ...

    Neurology ; Volume: 91 ; Page: 339-348

    HAL DOI

  • Global data and local action for wellbeing science: when 4P-medicine meets health self-assessment

    • Pierre Parrend
    • Arnaud Kress
    • Eric-André Sauleau
    • Anne Jeannin-Girardon
    • Florent Colin
    • Jean-Louis Mandel
    • Pierre Collet

    HAL

  • Role of Amyloid Precursor Protein (APP) and Its Derivatives in the Biology and Cell Fate Specification of Neural Stem Cells

    • Raquel Coronel
    • Adela Bernabeu-Zornoza
    • Charlotte Palmer
    • Maria del Mar Muniz Moreno
    • Alberto Zambrano
    • Eva Cano
    • Isabel Liste

    Molecular Neurobiology ; Volume: 55 ; Page: 7107-7117

    HAL DOI

  • Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

    • G. Iacono
    • A. Dubos
    • H. Meziane
    • M. Benevento
    • E. Habibi
    • A. Mandoli
    • F. Riet
    • M. Selloum
    • Robert Feil
    • H. Zhou
    • T. Kleefstra
    • N. N. Kasri
    • H. Van Bokhoven
    • Y. Herault
    • H. G. Stunnenberg

    Nucleic Acids Research ; Volume: 46 ; Page: 4950–4965

    HAL DOI

  • HOPE: Emergent solutions for analysis and management of patient cohort data

    • Arnaud Kress
    • Eric-André Sauleau
    • Anne Jeannin-Girardon
    • Florent Colin
    • Jean-Louis Mandel
    • Pierre Collet
    • Pierre Parrend

    HAL

  • Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    • Solveig Montaut
    • Christine Tranchant
    • Nathalie Drouot
    • Gabrielle Rudolf
    • Claire Guissart
    • Julien Tarabeux
    • Tristan Stemmelen
    • Amandine Velt
    • Cécile Fourrage
    • Patrick Nitschké
    • Bénédicte Gerard
    • Jean-Louis Mandel
    • Michel Koenig
    • Jamel Chelly
    • Mathieu Anheim
    • French Parkinson\textquoterights
    • Movement Disorders Consortium

    JAMA neurology ; Volume: 75 ; Page: 1234--1245

    HAL DOI

  • Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy

    • Suzie Buono
    • Jacob Ross
    • Hichem Tasfaout
    • Yotam Levy
    • Christine Kretz
    • Leighla Tayefeh
    • John Matson
    • Shuling Guo
    • Pascal Kessler
    • Brett Monia
    • Marc Bitoun
    • Julien Ochala
    • Jocelyn Laporte
    • Belinda Cowling

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 115 ; Page: 11066-11071

    HAL DOI

  • GENIDA, an international participative cohort study on genetic forms of intellectual disability and autism spectrum disorders: Analyses of Koolen-deVries, Kleefstra, KBG and MECP2 duplications syndromes

    • Florent Colin
    • Timothée Mazzucotelli
    • David A. Koolen
    • Tjitske Kleefstra
    • Hilde van Esch
    • Charlotte W. Ockeloen
    • Pierre Parrend
    • Jean-Louis Mandel

    HAL

  • Targeting Acidic Mammalian chitinase Is Effective in Animal Model of Asthma

    • Marzena Mazur
    • Jacek Olczak
    • Sylwia Olejniczak
    • Robret Koralewski
    • Wocjiech Czestkowski
    • Anna Jedrzejczak
    • Jakub Golab
    • Karolina Dzwonek
    • Barbara Dymek
    • Piotr Sklepkiewicz
    • Agnieszka Zagozdzon
    • Tom Noonan
    • Keyvan Mahboubi
    • Bruce Conway
    • Ryan Sheeler
    • Paul Beckett
    • William Hungerford
    • Alberto Podjarny
    • André Mitschler
    • Alexandra Cousido-Siah
    • ...

    Journal of Medicinal Chemistry ; Volume: 61 ; Page: 695-710

    HAL DOI

  • TRIM24 mediates the interaction of the retinoic acid receptor alpha with the proteasome

    • Marilyn Carrier
    • Régis Lutzing
    • Samia Gaouar
    • Céline Rochette-Egly

    FEBS Letters ; Volume: 592 ; Page: 1426-1433

    HAL DOI