Publications scientifiques

Publications

• 2024

  • Ocular manifestations in Koolen–de Vries syndrome: an international study

    • Dafna Shalev
    • David Koolen
    • Bert B.A. de Vries
    • Sharon Blum Meirovitch
    • Jean-Louis Mandel
    • Pauline Burger
    • Alik Rosenfeld
    • Guy Ben Simon
    • Daphna Landau Prat

    Canadian Journal of Ophthalmology ; Volume: 59 ; Page: e796-e802

    HAL DOI

  • Potential compensatory mechanisms preserving cardiac function in myotubular myopathy

    • Alix Simon
    • Nadege Diedhiou
    • David Reiss
    • Marie Goret
    • Erwan Grandgirard
    • Jocelyn Laporte

    Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476

    HAL DOI

  • Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

    • Tanja Zdolšek Draksler
    • Arianne Bouman
    • Alenka Guček
    • Erik Novak
    • Pauline Burger
    • Florent Colin
    • Tjitske Kleefstra

    European Journal of Medical Genetics ; Volume: 72 ; Page: 104974

    HAL DOI

  • First Sila-Vitamin D Analogues: Design, Synthesis, Structural Analysis and Biological Activity

    • Julian Loureiro
    • Samuel Seoane
    • Ivo Sampaio-Dias
    • Carole Peluso-Iltis
    • Thierry Guiberteau
    • Beatriz Brito
    • Carlos Gregorio
    • Román Pérez-Fernández
    • Natacha Rochel
    • Antonio Mouriño
    • José Rodríguez-Borges

    Journal of Medicinal Chemistry ; Volume: 67 ; Page: 21505-21519

    HAL DOI

  • Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome

    • Efil Bayam
    • Peggy Tilly
    • Stephan Collins
    • José Rivera Alvarez
    • Meghna Kannan
    • Lucile Tonneau
    • Elena Brivio
    • Bruno Rinaldi
    • Romain Lecat
    • Noémie Schwaller
    • Ludovica Cotellessa
    • Sateesh Maddirevula
    • Fabiola Monteiro
    • Carlos Guardia
    • João Paulo Kitajima
    • Fernando Kok
    • Mitsuhiro Kato
    • Ahlam Hamed
    • Mustafa Salih
    • Saeed Al Tala
    • ...

    EMBO Molecular Medicine ; Volume: 17 ; Page: 129-168

    HAL DOI

  • MODOMICS: a database of RNA modifications and related information. 2023 update

    • Andrea Cappannini
    • Angana Ray
    • Elżbieta Purta
    • Sunandan Mukherjee
    • Pietro Boccaletto
    • S Naeim Moafinejad
    • Antony Lechner
    • Charles Barchet
    • Bruno P. Klaholz
    • Filip Stefaniak
    • Janusz M Bujnicki

    Nucleic Acids Research ; Volume: 52 ; Page: D239 - D244

    HAL DOI

  • Remodelling of Rea1 linker domain drives the removal of assembly factors from pre-ribosomal particles

    • Johan Busselez
    • Geraldine Koenig
    • Carine Dominique
    • Torben Klos
    • Deepika Velayudhan
    • Piotr Sosnowski
    • Nils Marechal
    • Corinne Crucifix
    • Hugo Gizardin-Fredon
    • Sarah Cianferani
    • Benjamin Albert
    • Yves Henry
    • Anthony K Henras
    • Helgo Schmidt

    Nature Communications ; Volume: 15 ; Page: 10309

    HAL DOI

  • HIV-1 budding requires cortical actin disassembly by the oxidoreductase MICAL1

    • Thomas Serrano
    • Nicoletta Casartelli
    • Foad Ghasemi
    • Hugo Wioland
    • Frédérique Cuvelier
    • Audrey Salles
    • Maryse Moya-Nilges
    • Lisa Welker
    • Serena Bernacchi
    • Marc Ruff
    • Antoine Jégou
    • Guillaume Romet-Lemonne
    • Olivier Schwartz
    • Stéphane Frémont
    • Arnaud Echard

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121 ; Page: 112744

    HAL DOI

  • Evolutionary conservation of the Gcm/Glide cascade: of glia and beyond

    • Sara Monticelli
    • Angela Giangrande

    HAL

  • Le tamoxifène, une molécule à fort potentiel thérapeutique pour toutes les myopathies centronucléaires, Tamoxifen, a high-potential molecule to treat all centronuclear myopathies

    • Charlotte Gineste
    • Jocelyn Laporte

    Médecine/Sciences ; Volume: 40 ; Page: 34-39

    HAL DOI