Scientific publications

Publications

• 2023

  • Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions

    • Philip Harrer
    • Audrey Schalk
    • Masaru Shimura
    • Sarah Baer
    • Nadege Calmels
    • Marie Aude Spitz
    • Marie-Thérèse Abi Warde
    • Elise Schaefer
    • Volker M. Sc Kittke
    • Yasemin Dincer
    • Matias Wagner
    • Ivana Dzinovic
    • Riccardo Berutti
    • Tatsuharu Sato
    • Toshihiko Shirakawa
    • Yasushi Okazaki
    • Kei Murayama
    • Konrad Oexle
    • Holger Prokisch
    • Volker Mall
    • ...

    Annals of Neurology ; Volume: 93 ; Page: 330-335

    HAL DOI

  • Gut microbiota remodeling and intestinal adaptation to lipid malabsorption after enteroendocrine cell loss in adult mice

    • Florence Blot
    • Justine Marchix
    • Miriam Ejarque
    • Sara Jimenez
    • Aline Meunier
    • Céline Keime
    • Camille Trottier
    • Mikaël Croyal
    • Céline Lapp
    • Maxime Mahe
    • Adèle de Arcangelis
    • Gérard Gradwohl

    Cellular and Molecular Gastroenterology and Hepatology

    HAL DOI

  • The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

    • Mira Brazane
    • Dilyana Dimitrova
    • Julien Pigeon
    • Chiara Paolantoni
    • Tao Ye
    • Virginie Marchand
    • Bruno da Silva
    • Elise Schaefer
    • Margarita Angelova
    • Zornitza Stark
    • Martin Delatycki
    • Tracy Dudding-Byth
    • Jozef Gecz
    • Pierre-Yves Plaçais
    • Laure Teysset
    • Thomas Préat
    • Amélie Piton
    • Bassem Hassan
    • Jean-Yves Roignant
    • Yuri Motorin
    • ...

    Life Science Alliance ; Volume: 6 ; Page: e202201877

    HAL DOI

  • New insights into the centrosome‐associated spliceosome components as regulators of ciliogenesis and tissue identity

    • Johan Busselez
    • Rustem Uzbekov
    • Brunella Franco
    • Massimo Pancione

    Wiley Interdisciplinary Reviews-RNA ; Volume: 14

    HAL DOI

  • Study of the relation between actin architecture, molecular content and cell identity throughout the early embryogenesis of C. elegans, Étude des relations entre architectures d’actine, contenu moléculaire et identité cellulaire au cours de l’embryogénèse précoce de C. elegans

    • Grégoire Mathonnet

    HAL

  • Protein Microarray-Guided Development of a Highly Sensitive and Specific Dipstick Assay for Glanders Serodiagnostics

    • Gabriel Wagner
    • Andreas Berner
    • Michaela Lipp
    • Christian Kohler
    • Karoline Assig
    • Sabine Lichtenegger
    • Muhammad Saqib
    • Elke Müller
    • Trung Trinh
    • Anne-Marie Gad
    • Hans Hermann Söffing
    • Ralf Ehricht
    • Karine Laroucau
    • Ivo Steinmetz

    Journal of Clinical Microbiology ; Volume: 61 ; Page: e0123422

    HAL DOI

  • Mitotic chromosome condensation resets chromatin to safeguard transcriptional homeostasis during interphase

    • Lucía Ramos-Alonso
    • Petter Holland
    • Stéphanie Le Gras
    • Xu Zhao
    • Bernard Jost
    • Magnar Bjørås
    • Yves Barral
    • Jorrit Enserink
    • Pierre Chymkowitch

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 120

    HAL DOI

  • Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion

    • Yifei Yang
    • Sam A Booker
    • James M Clegg
    • Idoia Quintana-Urzainqui
    • Anna Sumera
    • Zrinko Kozic
    • Owen Dando
    • Sandra Martin Lorenzo
    • Yann Hérault
    • Peter C Kind
    • David J Price
    • Thomas Pratt

    BMC Neuroscience ; Volume: 24 ; Page: 5

    HAL DOI

  • Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties

    • Chiara Dionisi
    • Marine Chazalon
    • Myriam Rai
    • Céline Keime
    • Virginie Imbault
    • David Communi
    • Hélène Puccio
    • Serge Schiffmann
    • Massimo Pandolfo

    Brain Communications ; Volume: 5

    HAL DOI

  • Editorial: Epigenetics of metabolism, immunology and aging

    • Hailuan Zeng
    • Xiaofan Lu
    • Heng Sun
    • Haitao Wang

    Frontiers in Genetics ; Volume: 14

    HAL DOI