Publications scientifiques

Publications

• 2022

  • Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

    • Pierre‐yves Maillard
    • Sarah Baer
    • Élise Schaefer
    • Béatrice Desnous
    • Nathalie Villeneuve
    • Anne Lépine
    • Alexandre Fabre
    • Caroline Lacoste
    • Salima El Chehadeh
    • Amélie Piton
    • Louise Frances Porter
    • Caroline Perriard
    • Marie‐thérèse Abi Wardé
    • Marie‐aude Spitz
    • Vincent Laugel
    • Gaëtan Lesca
    • Audrey Putoux
    • Dorothée Ville
    • Cyril Mignot
    • Delphine Héron
    • ...

    Epilepsia ; Volume: 63 ; Page: 2519-2533

    HALDOI

  • Context-dependent transcriptional remodeling of TADs during differentiation

    • Sanjay Chahar
    • Yousra Ben Zouari
    • Hossein Salari
    • Anne Molitor
    • Dominique Kobi
    • Manon Maroquenne
    • Cathie Erb
    • Audrey Mossler
    • Nezih Karasu
    • Daniel Jost
    • Tom Sexton

    HALDOI

  • Novel cell- and stage-specific transcriptional signatures defining Drosophila neurons, glia and hemocytes

    • Rosy Sakr
    • Pierre Cattenoz
    • Alexia Pavlidaki
    • Laura Ciapponi
    • Marta Marzullo
    • Nivedita Hariharan
    • Tina Mukherjee
    • Angela Giangrande

    HALDOI

  • CaMK1D signaling in AgRP neurons promotes ghrelin-mediated food intake

    • Kevin Vivot
    • Gergö Meszaros
    • Zhirong Zhang
    • Eric Erbs
    • Gagik Yeghiazaryan
    • Mar Quiñones
    • Erwan Grandgirard
    • Anna Schneider
    • Etienne Clauss--Creusot
    • Alexandre Charlet
    • Maya Faour
    • Claire Martin
    • Serge Luquet
    • Peter Kloppenburg
    • Ruben Nogueiras
    • Romeo Ricci

    HAL

  • Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model

    • Paula Samsó
    • Philipp A. Koch
    • York Posor
    • Wen-Ting Lo
    • Hassane Belabed
    • Marc Nazare
    • Jocelyn Laporte
    • Volker Haucke

    Proceedings of the National Academy of Sciences ; Volume: 119

    HALDOI

  • Design and in vitro characterization of RXR variants as tools to investigate the biological role of endogenous rexinoids

    • Albane Le Maire
    • Martial Rey
    • Valérie Vivat
    • Laura Guée
    • Pauline Blanc
    • Christian Malosse
    • Julia Chamot-Rooke
    • Pierre Germain
    • William Bourguet

    Journal of Molecular Endocrinology ; Volume: 69 ; Page: 377-390

    HALDOI

  • From the Muscle Atlas to an AI-based diagnostic tool

    • C Meyer
    • E Lacene
    • M Beuvin
    • T Evangelista
    • J Laporte
    • A Jeannin-Girardon
    • P Collet
    • O Poch
    • N Romero
    • K Chennen
    • B Cadot

    HAL

  • Mechanical control of tissue shape: Cell-extrinsic and -intrinsic mechanisms join forces to regulate morphogenesis

    • Hélène Vignes
    • Christina Vagena-Pantoula
    • Julien Vermot

    Seminars in Cell and Developmental Biology ; Volume: 130 ; Page: 45-55

    HALDOI

  • Backbone and side chain NMR assignments for the ribosome maturation factor P (RimP) from Staphylococcus aureus

    • Natalia S. Garaeva
    • Aydar G. Bikmullin
    • Bulat Fatkhullin
    • Shamil Z. Validov
    • Bruno Kieffer
    • Marat Yusupov
    • Konstantin S. Usachev

    Biomolecular NMR Assignments ; Volume: 16 ; Page: 373-377

    HALDOI

  • Disruption of striatal dopaminergic pathway: A new plot twist in dystonia genetic story

    • Thomas Wirth

    Revue Neurologique ; Volume: 178 ; Page: 751-753

    HALDOI