Publications scientifiques

Publications

• 2022

  • Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

    • Nicolas Bourgon
    • Aurore Garde
    • Ange-Line Bruel
    • Mathilde Lefebvre
    • Frederic Tran Mau-Them
    • Sebastien Moutton
    • Arthur Sorlin
    • Sophie Nambot
    • Julian Delanne
    • Martin Chevarin
    • Charlotte Pöe
    • Julien Thevenon
    • Daphné Lehalle
    • Nolween Jean-Marçais
    • Paul Kuentz
    • Laetitia Lambert
    • Salima El Chehadeh
    • Elise Schaefer
    • Marjolaine Willems
    • Fanny Laffargue
    • ...

    European Journal of Human Genetics ; Volume: 30 ; Page: 967-975

    HAL DOI

  • AAV‐delivered diacylglycerol kinase DGKk achieves long‐term rescue of fragile X syndrome mouse model

    • Karima Habbas
    • Oktay Cakil
    • Boglárka Zámbó
    • Ricardos Tabet
    • Fabrice Riet
    • Doulaye Dembele
    • Jean‐louis Mandel
    • Michaël Hocquemiller
    • Ralph Laufer
    • Françoise Piguet
    • Hervé Moine

    EMBO Molecular Medicine ; Volume: 14

    HAL DOI

  • Thienoguanosine brightness in DNA duplexes is governed by the localization of itsππ* excitation in the lowest energy absorption band

    • Stefano Ciaco
    • Krishna Gavvala
    • Vanille Greiner
    • Viola Mazzoleni
    • Pascal Didier
    • Marc Ruff
    • Lara Martinez-Fernandez
    • Roberto Improta
    • Yves Mély

    Methods and Applications in Fluorescence ; Volume: 10

    HAL DOI

  • Formation of thyroid hormone revealed by a cryo-EM structure of native bovine thyroglobulin

    • Nils Marechal
    • Banyuhay P. Serrano
    • Xinyan Zhang
    • Charles J. Weitz

    Nature Communications ; Volume: 13

    HAL DOI

  • Multimodality imaging of breast hematomas and their mimickers

    • Sébastien Molière

    British Journal of Radiology ; Volume: 95

    HAL DOI

  • Rapid assembly of a polar network architecture drives efficient actomyosin contractility

    • Vlad Costache
    • Serena Prigent Garcia
    • Camille N Plancke
    • Jing Li
    • Simon Begnaud
    • Shashi Kumar Suman
    • Anne-Cécile Reymann
    • Taeyoon Kim
    • François B Robin

    Cell Reports ; Volume: 39 ; Page: 110868

    HAL DOI

  • Safety and efficacy of subcutaneous night-time only apomorphine infusion to treat insomnia in patients with Parkinson’s disease (APOMORPHEE): a multicentre, randomised, controlled, double-blind crossover study

    • Valérie Cochen de Cock
    • Pauline Dodet
    • Smaranda Leu-Semenescu
    • Cécile Aerts
    • Giovanni Castelnovo
    • Beatriz Abril
    • Sophie Drapier
    • Hélène Olivet
    • Anne-Gaëlle Corbillé
    • Laurène Leclair-Visonneau
    • Magali Sallansonnet-Froment
    • Marie Lebouteux
    • Mathieu Anheim
    • Elisabeth Ruppert
    • Nicolas Vitello
    • Alexandre Eusebio
    • Isabelle Lambert
    • Ana Luísa Marques
    • Maria Livia Fantini
    • David Devos
    • ...

    The Lancet Neurology ; Volume: 21 ; Page: 428-437

    HAL DOI

  • Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper

    • Justine Bacchetta
    • Thomas Edouard
    • Gilles Laverny
    • Julie Bernardor
    • Aurelia Bertholet-Thomas
    • Mireille Castanet
    • Charlotte Garnier
    • Isabelle Gennero
    • Jérôme Harambat
    • Alexandre Lapillonne
    • Arnaud Molin
    • Catherine Naud
    • J.P. Salles
    • Sophie Laborie
    • Patrick Tounian
    • Agnès Linglart

    Archives de Pédiatrie ; Volume: 29 ; Page: 312-325

    HAL DOI

  • In situ artificial contact sites (ISACS) between synthetic and endogenous organelle membranes allow for quantification of protein-tethering activities

    • Julie Milanini
    • Maud Magdeleine
    • Nicolas Fuggetta
    • Souade Ikhlef
    • Frédéric Brau
    • Sophie Abelanet
    • Fabien Alpy
    • Catherine Tomasetto
    • Guillaume Drin

    Journal of Biological Chemistry ; Volume: 298 ; Page: 101780

    HAL DOI

  • 1-Hydroxy-2(1H)-pyridinone-Based Chelators with Potential Catechol O-Methyl Transferase Inhibition and Neurorescue Dual Action against Parkinson’s Disease

    • Joseph Bergin
    • Kean Kan Tan
    • Anya Nelson
    • Cristina-Andreea Amarandei
    • Véronique Hubscher-Bruder
    • Jérémy Brandel
    • Varvara Voinarovska
    • Annick Dejaegere
    • Roland Stote
    • David Tétard

    Molecules ; Volume: 27 ; Page: 2816

    HAL DOI