Publications scientifiques

Publications

• 2024

  • The role of DEAD- and DExH-box RNA helicases in neurodevelopmental disorders

    • Johannes Lederbauer
    • Sarada Das
    • Amélie Piton
    • Davor Lessel
    • Hans-Jürgen Kreienkamp

    Frontiers in Molecular Neuroscience ; Volume: 17 ; Page: 1414949

    HAL DOI

  • The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders

    • Lizan Stinissen
    • Sietse Bouma
    • Johann Böhm
    • Jeno van Tienen
    • Holger Fischer
    • Zak Hughes
    • Anne Lennox
    • Erin Ward
    • Marie Wood
    • A Reghan Foley
    • Wija Oortwijn
    • Heinz Jungbluth
    • Nicol C Voermans

    Neuromuscular Disorders ; Volume: 38 ; Page: 1-7

    HAL DOI

  • Time-resolved crystallography of boric acid binding to the active site serine of the β-lactamase CTX-M-14 and subsequent 1,2-diol esterification

    • Andreas Prester
    • Markus Perbandt
    • Marina Galchenkova
    • Dominik Oberthuer
    • Nadine Werner
    • Alessandra Henkel
    • Julia Maracke
    • Oleksandr Yefanov
    • Johanna Hakanpää
    • Guillaume Pompidor
    • Jan Meyer
    • Henry Chapman
    • Martin Aepfelbacher
    • Winfried Hinrichs
    • Holger Rohde
    • Christian Betzel

    Communications Chemistry ; Volume: 7 ; Page: 152

    HAL DOI

  • Structural basis of DNA crossover capture by Escherichia coli DNA gyrase

    • Marlène Vayssières
    • Nils Marechal
    • Long Yun
    • Brian Lopez Duran
    • Naveen Kumar Murugasamy
    • Jonathan Fogg
    • Lynn Zechiedrich
    • Marc Nadal
    • Valérie Lamour

    Science ; Volume: 384 ; Page: 227-232

    HAL DOI

  • High risk of lung cancer in surfactant-related gene variant carriers

    • Alexandre Brudon
    • Marie Legendre
    • Arthur Mageau
    • Julien Bermudez
    • Philippe Bonniaud
    • Diane Bouvry
    • Jacques Cadranel
    • Aurélie Cazes
    • Bruno Crestani
    • Tristan Degot
    • Céline Delestrain
    • Rémi Diesler
    • Ralph Epaud
    • Quentin Philippot
    • Nathalie Theou-Anton
    • Caroline Kannengiesser
    • Ibrahima Ba
    • Marie-Pierre Debray
    • Pascale Fanen
    • Efrosine Manali
    • ...

    European Respiratory Journal ; Volume: 63 ; Page: 2301809

    HAL DOI

  • Speech and language in DDX3X ‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

    • Elana J Forbes
    • Lottie D Morison
    • Fatma Lelik
    • Tegan Howell
    • Simone Debono
    • Himanshu Goel
    • Pauline Burger
    • Jean‐louis Mandel
    • David Geneviève
    • David J Amor
    • Angela T Morgan

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    HAL DOI

  • Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    • Viorica Chelban
    • Henriette Aksnes
    • Reza Maroofian
    • Lauren C Lamonica
    • Luis Seabra
    • Anette Siggervåg
    • Perrine Devic
    • Hanan E Shamseldin
    • Jana Vandrovcova
    • David Murphy
    • Anne-Claire Richard
    • Olivier Quenez
    • Antoine Bonnevalle
    • M. Natalia Zanetti
    • Rauan Kaiyrzhanov
    • Vincenzo Salpietro
    • Stephanie Efthymiou
    • Lucia V Schottlaender
    • Heba Morsy
    • Annarita Scardamaglia
    • ...

    Nature Communications ; Volume: 15 ; Page: 2269

    HAL DOI

  • Anti-RGS8 paraneoplastic cerebellar ataxia is preferentially associated with a particular subtype of Hodgkin’s lymphoma

    • Elise Peter
    • Nicolas Lundahl Ciano-Petersen
    • Le-Duy Do
    • Jimmy Perrot
    • Thomas Ngo
    • John Pluvinage
    • Christopher Bartley
    • Kelsey Zorn
    • Ramona Miske
    • Madeleine Scharf
    • Macarena Villagrán-García
    • Antonio Farina
    • Véronique Rogemond
    • Jean-Christophe Antoine
    • Christine Tranchant
    • Valérie Dubois
    • Joseph Derisi
    • Samuel Pleasure
    • Michael Wilson
    • Jeffrey Gelfand
    • ...

    Journal of Neurology ; Volume: 271 ; Page: 6839-6846

    HAL DOI

  • Integrated Experimental and Theoretical Investigation of Copper Active Site Properties of a Lytic Polysaccharide Monooxygenase from Serratia marcescens

    • Alessia Munzone
    • Manon Pujol
    • Chris Joseph
    • Ievgen Mazurenko
    • Marius Réglier
    • Sergio Jannuzzi
    • Antoine Royant
    • Giuseppe Sicoli
    • Serena Debeer
    • Maylis Orio
    • A. Jalila Simaan
    • Christophe Decroos

    Inorganic Chemistry ; Page: Online ahead of print

    HAL DOI

  • i-Dent: A virtual assistant to diagnose rare genetic dental diseases

    • Hocine Kadi
    • Marzena Kawczynski
    • Sara Bendjama
    • Jesus Zegarra Flores
    • Audrey Leong-Hoi
    • Hugues de Lastic
    • Julien Balbierer
    • Claire Mabileau
    • Jean Pierre Radoux
    • Bruno Grollemund
    • Jean Jaegle
    • Christophe Guébert
    • Bertrand Bisch
    • Agnès Bloch-Zupan

    Computers in Biology and Medicine ; Volume: 180 ; Page: 108927

    HAL DOI