Scientific publications

Publications

• 2020

  • Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

    • Sandra Donkervoort
    • Carl Kutzner
    • Ying Hu
    • Xavière Lornage
    • John Rendu
    • Tanya Stojkovic
    • Jonathan Baets
    • Sarah Neuhaus
    • Jantima Tanboon
    • Reza Maroofian
    • Véronique Bolduc
    • Magdalena Mroczek
    • Stefan Conijn
    • Nancy Kuntz
    • Ana Töpf
    • Soledad Monges
    • Fabiana Lubieniecki
    • Riley Mccarty
    • Katherine Chao
    • Serena Governali
    • ...

    American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095

    HAL DOI

  • Dichloromethane Degradation Pathway from Unsequenced Hyphomicrobium sp. MC8b Rapidly Explored by Pan-Proteomics

    • Karim Hayoun
    • Emilie Geersens
    • Cédric C Laczny
    • Rashi Halder
    • Carmen Lázaro Sánchez
    • Abhijit Manna
    • Françoise Bringel
    • Michaël Ryckelynck
    • Paul Wilmes
    • Emilie Muller
    • Béatrice Alpha-Bazin
    • Jean Armengaud
    • Stéphane Vuilleumier

    Microorganisms ; Volume: 8

    HAL DOI

  • An Integrated Analysis of miRNA and Gene Expression Changes in Response to an Obesogenic Diet to Explore the Impact of Transgenerational Supplementation with Omega 3 Fatty Acids

    • Karla Fabiola Corral-Jara
    • Laura Cantini
    • Nathalie Poupin
    • Tao Ye
    • Jean-Paul Rigaudière
    • Sarah de Saint Vincent
    • Alexandre Pinel
    • Béatrice Morio
    • Frédéric Capel

    Nutrients ; Volume: 12 ; Page: 3864

    HAL DOI

  • FFAT motif phosphorylation controls formation and lipid transfer function of inter‐organelle contacts

    • Thomas Di Mattia
    • Arthur Martinet
    • Souade Ikhlef
    • Alastair G Mcewen
    • Yves Nominé
    • Corinne Wendling
    • Pierre Poussin‐courmontagne
    • Laetitia Voilquin
    • Pascal Eberling
    • Frank Ruffenach
    • Jean Cavarelli
    • John Slee
    • Timothy P Levine
    • Guillaume Drin
    • Catherine Tomasetto
    • Fabien Alpy

    EMBO Journal ; Volume: 39

    HAL DOI

  • Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

    • Alexey Epanchintsev
    • Marc-Alexander Rauschendorf
    • Federico Costanzo
    • Nadege Calmels
    • Cathy Obringer
    • Alain Sarasin
    • Frédéric Coin
    • Vincent Laugel
    • Jean‐marc Egly

    Scientific Reports ; Volume: 10 ; Page: 1105

    HAL DOI

  • Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia

    • Cyril Atkinson-Clement
    • Clement Tarrano
    • Camille-Albane Porte
    • Nicolas Wattiez
    • Cécile Delorme
    • Eavan Mcgovern
    • Vanessa Brochard
    • Stéphane Thobois
    • Christine Tranchant
    • David Grabli
    • Bertrand Degos
    • Jean-Christophe Corvol
    • Jean-Michel Pedespan
    • Pierre Krystkoviak
    • Jean-Luc Houeto
    • Adrian Degardin
    • Luc Defebvre
    • Romain Valabregue
    • Charlotte Rosso
    • Emmanuelle Apartis
    • ...

    Scientific Reports ; Volume: 10

    HAL DOI

  • In TFIIH the Arch domain of XPD is mechanistically essential for transcription and DNA repair

    • Stefan Peissert
    • Florian Sauer
    • Daniel Grabarczyk
    • Cathy Braun
    • Gudrun Sander
    • Arnaud Poterszman
    • Jean-Marc Egly
    • Jochen Kuper
    • Caroline Kisker

    Nature Communications ; Volume: 11 ; Page: 1667

    HAL DOI

  • Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia

    • Cyril Atkinson-Clement
    • Clément Tarrano
    • Camille-Albane Porte
    • Nicolas Wattiez
    • Cecile Delorme
    • Eavan Mcgovern
    • Vanessa Brochard
    • Stéphane Thobois
    • Christine Tranchant
    • David Grabli
    • Bertrand Degos
    • Jean Christophe Corvol
    • Jean Michel Pedespan
    • Pierre Krystkoviak
    • Jean-Luc Houeto
    • Adrian Degardin
    • Luc Defebvre
    • Romain Valabregue
    • Charlotte Rosso
    • Emmanuelle Apartis
    • ...

    Scientific Reports ; Volume: 10

    HAL DOI

  • Etude fonctionnelle et structurale des ADN topoisomérases de type II et de leurs modifications post-traductionnelles, Functional and structural study of type II DNA topoisomerases and their post-translational modifications

    • Christophe Lotz

    HAL

  • Local retinoic acid signaling directs emergence of the extraocular muscle functional unit

    • Glenda Evangelina Comai
    • Markéta Tesařová
    • Valerie Dupé
    • Muriel Rhinn
    • Pedro Vallecillo-García
    • Fabio da Silva
    • Betty Feret
    • Katherine Exelby
    • Pascal Dollé
    • Leif Carlsson
    • Brian Pryce
    • François Spitz
    • Sigmar Stricker
    • Tomáš Zikmund
    • Jozef Kaiser
    • James Briscoe
    • Andreas Schedl
    • Norbert B. Ghyselinck
    • Ronen Schweitzer
    • Shahragim Tajbakhsh

    PLoS Biology ; Volume: 18 ; Page: e3000902

    HAL DOI