Publications scientifiques

Publications

• 2020

  • Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

    • Mathilde Renaud
    • Christine Tranchant
    • Michel Koenig
    • Mathieu Anheim

    Movement Disorders ; Volume: 35 ; Page: 2139-2149

    HAL DOI

  • Structural Basis for α‐Helix Mimicry and Inhibition of Protein–Protein Interactions with Oligourea Foldamers

    • Léonie Cussol
    • Laura Mauran-Ambrosino
    • Jérémie Buratto
    • Anna Belorusova
    • Maxime Neuville
    • Judit Osz
    • Sébastien Fribourg
    • Juliette Fremaux
    • Christel Dolain
    • Sébastien Goudreau
    • Natacha Rochel
    • Gilles Guichard

    Angewandte Chemie International Edition ; Volume: 60 ; Page: 2296-2303

    HAL DOI

  • Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

    • Laure Asselin
    • José Rivera Alvarez
    • Solveig Heide
    • Camille Bonnet
    • Peggy Tilly
    • Hélène Vitet
    • Chantal Weber
    • Carlos Bacino
    • Kristin Baranaño
    • Anna Chassevent
    • Amy Dameron
    • Laurence Faivre
    • Neil Hanchard
    • Sonal Mahida
    • Kirsty Mcwalter
    • Cyril Mignot
    • Caroline Nava
    • Agnès Rastetter
    • Haley Streff
    • Christel Thauvin-Robinet
    • ...

    Nature Communications ; Volume: 11

    HAL DOI

  • µgreen-db: a reference database for the 23S rRNA gene of eukaryotic plastids and cyanobacteria

    • Christophe Djemiel
    • Damien Plassard
    • Sébastien Terrat
    • Olivier Crouzet
    • Joana Sauze
    • Samuel Mondy
    • Virginie Nowak
    • Lisa Wingate
    • Jérôme Ogée
    • Pierre-Alain Maron

    Scientific Reports ; Volume: 10 ; Page: 1-11

    HAL DOI

  • DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.

    • A. Bruel
    • B. Gerard
    • A. Piton
    • F. Tran Mau-Them
    • A. Sorlin
    • A. Sorly
    • D. Lacombe
    • S. Manouvrier
    • P. Edery
    • Nicole Philip
    • D. Genevieve
    • A. Verloes
    • S. Odent
    • J. Thevenon
    • A. Toutain
    • D. Bonneau
    • S. El Chehadeh
    • M. Doco-Fenzy
    • B. Isidor
    • A. Goldenberg
    • ...

    European Journal of Human Genetics ; Volume: 28 ; Page: 333-334

    HAL DOI

  • High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models

    • Brahim Belbellaa
    • Laurence Reutenauer
    • Nadia Messaddeq
    • Laurent Monassier
    • Hélène Puccio

    Molecular Therapy - Methods and Clinical Development ; Volume: 19 ; Page: 120-138

    HAL DOI

  • Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II)

    • Karim Zuhra
    • Theodora Panagaki
    • Elisa Randi
    • Fiona Augsburger
    • Marc Blondel
    • Gaelle Friocourt
    • Yann Herault
    • Csaba Szabo

    Biochemical Pharmacology ; Volume: 182 ; Page: 114267

    HAL DOI

  • 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