Scientific publications

Publications

• 2024

  • Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions, Clés cliniques et génétiques de l'ataxie cérébelleuse causée par des expansions GAA de FGF14

    • Jean-Loup Méreaux
    • Claire-Sophie Davoine
    • David Pellerin
    • Giulia Coarelli
    • Marie Coutelier
    • Claire Ewenczyk
    • Marie-Lorraine Monin
    • Mathieu Anheim
    • Isabelle Le Ber
    • Stéphane Thobois
    • Florent Gobert
    • Léna Guillot-Noël
    • Sylvie Forlani
    • Ludmila Jornea
    • Anna Heinzmann
    • Aude Sangare
    • Bertrand Gaymard
    • Lucie Guyant-Maréchal
    • Perrine Charles
    • Cecilia Marelli
    • ...

    EBioMedicine ; Volume: 99 ; Page: 104931

    HAL DOI

  • Fast Ultrasound Scanning is a Rapid, Sensitive, Precise and Cost-Effective Method to Monitor Tumor Grafts in Mice

    • Sébastien Molière
    • Arthur Martinet
    • Amélie Jaulin
    • Massimo Lodi
    • Thiên-Nga Chamaraux-Tran
    • Fabien Alpy
    • Guillaume Bierry
    • Catherine-Laure Tomasetto

    Journal of Mammary Gland Biology and Neoplasia ; Volume: 29 ; Page: 2

    HAL DOI

  • A Homozygous <i>NDUFS6</i> Variant Associated with Neuropathy and Optic Atrophy

    • Andrea Gangfuß
    • Philipp Rating
    • Tomas Ferreira
    • Andreas Hentschel
    • Adela Della Marina
    • Heike Kölbel
    • Albert Sickmann
    • Angela Abicht
    • Florian Kraft
    • Tobias Ruck
    • Johann Böhm
    • Anne Schänzer
    • Ulrike Schara-Schmidt
    • Teresa M Neuhann
    • Rita Horvath
    • Andreas Roos

    Journal of Neuromuscular Diseases ; Volume: 11 ; Page: 485 - 491

    HAL DOI

  • A genetic screen to uncover mechanisms underlying lipid transfer protein function at membrane contact sites

    • Shirish Mishra
    • Vaishnavi Manohar
    • Shabnam Chandel
    • Tejaswini Manoj
    • Subhodeep Bhattacharya
    • Nidhi Hegde
    • Vaisaly R. Nath
    • Harini Krishnan
    • Corinne Wendling
    • Thomas Di Mattia
    • Arthur Martinet
    • Prasanth Chimata
    • Fabien Alpy
    • Padinjat Raghu

    Life Science Alliance ; Volume: 7 ; Page: e202302525

    HAL DOI

  • Elaboration and rheological characterization of nanocomposite hydrogels containing C 60 fullerene nanoplatelets

    • Théo Merland
    • Mathieu Berteau
    • Marc Schmutz
    • Stéphanie Legoupy
    • Taco Nicolai
    • Lazhar Benyahia
    • Christophe Chassenieux

    Soft Matter ; Volume: 20 ; Page: 848-855

    HAL DOI

  • Hyperglycemia and circadian disruption lead to retinal dysfunction in a stabilized colony of the fat sand rat Psammomys obesus

    • Catherine Estay-Ahumada
    • Daniela Verra
    • Michel Roux
    • Fabiana Sassone
    • Marie-Paule Felder-Schmittbuhl
    • Christophe Klopp
    • Dominique Ciocca
    • Myriam Ly-Le Moal
    • David Hicks

    Biochimica et Biophysica Acta - Molecular Basis of Disease ; Volume: 1870 ; Page: 167118

    HAL DOI

  • 4-Hydroxy-1α,25-Dihydroxyvitamin D$_3$: Synthesis and Structure–Function Study

    • Carole Peluso-Iltis
    • Noé Pierrat
    • Daniela Rovito
    • Judit Osz
    • Daisuke Sawada
    • Atsushi Kittaka
    • Gilles Laverny
    • Natacha Rochel

    Biomolecules ; Volume: 14 ; Page: 551

    HAL DOI

  • Structural Insights into Ciona intestinalis Septins: Complexes Suggest a Mechanism for Nucleotide-dependent Interfacial Cross-talk

    • Deborah Mendonça
    • Sinara T.B. Morais
    • Heloísa Ciol
    • Andressa P.A. Pinto
    • Diego Leonardo
    • Humberto D’muniz Pereira
    • Napoleão Valadares
    • Rodrigo Portugal
    • Bruno P. Klaholz
    • Richard Garratt
    • Ana P.U. Araujo

    Journal of Molecular Biology ; Volume: 436 ; Page: 168693

    HAL DOI

  • IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa

    • Corentin Meyer
    • Norma Romero
    • Teresinha Evangelista
    • Brunot Cadot
    • Jocelyn Laporte
    • Anne Jeannin-Girardon
    • Pierre Collet
    • Kirsley Chennen
    • Olivier Poch

    Journal of Neuromuscular Diseases ; Page: Online ahead of print

    HAL DOI

  • The COL6A5-p.Glu2272* mutation induces chronic itch in mice

    • Ameer Abu Bakr Rasheed
    • Marie-Christine Birling
    • Giuseppe Lauria
    • Claire Gaveriaux-Ruff
    • Yann Hérault

    Mammalian Genome ; Volume: 35 ; Page: 122-134

    HAL DOI