Publications scientifiques

Publications

• 2024

  • ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

    • R. Silva-Rojas
    • L. Pérez-Guàrdia
    • A. Simon
    • S. Djeddi
    • S. Treves
    • A. Ribes
    • L. Silva-Hernández
    • Celine Tard
    • J. Laporte
    • J. Böhm

    JCI Insight ; Volume: 9 ; Page: e174866

    HAL DOI

  • Phenotype variability and natural history of X-linked myopathy with excessive autophagy

    • Gorka Fernández-Eulate
    • Girolamo Alfieri
    • Marco Spinazzi
    • Isabelle Ackermann-Bonan
    • Fanny Duval
    • Guilhem Solé
    • Florence Caillon
    • Sandra Mercier
    • Yann Pereon
    • Armelle Magot
    • Antoine Pegat
    • Emmanuelle Salort-Campana
    • Brigitte Chabrol
    • Svetlana Gorokhova
    • Martin Krahn
    • Valerie Biancalana
    • Teresinha Evangelista
    • Anthony Behin
    • Corinne Metay
    • Tanya Stojkovic

    Journal of Neurology

    HAL DOI

  • Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations

    • Lila Krebs-Drouot
    • Audrey Schalk
    • Elise Schaefer
    • Christine Keyser
    • Angéla Gonzalez
    • Nadège Calmels
    • Marie-Thérèse Abi-Wardé
    • Laetitia Oertel
    • Cécile Acquaviva
    • Jean-Louis Mandel
    • Audrey Farrugia

    Forensic Science International: Genetics ; Volume: 71 ; Page: 103028

    HAL DOI

  • Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups.

    • Margherita Giannini
    • Léa Debrut
    • Benoit Nespola
    • Michel Velten
    • Bernard Geny
    • Jean Sibilia
    • Alain Meyer

    Nature reviews. Rheumatology

    HAL DOI

  • The AMPK-related kinase NUAK1 controls cortical axons branching by locally modulating mitochondrial metabolic functions

    • Marine Lanfranchi
    • Sozerko Yandiev
    • Géraldine Meyer-Dilhet
    • Salma Ellouze
    • Martijn Kerkhofs
    • Raphael dos Reis
    • Audrey Garcia
    • Camille Blondet
    • Alizée Amar
    • Anita Kneppers
    • Hélène Polvèche
    • Damien Plassard
    • Marc Foretz
    • Benoit Viollet
    • Kei Sakamoto
    • Rémi Mounier
    • Cyril F Bourgeois
    • Olivier Raineteau
    • Evelyne Goillot
    • Julien Courchet

    Nature Communications ; Volume: 15 ; Page: 2487

    HAL DOI

  • Hypercaloric low-carbohydrate high-fat diet protects against the development of nonalcoholic fatty liver disease in obese mice in contrast to isocaloric Western diet.

    • Anouk Charlot
    • Anthony Bringolf
    • Joris Mallard
    • Anne-Laure Charles
    • Nathalie Niederhoffer
    • Delphine Duteil
    • Allan Pagano
    • Bernard Geny
    • Joffrey Zoll

    Frontiers in Nutrition ; Volume: 11

    HAL DOI

  • Template Learning: deep learning with domain randomization for particle picking in cryo-electron tomography

    • Mohamad Harastani
    • Gurudatt Patra
    • Charles Kervrann
    • Mikhail Eltsov

    HAL DOI

  • Kidins220 and Aiolos promote thymic iNKT cell development by reducing TCR signals

    • Laurenz A Herr
    • Gina J Fiala
    • Dr Sagar
    • Anna-Maria Schaffer
    • Jonas F Hummel
    • Marina Zintchenko
    • Katrin Raute
    • Rubi M.-H Velasco Cárdenas
    • Beate Heizmann
    • Karolina Ebert
    • Kerstin Fehrenbach
    • Iga Janowska
    • Susan Chan
    • Yakup Tanriver
    • Susana Minguet
    • Wolfgang W Schamel

    Science Advances ; Volume: 10

    HAL DOI

  • Structural Impact of the Interaction of the Influenza A Virus Nucleoprotein with Genomic RNA Segments

    • Erwan Quignon
    • Damien Ferhadian
    • Antoine Hache
    • Valerie Vivet-Boudou
    • Catherine Isel
    • Anne Printz-Schweigert
    • Amélie Donchet
    • Thibaut Crépin
    • Roland Marquet

    Viruses ; Volume: 16 ; Page: 421

    HAL DOI

  • Developmental plasticity: a worm's eye view

    • Sophie Jarriault
    • Christelle Gally

    Journal of Experimental Biology ; Volume: 227

    HAL DOI