Publications scientifiques

Publications

• 2022

  • Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype

    • Thomas Wirth
    • Giacomo Garone
    • Manju A. Kurian
    • Amélie Piton
    • Emmanuel Roze
    • Jean Pierre Lin
    • Christine Tranchant
    • Laura Cif
    • Diane Doummar
    • Mathieu Anheim

    Movement Disorders ; Volume: 37 ; Page: 2466-2467

    HAL DOI

  • Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

    • Clémence Labasse
    • Guy Brochier
    • Ana-Lia Taratuto
    • Bruno Cadot
    • John Rendu
    • Soledad Monges
    • Valérie Biancalana
    • Susana Quijano-Roy
    • Mai Thao Bui
    • Anaïs Chanut
    • Angéline Madelaine
    • Emmanuelle Lacène
    • Maud Beuvin
    • Helge Amthor
    • Laurent Servais
    • Yvan de Feraudy
    • Marcela Erro
    • Maria Saccoliti
    • Osorio Abath Neto
    • Julien Fauré
    • ...

    Acta Neuropathologica Communications ; Volume: 10 ; Page: 101

    HAL DOI

  • Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

    • Thomas Bogdan
    • Thomas Wirth
    • Andra-Valentina Iosif
    • Audrey Schalk
    • Solveig Montaut
    • Camille Bonnard
    • Germain Carre
    • Ouhaïd Lagha-Boukbiza
    • Cécile Reschwein
    • Emmanuelle Albugues
    • Stanislas Demuth
    • Hanna Landsberger
    • Maximilian Einsiedler
    • Timothée Parratte
    • Alexis Nguyen
    • Florian Lamy
    • Hélène Durand
    • Pauline Fahrer
    • Paul Voulleminot
    • Kévin Bigaut
    • ...

    Journal of Neurology ; Volume: 269 ; Page: 6354-6365

    HAL DOI

  • Delta opioid receptors on nociceptive sensory neurons mediate peripheral endogenous analgesia in colitis

    • Xavier Mas-Orea
    • Lilian Basso
    • Catherine Blanpied
    • Claire Gaveriaux-Ruff
    • Nicolas Cenac
    • Gilles Dietrich

    Journal of Neuroinflammation ; Volume: 19 ; Page: 11 p.

    HAL DOI

  • Promiscuity mapping of the S100 protein family using a high-throughput holdup assay

    • Márton Simon
    • Éva Bartus
    • Beáta Mag
    • Eszter Boros
    • Lea Roszjár
    • Gergő Gógl
    • Gilles Travé
    • Tamás Martinek
    • László Nyitray

    Scientific Reports ; Volume: 12 ; Page: 5904

    HAL DOI

  • Structural investigations of the protein synthesis apparatus of Candida albicans studied by cryo-EM, Base structurelle de l’appareil de synthèse des protéines de Candida albicans étudiée par cryo-EM

    • Yuri Zgadzay

    HAL

  • The Ribosome Maturation Factor Rea1 utilizes nucleotide independent and ATP hydrolysis driven Linker remodelling for the removal of ribosome assembly factors

    • Johan Busselez
    • Geraldine Koenig
    • Torben Klos
    • Hugo Gizardin-Fredon
    • Sarah Cianferani
    • Carine Dominique
    • Yves Henry
    • Anthony Henras
    • Helgo Schmidt

    HAL DOI

  • GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

    • Pauline Burger
    • Florent Colin
    • Axelle Strehle
    • Timothée Mazzucotelli
    • Nicole Collot
    • Romain Coutelle
    • Benjamin Durand
    • Arianne Bouman
    • Daphna Landau Prat
    • Tjitske Kleefstra
    • Pierre Parrend
    • Amélie Piton
    • David Koolen
    • Jean-Louis Mandel

    Journal of Neural Transmission ; Volume: 27 ; Page: 1-13

    HAL DOI

  • CryoEM Structure and Assembly Mechanism of a Bacterial Virus Genome Gatekeeper

    • Igor Orlov
    • Stephane Roche
    • Sandrine Brasilès
    • Natalya Lukoyanova
    • Marie-Christine Vaney
    • Paulo Tavares
    • Elena V. Orlova

    Nature Communications ; Volume: 13 ; Page: 7283

    HAL DOI

  • UBAP2L-dependent coupling of PLK1 localization and stability during mitosis

    • Lucile Guerber
    • Evanthia Pangou
    • Aurore Vuidel
    • Yongrong Liao
    • Charlotte Kleiss
    • Erwan Grandgirard
    • Izabela Sumara

    HAL DOI