Publications scientifiques

Publications

• 2024

  • Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    • Viorica Chelban
    • Henriette Aksnes
    • Reza Maroofian
    • Lauren C Lamonica
    • Luis Seabra
    • Anette Siggervåg
    • Perrine Devic
    • Hanan E Shamseldin
    • Jana Vandrovcova
    • David Murphy
    • Anne-Claire Richard
    • Olivier Quenez
    • Antoine Bonnevalle
    • M. Natalia Zanetti
    • Rauan Kaiyrzhanov
    • Vincenzo Salpietro
    • Stephanie Efthymiou
    • Lucia V Schottlaender
    • Heba Morsy
    • Annarita Scardamaglia
    • ...

    Nature Communications ; Volume: 15 ; Page: 2269

    HAL DOI

  • Anti-RGS8 paraneoplastic cerebellar ataxia is preferentially associated with a particular subtype of Hodgkin’s lymphoma

    • Elise Peter
    • Nicolas Lundahl Ciano-Petersen
    • Le-Duy Do
    • Jimmy Perrot
    • Thomas Ngo
    • John Pluvinage
    • Christopher Bartley
    • Kelsey Zorn
    • Ramona Miske
    • Madeleine Scharf
    • Macarena Villagrán-García
    • Antonio Farina
    • Véronique Rogemond
    • Jean-Christophe Antoine
    • Christine Tranchant
    • Valérie Dubois
    • Joseph Derisi
    • Samuel Pleasure
    • Michael Wilson
    • Jeffrey Gelfand
    • ...

    Journal of Neurology ; Volume: 271 ; Page: 6839-6846

    HAL DOI

  • Integrated Experimental and Theoretical Investigation of Copper Active Site Properties of a Lytic Polysaccharide Monooxygenase from Serratia marcescens

    • Alessia Munzone
    • Manon Pujol
    • Chris Joseph
    • Ievgen Mazurenko
    • Marius Réglier
    • Sergio Jannuzzi
    • Antoine Royant
    • Giuseppe Sicoli
    • Serena Debeer
    • Maylis Orio
    • A. Jalila Simaan
    • Christophe Decroos

    Inorganic Chemistry ; Page: Online ahead of print

    HAL DOI

  • i-Dent: A virtual assistant to diagnose rare genetic dental diseases

    • Hocine Kadi
    • Marzena Kawczynski
    • Sara Bendjama
    • Jesus Zegarra Flores
    • Audrey Leong-Hoi
    • Hugues de Lastic
    • Julien Balbierer
    • Claire Mabileau
    • Jean Pierre Radoux
    • Bruno Grollemund
    • Jean Jaegle
    • Christophe Guébert
    • Bertrand Bisch
    • Agnès Bloch-Zupan

    Computers in Biology and Medicine ; Volume: 180 ; Page: 108927

    HAL DOI

  • Correction: Efficient pathway for men fertility preservation in testicular cancer or lymphoma: a cross-sectional study of national 2018 data (vol 33, 35, 2023)

    • Segolene Prades
    • Sarah-Lyne Jos
    • Jacqueline Saias-Magnan
    • Louis Bujan
    • Florence Eustache
    • Oxana Blagosklonov
    • Eric Lechevallier
    • Florence Brugnon
    • Vanessa Loup-Cabaniols
    • Dorian Bosquet
    • Marie Prades
    • Berengere Ducrocq
    • Celine Chalas
    • Sandrine Giscard-d'Estaing
    • Anne Mayeur
    • Isabelle Koscinsky
    • Francoise Schmitt
    • Aline Papaxanthos-Roche
    • Marius Teletin
    • Emmanuelle Thibault
    • ...

    Basic and clinical andrology ; Volume: 34 ; Page: 5

    HAL DOI

  • A high-light therapy restores the circadian clock and corrects the pathological syndrome generated in restricted-fed mice

    • Manohar Damara
    • Nisha Misra
    • Pierre Chambon

    Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121

    HAL DOI

  • Acutely Modifying Phosphatidylinositol Phosphates on Endolysosomes Using Chemically Inducible Dimerization Systems

    • Wei Sheng Yap
    • Peter K Kim
    • Maxime Boutry

    Bio-protocol ; Volume: 14

    HAL DOI

  • Repurposing myoglobin into a carbene transferase for a [2,3]-sigmatropic Sommelet-Hauser rearrangement

    • Manon Pujol
    • Lison Degeilh
    • Thibault Sauty de Chalon
    • Marius Réglier
    • A. Jalila Simaan
    • Christophe Decroos

    Journal of Inorganic Biochemistry ; Volume: 260 ; Page: 112688

    HAL DOI

• 2023

  • How much do we know about the function of mammalian genes?

    • Lydia Teboul
    • Yann Hérault
    • Sara Wells
    • Guillaume Pavlovic

    BMC Biology ; Volume: 21

    HAL DOI

  • Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans

    • Efil Bayam
    • Peggy Tilly
    • Stephan Collins
    • José Rivera Alvarez
    • Meghna Kannan
    • Lucile Tonneau
    • Bruno Rinaldi
    • Romain Lecat
    • Noémie Schwaller
    • Sateesh Maddirevula
    • Fabiola Monteiro
    • João Paulo Kitajima
    • Fernando Kok
    • Mitsuhiro Kato
    • Ahlam Hamed
    • Mustafa Salih
    • Saeed Al Tala
    • Mais Hashem
    • Hiroko Tada
    • Hirotomo Saitsu
    • ...

    HAL DOI