Scientific publications

Publications

• 2020

  • Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

    • Andoni Echaniz-Laguna
    • Valérie Biancalana
    • Aleksandra Nadaj-Pakleza
    • Emmanuel Fournier
    • Emma Matthews
    • Michael Hanna
    • Roope Männikkö

    Journal of Neurology, Neurosurgery and Psychiatry ; Volume: 91 ; Page: 898-900

    HAL DOI

  • Reproduction Function in Male Patients With Bardet Biedl Syndrome

    • Isabelle Koscinski
    • Manuel Mark
    • Nadia Messaddeq
    • Jean Jacques Braun
    • Catherine Celebi
    • Jean Muller
    • Anna Zinetti-Bertschy
    • Nathalie Goetz
    • Hélène Dollfus
    • Sylvie Rossignol

    Journal of Clinical Endocrinology and Metabolism ; Volume: 105 ; Page: e4417-e4429

    HAL DOI

  • Soft windowing application to improve analysis of high-throughput phenotyping data

    • Hamed Haselimashhadi
    • Jeremy Mason
    • Violeta Munoz-Fuentes
    • Federico López-Gómez
    • Kolawole Babalola
    • Elif Acar
    • Vivek Kumar
    • Jacqui White
    • Ann Flenniken
    • Ruairidh King
    • Ewan Straiton
    • John Richard Seavitt
    • Angelina Gaspero
    • Arturo Garza
    • Audrey Christianson
    • Chih-Wei Hsu
    • Corey Reynolds
    • Denise Lanza
    • Isabel Lorenzo
    • Jennie Green
    • ...

    Bioinformatics ; Volume: 36 ; Page: 1492-1500

    HAL DOI

  • Hijacking the NLRP3 inflammasome: a mechanism underlying viral respiratory disease?

    • Zhirong Zhang
    • Romeo Ricci

    EMBO Reports ; Volume: 21

    HAL DOI

  • Differential effects of glucose deprivation on the survival of fetal versus adult neural stem cells-derived oligodendrocyte precursor cells

    • Vito Antonio Baldassarro
    • Alessandra Marchesini
    • Luciana Giardino
    • Laura Calzà

    Glia ; Volume: 68 ; Page: 898-917

    HAL DOI

  • Constitutive Activation of RAS/MAPK Pathway Cooperates with Trisomy 21 and Is Therapeutically Exploitable in Down Syndrome B-cell Leukemia

    • Anouchka Laurent
    • Aurélie Siret
    • Cathy Ignacimouttou
    • Kunjal Panchal
    • M'Boyba Diop
    • Silvia Jenni
    • Yi-Chien Tsai
    • Damien Roos-Weil
    • Zakia Aid
    • Naïs Prade
    • Stéphanie Lagarde
    • Damien Plassard
    • Gaëlle Pierron
    • Estelle Daudigeos
    • Yann Lecluse
    • Nathalie Droin
    • Beat Bornhauser
    • Laurence Cheung
    • John Crispino
    • Muriel Gaudry
    • ...

    Clinical Cancer Research ; Volume: 26 ; Page: 3307-3318

    HAL DOI

  • Cryo‐EM structure of the ribosome functional complex of the human pathogen Staphylococcus aureus at 3.2 Å resolution

    • Alexander Golubev
    • Bulat Fatkhullin
    • Iskander Khusainov
    • Lasse Jenner
    • Azat Gabdulkhakov
    • Shamil Validov
    • Marat Yusupov
    • Gulnara Yusupova
    • Konstantin Usachev

    FEBS Letters ; Volume: 594 ; Page: 3551 - 3567

    HAL DOI

  • In vitro Reconstitution of the S. aureus 30S Ribosomal Subunit and RbfA Factor Complex for Structural Studies

    • A Bikmullin
    • L Nurullina
    • N Garaeva
    • E Klochkova
    • D Blokhin
    • Aleksandr Golubev
    • S Validov
    • Iskander Khusainov
    • K Usachev
    • Marat Yusupov

    Биохимия / Biochemistry ; Volume: 85 ; Page: 545-552

    HAL DOI

  • Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

    • Felix Kunz
    • Hülya Kayserili
    • Alina Midro
    • Deepthi de Silva
    • Sriyani Basnayake
    • Yeliz Güven
    • Jan Borys
    • Denny Schanze
    • Angelika Stellzig-Eisenhauer
    • Agnès Bloch-Zupan
    • Martin Zenker

    American Journal of Medical Genetics Part A ; Volume: 182 ; Page: 1681-1689

    HAL DOI

  • Hibernation as a Stage of Ribosome Functioning

    • Konstantin Sergeevich Usachev
    • Marat Yusupov
    • Shamil Zavdatovich Validov

    Биохимия / Biochemistry ; Volume: 85 ; Page: 1434-1442

    HAL DOI