Publications scientifiques

Publications

• 2017

  • A recessive ataxia diagnosis algorithm for the next generation sequencing era

    • Mathilde Renaud
    • Christine Tranchant
    • Juan Vicente Torres Martin
    • Fanny Mochel
    • Matthis Synofzik
    • Bart van De Warrenburg
    • Massimo Pandolfo
    • Michel Koenig
    • Stefan A. Kolb
    • Mathieu Anheim

    Annals of Neurology ; Volume: 82 ; Page: 892--899

    HAL DOI

  • Diagnosis of primary ciliary dyskinesia: When and how?

    • Jean-Jacques Braun
    • Nelly Boehm
    • Carine Metz-Favre
    • Isabelle Koscinski
    • Marius Teletin
    • Christian Debry

    European Annals of Otorhinolaryngology, Head and Neck Diseases ; Volume: 134 ; Page: 377-382

    HAL DOI

  • Inhibition of β-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis

    • Alexandre Henriques
    • Mylene Huebecker
    • Hélène Blasco
    • Céline Keime
    • Christian Andres
    • Philippe Corcia
    • David Priestman
    • Frances Platt
    • Michael Spedding
    • Jean-Philippe Loeffler

    Scientific Reports ; Volume: 7 ; Page: 5235

    HAL DOI

  • YEATS2 links histone acetylation to tumorigenesis of non-small cell lung cancer

    • Wenyi Mi
    • Haipeng Guan
    • Jie Lyu
    • Dan Zhao
    • Yuanxin Xi
    • Shiming Jiang
    • Forest Andrews
    • Xiaolu Wang
    • Mihai Gagea
    • Hong Wen
    • Laszlo Tora
    • Sharon Dent
    • Tatiana Kutateladze
    • Wei Li
    • Haitao Li
    • Xiaobing Shi

    Nature Communications ; Volume: 8

    HAL DOI

  • Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

    • Marine Legendre
    • Véronique Abadie
    • Tania Attié-Bitach
    • Nicole Philip
    • Tiffany Busa
    • Dominique Bonneau
    • Estelle Colin
    • Hélène Dollfus
    • Didier Lacombe
    • Annick Toutain
    • Sophie Blesson
    • Sophie Julia
    • Dominique Martin-Coignard
    • David Geneviève
    • Bruno Leheup
    • Sylvie Odent
    • Pierre-Simon Jouk
    • Sandra Mercier
    • Laurence Faivre
    • Catherine Vincent-Delorme
    • ...

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; Volume: 175 ; Page: 417 - 430

    HAL DOI

  • Molecular architecture of potassium chloride co-transporter KCC2

    • Morgane Agez
    • Patrick Schultz
    • Igor Medina
    • David Baker
    • Matthew Burnham
    • Ross Cardarelli
    • Leslie Conway
    • Kelly Garnier
    • Stefan Geschwindner
    • Anders Gunnarsson
    • Eileen Mccall
    • Alexandre Frechard
    • Stéphane Audebert
    • Tarek Deeb
    • Stephen Moss
    • Nicholas Brandon
    • Qi Wang
    • Niek Dekker
    • Anass Jawhari

    Scientific Reports ; Volume: 7

    HAL DOI

  • Admission of tetanus patients to the ICU: a retrospective multicentre study

    • Rafael Mahieu
    • Thomas Reydel
    • Adel Maamar
    • Jean-Marc Tadié
    • Angeline Jamet
    • Arnaud Thille
    • Nicolas Chudeau
    • Julien Huntzinger
    • Steven Grange
    • Gaetan Beduneau
    • Stephan Ehrmann
    • Anne Courte
    • Jérémie Lemarié
    • Sebastien Gibot
    • Michaël Darmon
    • Christophe Guitton
    • Julia Champey
    • Carole Schwebel
    • Jean Dellamonica
    • Thibaut Wipf
    • ...

    Annals of Intensive Care ; Volume: 7

    HAL DOI

  • Development and evaluation of β-galactosidase-sensitive antibody-drug conjugates

    • Sergii Kolodych
    • Chloé Michel
    • Sébastien Delacroix
    • Oleksandr Koniev
    • Anthony Ehkirch
    • Jitka Eberova
    • Sarah Cianférani
    • Brigitte Renoux
    • Wojciech Krezel
    • Pauline Poinot
    • Christian D. Muller
    • Sébastien Papot
    • Alain Wagner

    European Journal of Medicinal Chemistry ; Volume: 142 ; Page: 376 - 382

    HAL DOI

  • Molecular architecture of potassium chloride co-transporter KCC2

    • Morgane Agez
    • Patrick Schultz
    • Igor Medina
    • David J. Baker
    • Matthew P. Burnham
    • Ross A. Cardarelli
    • Leslie C. Conway
    • Kelly Garnier
    • Stefan Geschwindner
    • Anders Gunnarsson
    • Eileen J. Mccall
    • Alexandre Frechard
    • Stéphane Audebert
    • Tarek Z. Deeb
    • Stephen J. Moss
    • Nicholas J. Brandon
    • Qi Wang
    • Niek Dekker
    • Anass Jawhari

    Scientific Reports ; Volume: 7

    HAL DOI

  • Interaction of the epigenetic integrator UHRF1 with the MYST domain of TIP60 inside the cell

    • Ali Hamiche
    • Waseem Ashraf
    • Christian Bronner
    • Liliyana Zaayter
    • Tanveer Ahmad
    • Ludovic Richert
    • Mahmoud Alhosin
    • Abdulkhaleg Ibrahim
    • Yves Mely
    • Marc Mousli

    Journal of experimental & clinical cancer research ; Volume: 36

    HAL DOI