Scientific publications

Publications

• 2024

  • Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort

    • Andrea Gangfuß
    • Guido Goj
    • Silke Polz
    • Adela Della Marina
    • Andreas Hentschel
    • Katja Ahlbory
    • Timo Deba
    • Urania Kotzaeridou
    • Elisabeth Schuler
    • Astrid Pechmann
    • Uta Diebold
    • Gerhard Kurlemann
    • Lucas Heinzkyll
    • Dirk Schmitt
    • Kevin Rostasy
    • Tobias Ruck
    • Johann Böhm
    • Andreas Roos
    • Ulrike Schara-Schmidt

    Journal of Neurology ; Volume: 272 ; Page: 63

    HAL DOI

  • Mapping the HPV16 E6-host protein interactome using quantitative interactomic methods to investigate biophysical properties of binding and model cellular complex formation, Cartographie de l'interactome de la protéine hôte HPV16 E6 à l'aide de méthodes d'interactomique quantitative pour étudier des propriétés biophysiques de la liaison et modéliser la formation de complexes cellulaires

    • Kathleen Weimer

    HAL

  • No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients

    • Clarisse Delvallée
    • Nadège Calmels
    • Thomas Bogdan
    • Christine Tranchant
    • Mathieu Anheim
    • Thomas Wirth

    Journal of Neurology ; Volume: 272 ; Page: 32

    HAL DOI

  • De l’initiation de la transcription à la stabilisation de l’ARN messager : étude du phénotype Tbpl2-/- : de l’ovaire à l’échelle subcellulaire lors de la croissance ovocytaire chez la souris, From transcription initiation to mRNA stability : study of the Tbpl2-/- phenotype : from the ovary to the subcellular characterization of growing oocytes

    • Emmanuel Garcia Sanchez

    HAL

  • ATAC and SAGA histone acetyltransferase modules facilitate transcription factor binding to nucleosomes independent of their acetylation activity

    • Kristin V Chesnutt
    • Gizem Yayli
    • Christine Toelzer
    • Mylène Damilot
    • Khan Cox
    • Gunjan Gautam
    • Imre Berger
    • László Tora
    • Michael G Poirier

    Nucleic Acids Research ; Volume: 53 ; Page: gkae1120

    HAL DOI

  • Loss of Sult1a1 reduces body weight and increases browning of white adipose tissue

    • Margherita Springer
    • Emmanuelle Meugnier
    • Katharina Schnabl
    • Kevin Sebastiaan Hof
    • Marie-France Champy
    • Tania Sorg
    • Benoit Petit-Demoulière
    • Natacha Germain
    • Bogdan Galusca
    • Bruno Estour
    • Hubert Vidal
    • Martin Klingenspor
    • Jörg Hager

    Frontiers in Endocrinology ; Volume: 15 ; Page: 1448107

    HAL DOI

  • Changes in AXL and/or MITF melanoma subpopulations in patients receiving immunotherapy

    • M. Willemsen
    • J. Bulgarelli
    • S.K. Chauhan
    • R.R. Lereim
    • D. Angeli
    • G. Grisendi
    • G. Krebbers
    • I. Davidson
    • J.A. Kyte
    • M. Guidoboni
    • Rosalie M Luiten
    • W.J. Bakker

    Immuno-Oncology and Technology ; Volume: 24 ; Page: 101009

    HAL DOI

  • Ocular manifestations in Koolen–de Vries syndrome: an international study

    • Dafna Shalev
    • David Koolen
    • Bert B.A. de Vries
    • Sharon Blum Meirovitch
    • Jean-Louis Mandel
    • Pauline Burger
    • Alik Rosenfeld
    • Guy Ben Simon
    • Daphna Landau Prat

    Canadian Journal of Ophthalmology ; Volume: 59 ; Page: e796-e802

    HAL DOI

  • Potential compensatory mechanisms preserving cardiac function in myotubular myopathy

    • Alix Simon
    • Nadege Diedhiou
    • David Reiss
    • Marie Goret
    • Erwan Grandgirard
    • Jocelyn Laporte

    Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476

    HAL DOI

  • Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

    • Tanja Zdolšek Draksler
    • Arianne Bouman
    • Alenka Guček
    • Erik Novak
    • Pauline Burger
    • Florent Colin
    • Tjitske Kleefstra

    European Journal of Medical Genetics ; Volume: 72 ; Page: 104974

    HAL DOI