Myotilinopathy in a family with late onset myopathy

    Pènisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B

    Neuromuscul Disord (2006)

    Published on December 2, 2025

    DOI: https://doi.org/10.1016/j.nmd.2006.04.015

    Core: Finnish Functional Genomics Centre
    ← Back to Publications
    User Publication
    <i>Staphylococcus aureus</i> Augments Epithelial Skin Barrier Damage Through T Cell Activation in Cutaneous T Cell Lymphoma
    M. Gluud et al. • 2026 • Allergy
    Core:Cytometry Core
    User Publication
    Fast label-free live imaging with FlowVision reveals key principles of cancer cell arrest on endothelial monolayers
    G. Follain et al. • 2026 • The EMBO Journal
    Core:Advanced Imaging Core
    User Publication
    Synthesis and Characterization of Glyco‐Decorated Silsesquioxane‐Metallosalen Complexes
    H. Haapsaari et al. • 2026 • ChemistrySelect
    Core:Protein Structure and Chemistry
    User Publication
    Functional characterization and directed evolution of Cicer arietinum glutathione transferases for enhanced hydroperoxidase activity and ligandin function
    A. Kontouri et al. • 2026 • Phytochemistry
    Core:Protein Structure and Chemistry
    User Publication
    Isomeric cues direct macrocycle selection from complex chemical systems for selective separation and recycling
    X. Wang et al. • 2026 • Cell Reports Physical Science
    Core:Protein Structure and Chemistry

    More Publications

    User Publication
    December 2, 2025
    Clever-1/stabilin-1 controls cancer growth and metastasis
    Karikoski M, Marttila-Ichihara F, Elima K, Rantakari P, Hollmén M, Kelkka T, Gerke H, Huovinen V, Irjala H, Holmdahl R, Salmi M, Jalkanen S Clinical Cancer Research (2014)
    Abstract Purpose: Immunosuppressive leukocytes and vasculature are important host cell components regulating tumor progression. Clever-1/Stabilin-1, a multifunctional scavenger and adhesion...
    Read abstract
    User Publication
    December 2, 2025
    Long-term leisure-time physical activity and serum metabolome
    Kujala UM, Mäkinen VP, Heinonen I, Soininen P, Kangas AJ, Leskinen TH, Rahkila P, Würtz P, Kovanen V, Cheng S, Sipilä S, Hirvensalo M, Telama R, Tammelin T, Savolainen MJ, Pouta A, O'Reilly PF, Mäntyselkä P, Viikari J, Kähönen M, Lehtimäki T, Elliott P, Vanhala MJ, Raitakari OT, Järvelin MR, Kaprio J, Kainulainen H, Ala-Korpela M Circulation (2013)
    Background— Long-term physical inactivity seems to cause many health problems. We studied whether persistent physical activity compared with inactivity has...
    Read abstract
    User Publication
    December 2, 2025
    AMPK negatively regulates tensin-dependent integrin activity
    Georgiadou M, Lilja J, Jacquemet G, Guzmán C, Rafaeva M, Alibert C, Yan Y, Sahgal P, Lerche M, Manneville JB, Mäkelä TP, Ivaska J J Cell Biol (2017)
    Tight regulation of integrin activity is paramount for dynamic cellular functions such as cell matrix adhesion and mechanotransduction. Integrin activation...
    Read abstract