Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction

por Vermeer, Mathilde C. S. C., Andrei, Daniela, Marsili, Luisa, van Tintelen, J. Peter, Silljé, Herman H. W., van den Berg, Maarten P., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

Clinical Outcome in KLHL24 Cardiomyopathy

por Vermeer, Mathilde C.S.C., Arevalo Gomez, Karla F., Hoes, Martijn F., Tromp, Jasper, Verdonschot, Job A.J., Henkens, Michiel T.H.M., Silljé, Herman H.W., Bolling, Maria C., van der Meer, Peter
Publicado 2023

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity

por Vermeer, Mathilde C. S. C., Andrei, Daniela, Kramer, Duco, Nijenhuis, Albertine M., Hoedemaekers, Yvonne M., Westers, Helga, Jongbloed, Jan D. H., Pas, Hendri H., van den Berg, Maarten P., Silljé, Herman H. W., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation

por Vermeer, Mathilde C.S.C., Al‐Shinnag, Mohammad, Silljé, Herman H.W., Gaytan, Antonio Esquivel, Murrell, Dedee F., McGaughran, Julie, Melbourne, Wei, Cowan, Timothy, van den Akker, Peter C., van Spaendonck‐Zwarts, Karin Y., van der Meer, Peter, Bolling, Maria C.
Publicado 2022

Selenium and outcome in heart failure

por Bomer, Nils, Grote Beverborg, Niels, Hoes, Martijn F., Streng, Koen W., Vermeer, Mathilde, Dokter, Martin M., IJmker, Jan, Anker, Stefan D., Cleland, John G.F., Hillege, Hans L., Lang, Chim C., Ng, Leong L., Samani, Nilesh J., Tromp, Jasper, van Veldhuisen, Dirk J., Touw, Daan J., Voors, Adriaan A., van der Meer, Peter
Publicado 2019

Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues

por Linders, Annet N., Dias, Itamar B., Ovchinnikova, Ekaterina S., Vermeer, Mathilde C.S.C., Hoes, Martijn F., Markousis Mavrogenis, George, Deiman, Frederik E., Arevalo Gomez, Karla F., Bliley, Jacqueline M., Nehme, Jamil, Vink, Aryan, Gietema, Jourik, de Boer, Rudolf A., Westenbrink, Daan, Sillje, Herman H.W., Hilfiker-Kleiner, Denise, van Laake, Linda W., Feinberg, Adam W., Demaria, Marco, Bomer, Nils, van der Meer, Peter
Publicado 2023