Research output per year
Research output per year
Personal profile
Research interests
I am interested in striated muscle performance in health and disease and in how to restore muscle function in those that experience muscle weakness. More specifically, my research focusses on how variants in genes encoding the sarcomere – the smallest contractile unit in striated muscle - affect muscle function and energetics. My main techniques include: intact muscle mechanics, permeabilized muscle fiber mechanics, enzymatic assays, histology
Education/Academic qualification
PhD, Nemaline myopathy: pathophysiology and therapeutic targets, Amsterdam UMC
Award Date: 27 Jan 2017
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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KBTBD13 is a novel cardiomyopathy gene
de Winter, J. M., Bouman, K., Strom, J., Methawasin, M., Jongbloed, J. D. H., van der Roest, W., Wijngaarden, J. V., Timmermans, J., Nijveldt, R., van den Heuvel, F., Kamsteeg, E-J., van Engelen, B. G., Galli, R., Bogaards, S. J. P., Boon, R. A., van der Pijl, R. J., Granzier, H., Koeleman, B., Amin, A. S., van der Velden, J., & 5 others, 6 Nov 2022, In: Human Mutation. 43, 12, p. 1860-1865 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits
Lindqvist, J., Kolb, J., de Winter, J., Tonino, P., Hourani, Z., Labeit, S., Ottenheijm, C. & Granzier, H., 1 Aug 2022, In: International Journal of Molecular Sciences. 23, 15, 8113.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice
de Winter, J. M., Gineste, C., Minardi, E., Brocca, L., Rossi, M., Borsboom, T., Beggs, A. H., Bernard, M., Bendahan, D., Hwee, D. T., Malik, F. I., Pellegrino, M. A., Bottinelli, R., Gondin, J. & Ottenheijm, C. A. C., 15 Jul 2021, In: Human Molecular Genetics. 30, 14, p. 1305-1320 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material
Bouman, K., Küsters, B., de Winter, J. M., Gillet, C., van Kleef, E. S. B., Eshuis, L., Brochier, G., Madelaine, A., Labasse, C., Boulogne, C., van Engelen, B. G. M., Ottenheijm, C. A. C., Romero, N. B., Voermans, N. C. & Malfatti, E., 7 Mar 2021, In: Journal of Neuropathology and Experimental Neurology. 80, 4, p. 366-376 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
van de Locht, M., Donkervoort, S., de Winter, J. M., Conijn, S., Begthel, L., Kusters, B., Mohassel, P., Hu, Y., Medne, L., Quinn, C., Moore, S. A., Foley, A. R., Seo, G., Hwee, D. T., Malik, F. I., Irving, T., Ma, W., Granzier, H. L., Kamsteeg, E-J., Immadisetty, K., & 5 others, 1 May 2021, In: Journal of Clinical Investigation. 131, 9, e145700.Research output: Contribution to journal › Article › Academic › peer-review
Open Access