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
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Collaborations and top research areas from the last five years
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A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6
van Kleef, E. S. B., Bouman, K., Molenaar, J. P. F., de Winter, J. M., Duijkers, F. A. M., Eftimov, F., Verschuuren-Bemelmans, C. C., van der Laan, T., Küsters, B., Malfatti, E., Kamsteeg, E.-J., van Engelen, B. G. M., Ottenheijm, C. A. C., Doorduin, J. & Voermans, N. C., 4 Sept 2024, (E-pub ahead of print) In: Journal of neuromuscular diseases.Research output: Contribution to journal › Article › Academic › peer-review
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KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter, J. M., Molenaar, J. P., Yuen, M., van der Pijl, R., Shen, S., Conijn, S., van de Locht, M., Willigenburg, M., Bogaards, S. J., van Kleef, E. S., Lassche, S., Persson, M., Rassier, D. E., Sztal, T. E., Ruparelia, A. A., Oorschot, V., Ramm, G., Hall, T. E., Xiong, Z. & Johnson, C. N. & 21 others, , 1 Feb 2024, In: Journal of clinical investigation. 134, 3Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Downloads (Pure) -
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Donkervoort, S., van de Locht, M., Ronchi, D., Reunert, J., McLean, C. A., Zaki, M., Orbach, R., Hoomoedt, D., de Winter, J. M., Conijn, S., Neto, O. L. A., Magri, F., Viaene, A. N., Foley, A. R., Gorokhova, S., Bolduc, V., Hu, Y., Acquaye, N., Napoli, L. & Park, J. H. & 24 others, , 3 Apr 2024, In: Science translational medicine. 16, 741, p. eadg2841Research output: Contribution to journal › Article › Academic › peer-review
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Tirasemtiv enhances submaximal muscle tension in an Acta1: p.Asp286Gly mouse model of nemaline myopathy
Galli, R. A., Borsboom, T. C., Gineste, C., Brocca, L., Rossi, M., Hwee, D. T., Malik, F. I., Bottinelli, R., Gondin, J., Pellegrino, M.-A., de Winter, J. M. & Ottenheijm, C. A. C., 1 Apr 2024, In: Journal of general physiology. 156, 4, e202313471.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Cardone, N., Moula, M., Baelde, R. J., Biquand, A., Villanova, M., Metay, C., Fiorillo, C., Baratto, S., Merlini, L., Sabatelli, P., Romero, N. B., Relaix, F., Authier, F. J. R., Taglietti, V., Savarese, M., de Winter, J., Ottenheijm, C., Richard, I. & Malfatti, E., 1 Dec 2023, In: Acta neuropathologica communications. 11, 1, 48.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile13 Downloads (Pure)