Collaborations and top research areas from the last five years
Research output
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PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes
Radenkovic, S., Preston, G., Budhraja, R., Muffels, I., Ligezka, A., Staff, N. P., Hrstka, R., Balakrishnan, B., Shah, R., Verberkmoes, S., Shammas, I., Bosnyak, I., Stiers, K. M., Lai, K., Beamer, L. J., Pandey, A., Morava, E. & Kozicz, T., 27 Mar 2026, In: Journal of Translational Medicine. 24, 1, 24 p., 430.Research output: Contribution to journal › Article › Academic › peer-review
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Beyond proline shortage: New insights into the pathophysiology of prolidase deficiency
Sainsbury, S. G., van den Broek, T. & van Hasselt, P. M., Jul 2025, In: Molecular Genetics and Metabolism. 145, 3, 109152.Research output: Contribution to journal › Review article › peer-review
Open AccessFile16 Downloads (Pure) -
Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors
Joore, I. P., Shehata, S., Muffels, I., Castro-Alpízar, J., Jiménez-Curiel, E., Nagyova, E., Levy, N., Tang, Z., Smit, K., Vermeij, W. P., Rodenburg, R., Schiffelers, R., Nieuwenhuis, E. E. S., van Hasselt, P. M., Fuchs, S. A. & Koppens, M. A. J., Jun 2025, In: PLoS Biology. 23, 6, e3003207.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure)
Activities
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WKZ Onderzoekssubsidie stimuleert onderzoek naar zeldzame ziekten via zebravismodellen
Heins Marroquin, U. (Contributor), van Haaften, G. (Interviewee) & van Hasselt, P. (Contributor)
Jun 2025Activity: Other › Types of Public engagement and outreach - Media article or participation
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Wisselstof: NAE1 De ontdekking van een nieuwe ziekte
van Hasselt, P. (Contributor) & Muffels, I. (Contributor)
Jul 2023Activity: Other › Types of Public engagement and outreach - Schools engagement › Academic
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UMC Utrecht: Nieuwe aangeboren metabole ziekte ontdekt
Muffels, I. (Interviewee), van Hasselt, P. (Contributor), Fuchs, S. A. (Contributor), van Wijk, F. (Contributor), Massink, M. (Contributor), Houben, M. (Contributor) & Lequin, M. (Contributor)
28 Feb 2023Activity: Other › Types of Public engagement and outreach - Media article or participation
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Prizes
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Prijs beste abstract 2022
van Hasselt, P. (Recipient) & Muffels, I. (Recipient), 3 Jun 2022
Prize: Prize (including medals and awards)
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UMD Catalyst Grant - Morpholomics: the Imagestream as a read out to visualize aberrant cellular pathways in patients with genetic Variants of Unknown Significance
van Hasselt, P. (Recipient) & Muffels, I. (Recipient), 2 Dec 2022
Prize: Prize (including medals and awards)
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