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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
van Karnebeek, C. D. M., Tarailo-Graovac, M., Leen, R., Meinsma, R., Correard, S., Jansen-Meijer, J., Prykhozhij, S. V., Pena, I. A., Ban, K., Schock, S., Saxena, V., Pras-Raves, M. L., Drögemöller, B. I., Grootemaat, A. E., van der Wel, N. N., Dobritzsch, D., Roseboom, W., Schomakers, B. V., Jaspers, Y. R. J., Zoetekouw, L., & 23 others, 1 Jun 2024, In: Genetics in medicine. 26, 6, 101104.Research output: Contribution to journal › Article › Academic › peer-review
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Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
Jaspers, Y. R. J., Meyer, S. W., Pras-Raves, M. L., Dijkstra, I. M. E., Wever, E. J. M., Dane, A. D., van Klinken, J. B., Salomons, G. S., Houtkooper, R. H., Engelen, M., Kemp, S., Van Weeghel, M. & Vaz, F. M., 1 Jun 2024, In: Journal of Lipid Research. 65, 6 June, 100567.Research output: Contribution to journal › Article › Academic › peer-review
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A conserved complex lipid signature marks human muscle aging and responds to short-term exercise
Janssens, G. E., Molenaars, M., Herzog, K., Grevendonk, L., Remie, C. M. E., Vervaart, M. A. T., Elfrink, H. L., Wever, E. J. M., Schomakers, B. V., Denis, S. W., Waterham, H. R., Pras-Raves, M. L., van Weeghel, M., van Kampen, A. H. C., Tammaro, A., Butter, L. M., van der Rijt, S., Florquin, S., Jongejan, A., Moerland, P. D., & 4 others, May 2024, In: Nature Aging. 4, 5, p. 681-693 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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