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J.M. Vanoevelen

Key publications
Vanoevelen, J. M., Bierau, J., Grashorn, J. C., Lambrichs, E., Kamsteeg, E. J., Bok, L. A., Wevers, R. A., van der Knaap, M. S., Bugiani, M., Frisk, J. H., Colnaghi, R., O'Driscoll, M., Hellebrekers, D. M. E. I., Rodenburg, R., Ferreira, C. R., Brunner, H. G., van den Wijngaard, A., Abdel-Salam, G. M. H., Wang, L. Y., & Stumpel, C. T. R. M. (2022). DTYMK is essential for genome integrity and neuronal survival. Acta Neuropathologica, 143(2), 245-262. https://doi.org/10.1007/s00401-021-02394-0
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Recent publications
  • ter Bekke, R. M. A., de Schouwer, K., Conti, S., Claes, G. R. F., Vanoevelen, J., Gommers, S., Helderman-van den Enden, A. T. J. M., & Brunner-LaRocca, H.-P. (2023). Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy-a case report. European Heart Journal - Case Reports, 7(6), Article ytad255. https://doi.org/10.1093/ehjcr/ytad255
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  • Delnoy, B., Haskovic, M., Vanoevelen, J., Steinbusch, L. K. M., Vos, E. N., Knoops, K., Zimmermann, L. J. I., Noga, M., Lefeber, D. J., Martini, P. G. V., Coelho, A. I., & Rubio-Gozalbo, M. E. (2022). Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia. Journal of Inherited Metabolic Disease, 45(4), 748-758. https://doi.org/10.1002/jimd.12512
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  • Vanoevelen, J. M., Bierau, J., Grashorn, J. C., Lambrichs, E., Kamsteeg, E. J., Bok, L. A., Wevers, R. A., van der Knaap, M. S., Bugiani, M., Frisk, J. H., Colnaghi, R., O'Driscoll, M., Hellebrekers, D. M. E. I., Rodenburg, R., Ferreira, C. R., Brunner, H. G., van den Wijngaard, A., Abdel-Salam, G. M. H., Wang, L. Y., & Stumpel, C. T. R. M. (2022). DTYMK is essential for genome integrity and neuronal survival. Acta Neuropathologica, 143(2), 245-262. https://doi.org/10.1007/s00401-021-02394-0
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  • Frisk, J. H., Vanoevelen, J. M., Bierau, J., Pejler, G., Eriksson, S., & Wang, L. (2021). Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity. Acs omega, 6(49), 33943-33952. https://doi.org/10.1021/acsomega.1c05288
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  • van Reij, R. R. I., Salmans, M. M. A., Eijkenboom, I., van den Hoogen, N. J., Joosten, E. A. J., & Vanoevelen, J. M. (2021). Dopamine-neurotransmission and nociception in zebrafish: An anti-nociceptive role of dopamine receptor drd2a. European Journal of Pharmacology, 912, Article 174517. https://doi.org/10.1016/j.ejphar.2021.174517
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  • Kapsokalyvas, D., Rosas, R., Janssen, R. W. A., Vanoevelen, J. M., Nabben, M., Strauch, M., Merhof, D., & van Zandvoort, M. A. M. J. (2021). Multiview deconvolution approximation multiphoton microscopy of tissues and zebrafish larvae. Scientific Reports, 11(1), Article 10160. https://doi.org/10.1038/s41598-021-89566-w
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  • Haskovic, M., Coelho, A. I., Lindhout, M., Zijlstra, F., Veizaj, R., Vos, R., Vanoevelen, J. M., Bierau, J., Lefeber, D. J., & Rubio-Gozalbo, M. E. (2020). Nucleotide sugar profiles throughout development in wildtype andgaltknockout zebrafish. Journal of Inherited Metabolic Disease, 43(5), 994-1001. https://doi.org/10.1002/jimd.12265
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  • Haskovic, M., Coelho, A. I., Bierau, J., Vanoevelen, J. M., Steinbusch, L. K. M., Zimmermann, L. J. I., Villamor-Martinez, E., Berry, G. T., & Rubio-Gozalbo, M. E. (2020). Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. Journal of Inherited Metabolic Disease, 43(3), 392-408. https://doi.org/10.1002/jimd.12202
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  • Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G., & Smeets, H. J. M. (2019). A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1. Mitochondrion, 47, 273-281. https://doi.org/10.1016/j.mito.2019.01.002
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  • Alsaloum, M., Estacion, M., Almomani, R., Gerrits, M. M., Boenhof, G. J., Ziegler, D., Malik, R., Ferdousi, M., Lauria, G., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S., Waxman, S. G., de Greef, B., Hoeijmakers, J. G. J., Sopacua, M., Smeets, H. J. M., Vanoevelen, J. M., Eijkenboom, ... PROPANE Study Grp (2019). A gain-of-function sodium channelβ2-subunit mutation in painful diabetic neuropathy. Molecular Pain, 15, 1-14. Article 1744806919849802. https://doi.org/10.1177/1744806919849802
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