1. CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

   Lambrechts, R. A., Schepers, H., Yu, Y., van der Zwaag, M., Autio, K. J., Vieira-Lara, M. A., Bakker, B. M., Tijssen, M. A., Hayflick, S. J., Grzeschik, N. A. & Sibon, O. C., 7-Nov-2019, In : EMBO Molecular Medicine. 21 p., 10488.

   Research output: Contribution to journal › Article › Academic › peer-review

2. North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

   Lambrechts, R. A., Polet, S. S., Hernandez-Pichardo, A., van Ninhuys, L., Gorter, J. A., Grzeschik, N. A., de Koning-Tijssen, M. A. J., de Koning, T. J. & Sibon, O. C. M., 15-Dec-2019, In : Neuroscience. 423, p. 1-11 11 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility

   Yeshaw, W. M., van der Zwaag, M., Pinto, F., Lahaye, L. L., Faber, A. I., Gómez-Sánchez, R., Dolga, A. M., Poland, C., Monaco, A. P., van IJzendoorn, S., Grzeschik, N. A., Velayos-Baeza, A. & Sibon, O. C., 11-Feb-2019, In : eLife. 8, 37 p., 43561.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

   Iuso, A., Wiersma, M., Schüller, H-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N. A., Okun, J. G., Perles, Z., Salem, Y., Barel, O., Vardi, A., Rubinshtein, M., Tirosh, T., Dubnov-Raz, G., Messias, A. C., Terrile, C., Barshack, I., Volkov, A., Avivi, C., Eyal, E., Mastantuono, E., Kumbar, M., Abudi, S., Braunisch, M., Strom, T. M., Meitinger, T., Hoffmann, G. F., Prokisch, H., Haack, T. B., Brundel, B. J. J. M., Haas, D., Sibon, O. C. M. & Anikster, Y., 7-Jun-2018, In : American Journal of Human Genetics. 102, 6, p. 1018-1030 13 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

   Di Meo, I., Colombelli, C., Srinivasan, B., de Villiers, M., Hamada, J., Jeong, S. Y., Fox, R., Woltjer, R. L., Tepper, P. G., Lahaye, L. L., Rizzetto, E., Harrs, C. H., de Boer, T., van der Zwaag, M., Jenko, B., Čusak, A., Pahor, J., Kosec, G., Grzeschik, N. A., Hayflick, S. J., Tiranti, V. & Sibon, O. C. M., 12-Sep-2017, In : Scientific Reports. 7, 1, 12 p., 11260.

   Research output: Contribution to journal › Article › Academic › peer-review

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