N.A. Grzeschik

E-mail:
n.a.grzeschik umcg.nl

Research

Publications
  1. 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., 1-Nov-2019, In : Neuroscience. 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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 journalArticleAcademicpeer-review

  3. 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 journalArticleAcademicpeer-review

  4. 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 journalArticleAcademicpeer-review

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