dr. T.J. de Koning

No picture available
E-mail:
t.j.de.koning umcg.nl

Research

Publications
  1. De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability

    Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P. & Kamsteeg, E-J., 10-Mar-2020, In : EJHG. 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

    Polet, S. S., Anderson, D. G., Koens, L. H., van Egmond, M. E., Drost, G., Brusse, E., Willemsen, M. A., Sival, D. A., Brouwer, O. F., Kremer, H. P., de Vries, J. J., Tijssen, M. A. & de Koning, T. J., Mar-2020, In : Parkinsonism & Related Disorders. 72, p. 44-48 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A clinical diagnostic algorithm for early onset cerebellar ataxia

    Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, Brouwer, O. F., Buerk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Sep-2019, In : European Journal of Paediatric Neurology. 23, 54, p. 692-706 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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 journalArticleAcademicpeer-review

View all (142) »

ID: 10034756