Clinical phenotypes of infantile onset CACNA1A-related disorder

Gur-Hartman, T., Berkowitz, O., Yosovich, K., Roubertie, A., Zanni, G., Macaya, A., Heimer, G., Dueñas, B. P., Sival, D. A., Pode-Shakked, B., López-Laso, E., Humbertclaude, V., Riant, F., Bosco, L., Cayron, L. B., Nissenkorn, A., Nicita, F., Bertini, E., Hassin, S., Ben Zeev, B. & 6 anderen, Zerem, A., Libzon, S., Lev, D., Linder, I., Lerman-Sagie, T. & Blumkin, L., jan-2021, In: European Journal of Paediatric Neurology. 30, blz. 144-154 11 blz.

Onderzoeksoutput › Academic › peer review

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., mrt-2020, In: Parkinsonism & Related Disorders. 72, blz. 44-48 5 blz.

Onderzoeksoutput › Academic › peer review

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-mrt-2020, In: EJHG. 28, 6, blz. 763-769 7 blz.

Onderzoeksoutput › Academic › peer review

Development of muscle ultrasound density in healthy fetuses and infants

Verbeek, R. J., Mulder, P. B., Sollie, K. M., van der Hoeven, J. H., den Dunnen, W. F. A., Maurits, N. M. & Sival, D. A., 2020, In: PLoS ONE. 15, 7, 10 blz., e0235836.

Onderzoeksoutput › Academic › peer review

Dyskinesia Impairment Scale scores in Dutch pre-school children after neonatal therapeutic hypothermia

Neonatal Neurologic Assessment Group, Kuiper, M. J., Meiners, L. C., Chandler, E. S., Brandsma, R., Bos, A. F., Horst, H. T. & Sival, D. A., sep-2020, In: European Journal of Paediatric Neurology. 28, blz. 70-76 7 blz.

Onderzoeksoutput › Academic › peer review