dr. D.A. (Deborah) Sival

Pediatric neurologist

dr. D.A. (Deborah) Sival
E-mail:
d.a.sival umcg.nl

Research

Publications
  1. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

    Barnicoat, A., Low, K., Gerkes, E. H., Fry, A. E., Parker, M. J., O'Driscoll, M., Charles, P., Cox, H., Marey, I., Keren, B., Rinne, T., McEntagart, M., Ramachandran, V., Drury, S., Vansenne, F., Sival, D. A., Herkert, J. C., Callewaert, B., Tan, W-H. & Balasubramanian, M., May-2020, In : Human Mutation. 41, 5, p. 1042-1050 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. 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

  3. 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., 18-Feb-2020, In : Parkinsonism & Related Disorders. 72, p. 44-48 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Exergame training in Early Onset Ataxia patients

    Brandsma, R., Ganzevoort, I., Berg, M., Vega, Z. T. D., Jelsma, L. D., Schoemaker, M. M., Maurits, N. M., Lamoth, C. & Sival, D., Oct-2019, In : Movement Disorders. 34, p. S99-S99 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. 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

View all (110) »

Press / Media
  1. DMCN Author Podcast - Deborah Sival (February 2016)

    Deborah Sival

    01/02/2016

    1 Media contribution

    Press/Media: ResearchPopular

View all (1) »

Activities
  1. Developmental Medicine and Child Neurology (Journal)

    Deborah Sival (Editorial board member)
    5-Feb-2019

    Activity: Publication peer-review and editorial workPublication peer-reviewAcademic

  2. European Journal of Paediatric Neurology (Journal)

    Deborah Sival (Editorial board member)
    2018 → …

    Activity: Publication peer-review and editorial workEditorial activityAcademic

  3. European Journal of Paediatric Neurology (Journal)

    Deborah Sival (Editorial board member)
    2018 → …

    Activity: Publication peer-review and editorial workEditorial activityAcademic

View all (4) »

ID: 12648131