Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients with Cerebellar Ataxia
Ghorbani, F., De Boer, E. N., Benjamins-Stok, M., Verschuuren-Bemelmans, C. C., Knapper, J., De Boer-Bergsma, J., De Vries, J. J., Sikkema-Raddatz, B., Verbeek, D. S., Westers, H. & Van Diemen, C. C., 2-Feb-2023, In: Neurology: Genetics. 9, 1, e200050.Research output: Contribution to journal › Article › Academic › peer-review
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Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
van Noort, S. A. M., van der Veen, S., de Koning, T. J., de Koning-Tijssen, M. A. J., Verbeek, D. S. & Sival, D. A., Jul-2023, In: European Journal of Paediatric Neurology. 45, p. 47-54 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)3 Downloads (Pure) -
The pathogenetic basis for a disease continuum in early- and late-onset ataxia-dystonia supports a unified genetic diagnostic approach
Garofalo, M., Vansenne, F., Verbeek, D. S. & Sival, D. A., Mar-2023, In: European Journal of Paediatric Neurology. 43, p. 44-51 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Developmental neurobiology of cerebellar and Basal Ganglia connections
Sival, D. A., Noort, S. A. M. V., Tijssen, M. A. J., de Koning, T. J. & Verbeek, D. S., Jan-2022, In: European Journal of Paediatric Neurology. 36, p. 123-129 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)50 Downloads (Pure) -
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
Ghorbani, F., Alimohamed, M. Z., Vilacha, J. F., Van Dijk, K. K., De Boer-Bergsma, J., Fokkens, M. R., Lemmink, H., Sijmons, R. H., Sikkema-Raddatz, B., Groves, M. R., Verschuuren-Bemelmans, C. C., Verbeek, D. S., Van Diemen, C. C. & Westers, H., 25-Mar-2022, In: Frontiers in Genetics. 13, 13 p., 782685.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)28 Downloads (Pure)
Datasets
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WDR45, one gene associated with multiple neurodevelopmental disorders
Cong, Y. (Contributor), So, V. (Contributor), de Koning-Tijssen, M. (Contributor), Verbeek, D. (Contributor), Reggiori, F. (Contributor) & Mauthe, M. (Contributor), figshare Academic Research System, 12-Apr-2021
DOI: 10.6084/m9.figshare.14401601, https://tandf.figshare.com/articles/dataset/_i_WDR45_i_one_gene_associated_with_multiple_neurodevelopmental_disorders/14401601
Dataset
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WDR45, one gene associated with multiple neurodevelopmental disorders
Cong, Y. (Contributor), So, V. (Contributor), de Koning-Tijssen, M. (Contributor), Verbeek, D. (Contributor), Reggiori, F. (Contributor) & Mauthe, M. (Contributor), University of Groningen, 12-Apr-2021
DOI: 10.6084/m9.figshare.14401601.v1
Dataset
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Additional file 2 of Parkinson’s disease–associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy
Ma, K. Y. (Contributor), Fokkens, M. (Contributor), Reggiori, F. (Contributor), Mari, M. (Contributor) & Verbeek, D. (Contributor), figshare Academic Research System, 15-Jun-2021
DOI: 10.6084/m9.figshare.14782512.v1
Dataset