Research output per year
Research output per year
Network
Recent external collaboration on country level. Dive into details by clicking on the dots or
Research output
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Cross-disease analysis of depression, ataxia and dystonia highlights a role for synaptic plasticity and the cerebellum in the pathophysiology of these comorbid diseases
Huang, M., de Koning, T. J., Tijssen, M. A. J. & Verbeek, D. S., 1-Jan-2021, In: Biochimica et biophysica acta-Molecular basis of disease. 1867, 1, 11 p., 165976.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
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 journal › Article › Academic › peer-review
Open AccessFile -
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. 28, 6, p. 763-769 7 p.Research output: Contribution to journal › Article › Academic › peer-review
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Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology
Sival, D. A., Garofalo, M., Brandsma, R., Bokkers, T. A., van den Berg, M., de Koning, T. J., Tijssen, M. A. J. & Verbeek, D. S., Dec-2020, In: Diagnostics. 10, 12, 17 p., 997.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
Ulmanová, O., Koens, L. H., Jahnová, H., de Vries, J. J., de Koning, T. J., Růžička, E. & Tijssen, M. A. J., 1-Sep-2020, In: Movement Disorders Clinical Practice. 7, S3, p. S85-S88 4 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile
Activities
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Translational pediatric movement disorders
Tom Koning, de (Invited speaker)
2019Activity: Talk and presentation › Academic event › Academic
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Undiagnosed inborn errors in the NGS area
Tom Koning, de (Invited speaker)
2019Activity: Talk and presentation › Academic event › Academic
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Translational movement disorders
Tom Koning, de (Invited speaker)
2019Activity: Talk and presentation › Academic event › Academic
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Frontiers in Pediatrics (Journal)
Tom Koning, de (Editor)
2019 → …Activity: Peer-review and editorial work › Editorial work › Academic
Prizes
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Dutch Society for Neurology, prize for best paper on movement disorders
de Koning, Tom (Recipient), 2017
Prize › Academic
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Dutch Society for Neurology, Prize for best paper on Movement Disorders in 2013-2014
de Koning, Tom (Recipient), 2015
Prize › Academic
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prize for best paper Dutch Society for Inborn Errors of Metabolism
de Koning, Tom (Recipient), 2012
Prize › Academic
Press / Media
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Centre of expertise and the organisation of patient day for rare movement disorders
18/05/2019
2 Media contributions
Press/Media: Expert Comment › Popular
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How to reduce the burden of administration and bureaucracy
01/05/2019
1 Media contribution
Press/Media: Expert Comment › Professional
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