Persoonlijk profiel
Expertise gerelateerd aan duurzame ontwikkelingsdoelstellingen van de VN
In 2015 stemden de VN-lidstaten in met 17 wereldwijde duurzame ontwikkelingsdoelstellingen (Sustainable Development Goals, SDG's) om armoede te beëindigen, de planeet te beschermen en voor iedereen welvaart te garanderen. Het werk van deze persoon draagt bij aan de volgende duurzame ontwikkelingsdoelstelling(en):
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SDG 3 – Goede gezondheid en welzijn
Vingerafdruk
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
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Corrigendum to “Genetics of upper limb tremor in clinical practice: a systematic literature review” [Parkinsonism and Related disorders volume “in press” (2025) PRD 107981] (Parkinsonism and Related Disorders (2025) 139, (S1353802025007229), (10.1016/j.parkreldis.2025.107981))
Everlo, C. S. J., Tijssen, M. A. J., Emre, B., Heida, S. A. J., Marras, C., Klein, C., de Vries, J., Verschuuren-Bemelmans, C. C., Verbeek, D. S., de Koning, T. J. & van der Stouwe, A. M. M., nov.-2025, In: Parkinsonism and related Disorders. 140, 1 blz., 108050.Onderzoeksoutput: Erratum
Open AccessBestand6 Downloads (Pure) -
Eye movement disorders in genetic dystonia syndromes: A literature overview
Pollini, L., Pettenuzzo, I., Tijssen, M. A. J., Koens, L. H., De Koning, T. J., Leuzzi, V. & Eggink, H., apr.-2025, In: Parkinsonism & Related Disorders. 133, 8 blz., 107325.Onderzoeksoutput › peer review
Open AccessBestand3 Citaten (Scopus)46 Downloads (Pure) -
Genetics of upper limb tremor in clinical practice: a systematic literature review
Everlo, C. S. J., Tijssen, M. A. J., Emre, B., Heida, S. A. J., Marras, C., Klein, C., de Vries, J., Verschuuren-Bemelmans, C. C., Verbeek, D. S., de Koning, T. J. & van der Stouwe, A. M. M., okt.-2025, In: Parkinsonism & Related Disorders. 139, 12 blz., 107981.Onderzoeksoutput › peer review
Open AccessBestand3 Downloads (Pure) -
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy
Schoenmakers, D. H., Asbreuk, M. A. B. C., Martin, T., Datema, M., Beerepoot, S., Inbar-Feigenberg, M., Groeschel, S., Kehrer, C., Øberg, A., Sevin, C., Fumagalli, F., Bergner, C. G., Vieira, P., Bley, A., Uusimaa, J., Horn, M. A., Brožová, K., Stögmann, E., Pichler, H. & Lüftinger, R. & 19 anderen, , jul.-2025, In: European Journal of Paediatric Neurology. 57, blz. 72-81 10 blz.Onderzoeksoutput: Article › Academic › peer review
Open AccessBestand2 Citaten (Scopus)8 Downloads (Pure) -
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
Asbreuk, M. A. B. C., Schoenmakers, D. H., Adang, L. A., Beerepoot, S., Bergner, C., Bley, A., Boelens, J. J., Bugiani, M., Calbi, V., García-Cazorla, À., Eklund, E. A., Fumagalli, F., Grønborg, S. W., Groeschel, S., Van Hasselt, P. M., Hollak, C. E. M., Jones, S. A., De Koning, T. J., Van Kuilenburg, A. B. P. & Laugwitz, L. & 10 anderen, , 27-jun.-2025, In: Neurology. 105, 2, 13 blz., e213817.Onderzoeksoutput › peer review
Open AccessBestand3 Citaten (Scopus)5 Downloads (Pure)
Activiteiten
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Treatable dystonias & dystonia in inborn errors of metabolism
de Koning, T. (Speaker)
28-sep.-2022Activiteit: Professional or public presentation › Professional
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Amino acid synthesis and transport disorders
de Koning, T. (Speaker)
15-mei-2022Activiteit: Professional or public presentation › Professional
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Genetische diagnostiek in de praktijk
de Koning, T. (Speaker)
3-nov.-2022Activiteit: Professional or public presentation › Professional
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Amino acid synthesis disorders
de Koning, T. (Speaker)
29-sep.-2022Activiteit: Professional or public presentation › Professional
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Translational movement disorders
Koning, de, T. (Invited speaker)
2019Activiteit: Academic presentation › Academic
Datasets
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. J. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Creator), Abbott, K. (Creator), Knopperts, A. (Creator), Franke, L. (Creator), Sijmons, R. (Creator), de Koning, T. J. (Contributor), Wijmenga, C. (Creator), Sinke, R. (Creator) & Swertz, M. (Creator), figshare, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d4
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. J. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset
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Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van Diemen, C. (Contributor), Wijmenga, C. (Contributor), Franke, L. (Contributor), van der Velde, J. (Contributor), Sinke, R. (Contributor), Swertz, M. (Contributor), Raddatz, B. (Contributor), de Boer, E. (Contributor), Knopperts, A. (Contributor), de Koning, T. J. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. J. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-jan.-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.v1
Dataset
Knipsels
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Geld voor onderzoek naar Noordzeeziekte, hoop op genezing van de zeldzame 'Friese' aandoening
03/03/2024
1 Mediabijdrage
Pers / media: Expert Comment › Popular
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Revolutionaire techniek geeft hoop: onderzoeker Sabine Fuchs repareert DNA om Noordzeeziekte te genezen
22/12/2023
1 Mediabijdrage
Pers / media: Expert Comment › Popular
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Centre of expertise and the organisation of patient day for rare movement disorders
18/05/2019
2 Mediabijdrages
Pers / media: Expert Comment › Popular
Prijzen
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Dutch Society for Neurology, prize for best paper on movement disorders
Koning, de, T. (Recipient), 2017
Prijs: Prize › Academic
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Dutch Society for Neurology, Prize for best paper on Movement Disorders in 2013-2014
Koning, de, T. (Recipient), 2015
Prijs: Prize › Academic
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prize for best paper Dutch Society for Inborn Errors of Metabolism
Koning, de, T. (Recipient), 2012
Prijs: Prize › Academic
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