Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Fingerprint
Dive into the research topics where Tom de Koning is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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
-
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 p., 107325.Research output: Contribution to journal › Review article › peer-review
Open AccessFile5 Downloads (Pure) -
Quality of Life, Anxiety and Depressive Symptoms in North Sea–Progressive Myoclonus Epilepsy: A Comparative Analysis With Other Hyperkinetic Movement Disorders
Polet, S. S., Bent, T., Tijssen, M. A. J., de Koning, T. J. & Timmers, E. R., 17-Mar-2025, In: Acta neurologica Scandinavica. 2025, 10 p., 3302536.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review
Janzing, A. M., Eklund, E., De Koning, T. J. & Eggink, H., Apr-2024, In: Pediatric neurology. 153, p. 144-151 8 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile3 Citations (Scopus)158 Downloads (Pure) -
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
Polet, S. S., de Koning, T. J., Lambrechts, R. A., Tijssen, M. A. J., Sibon, O. C. M. & Gorter, J. A., Jul-2024, In: EPILEPSY RESEARCH. 203, 7 p., 107380.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)42 Downloads (Pure) -
The natural history of progressive myoclonus ataxia
van der Veen, S., Eggink, H., Elting, J. W. J., Sival, D., Verschuuren-Bemelmans, C. C., de Koning, T. J. & Tijssen, M. A. J., Sept-2024, In: Neurobiology of Disease. 199, 12 p., 106555.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)50 Downloads (Pure)
Activities
-
Amino acid synthesis disorders
de Koning, T. (Speaker)
29-Sept-2022Activity: Talk and presentation › Professional or public presentation › Professional
-
Genetische diagnostiek in de praktijk
de Koning, T. (Speaker)
3-Nov-2022Activity: Talk and presentation › Professional or public presentation › Professional
-
Treatable dystonias & dystonia in inborn errors of metabolism
de Koning, T. (Speaker)
28-Sept-2022Activity: Talk and presentation › Professional or public presentation › Professional
-
Amino acid synthesis and transport disorders
de Koning, T. (Speaker)
15-May-2022Activity: Talk and presentation › Professional or public presentation › Professional
-
European Metabolic Group meeting
Koning, de, T. (Invited speaker)
23-May-2019 → 25-May-2019Activity: Talk and presentation › Academic presentation › Academic
Datasets
-
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
-
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
-
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
-
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
-
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
Press/Media
-
Geld voor onderzoek naar Noordzeeziekte, hoop op genezing van de zeldzame 'Friese' aandoening
03/03/2024
1 Media contribution
Press/Media: Expert Comment › Popular
-
Revolutionaire techniek geeft hoop: onderzoeker Sabine Fuchs repareert DNA om Noordzeeziekte te genezen
22/12/2023
1 Media contribution
Press/Media: Expert Comment › Popular
-
-
-
Centre of expertise and the organisation of patient day for rare movement disorders
18/05/2019
2 Media contributions
Press/Media: Expert Comment › Popular
Prizes
-
Dutch Society for Neurology, prize for best paper on movement disorders
Koning, de, T. (Recipient), 2017
Prize › Academic
-
Dutch Society for Neurology, Prize for best paper on Movement Disorders in 2013-2014
Koning, de, T. (Recipient), 2015
Prize › Academic
-
prize for best paper Dutch Society for Inborn Errors of Metabolism
Koning, de, T. (Recipient), 2012
Prize › Academic
-