Tom de Koning

112 Article
30 Review article
5 Letter
4 Meeting Abstract
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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 Access
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13 Downloads (Pure)
Serotonergic system in vivo with [C-11]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients
Timmers, E. R., Peretti, D. E., Smit, M., de Jong, B. M., Dierckx, R. A. J. O., Kuiper, A., de Koning, T. J., Vállez García, D. & Tijssen, M. A. J., 15-Apr-2022, In: Scientific Reports. 12, 1, 9 p., 6292.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?
Mposhi, A., Liang, L., Mennega, K. P., Yildiz, D., Kampert, C., Hof, I. H., Jellema, P. G., de Koning, T. J., Faber, K. N., Ruiters, M. H. J., Niezen-Koning, K. E. & Rots, M. G., 16-Feb-2022, In: International Journal of Molecular Sciences. 23, 4, 19 p., 2197.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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6 Downloads (Pure)
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, E., Chakrabarty, S., Kellaris, G., Tsutsumi, M., Bianco, F., Bergamini, C., Ullah, F., Isidori, F., Liparulo, I., Diquigiovanni, C., Masin, L., Rizzardi, N., Cratere, M. G., Boschetti, E., Papa, V., Maresca, A., Cenacchi, G., Casadio, R., Martelli, P., Matera, I. & 47 others, Ceccherini, I., Fato, R., Raiola, G., Arrigo, S., Signa, S., Sementa, A. R., Severino, M., Striano, P., Fiorillo, C., Goto, T., Uchino, S., Oyazato, Y., Nakamura, H., Mishra, S. K., Yeh, Y-S., Kato, T., Nozu, K., Tanboon, J., Morioka, I., Nishino, I., Toda, T., Goto, Y-I., Ohtake, A., Kosaki, K., Yamaguchi, Y., Nonaka, I., Iijima, K., Mimaki, M., Kurahashi, H., Raams, A., MacInnes, A., Alders, M., Engelen, M., Linthorst, G., de Koning, T., den Dunnen, W., Dijkstra, G., van Spaendonck, K., van Gent, D. C., Aronica, E. M., Picco, P., Carelli, V., Seri, M., Katsanis, N., Duijkers, F. A. M., Taniguchi-Ikeda, M. & De Giorgio, R., May-2021, In: Brain : a Journal of Neurology. 144, 5, p. 1451- 1466 16 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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1 Citation (Scopus)

19 Downloads (Pure)
Case Report: “Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy”
van Verseveld, M., Koens, L. H., de Koning, T. J., Derikx, R. L. E. & van Waarde, J. A., 22-Oct-2021, In: Frontiers in Psychiatry. 12, 4 p., 745734.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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8 Downloads (Pure)

5 Academic event
2 Editorial work
2 Hosting a visitor
1 Membership

Frontiers in Neurology (Journal)
Tom Koning, de (Editor)
2019 → …
Activity: Peer-review and editorial work › Editorial work › Academic
Translational pediatric movement disorders
Tom Koning, de (Invited speaker)
2019
Activity: Talk and presentation › Academic presentation › Academic
European Metabolic Group meeting
Tom Koning, de (Invited speaker)
23-May-2019 → 25-May-2019
Activity: Talk and presentation › Academic presentation › Academic
Translational movement disorders
Tom Koning, de (Invited speaker)
2019
Activity: Talk and presentation › Academic presentation › Academic
Undiagnosed inborn errors in the NGS area
Tom Koning, de (Invited speaker)
2019
Activity: Talk and presentation › Academic presentation › Academic

Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. N. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (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 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. (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

MD PhD project on GOSR2 disease
Tom Koning, de
24/12/2019
1 Media contribution
Press/Media: Expert Comment › Popular
Pathogenesis of North Sea myoclonus
Tom Koning, de
28/11/2019
2 Media contributions
Press/Media: Research › Popular
Centre of expertise and the organisation of patient day for rare movement disorders
Tom Koning, de
18/05/2019
2 Media contributions
Press/Media: Expert Comment › Popular
How to reduce the burden of administration and bureaucracy
Tom Koning, de
01/05/2019
1 Media contribution
Press/Media: Expert Comment › Professional
Research on GOSR2
Tom Koning, de
23/04/2019
1 Media contribution
Press/Media: Expert Comment › Popular

Dutch Society for Neurology, prize for best paper on movement disorders
de Koning, Tom (Recipient), 2017
Prize › Academic
Dutch Society for Neurology, Prize for best paper on Movement Disorders in 2013-2014
de Koning, Tom (Recipient), 2015
Prize › Academic
International Horst-Bickel Award
de Koning, Tom (Recipient), 2004
Prize › Academic
prize for best paper Dutch Society for Inborn Errors of Metabolism
de Koning, Tom (Recipient), 2012
Prize › Academic

Tom de Koning

Network

Dive into details

Developmental neurobiology of cerebellar and Basal Ganglia connections

Serotonergic system in vivo with [C-11]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients

The Mitochondrial Epigenome: An Unexplored Avenue to Explain Unexplained Myopathies?

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Case Report: “Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy”

Frontiers in Neurology (Journal)

Translational pediatric movement disorders

European Metabolic Group meeting

Translational movement disorders

Undiagnosed inborn errors in the NGS area

Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

MD PhD project on GOSR2 disease

Pathogenesis of North Sea myoclonus

Centre of expertise and the organisation of patient day for rare movement disorders

How to reduce the burden of administration and bureaucracy

Research on GOSR2

Dutch Society for Neurology, prize for best paper on movement disorders

Dutch Society for Neurology, Prize for best paper on Movement Disorders in 2013-2014

International Horst-Bickel Award

prize for best paper Dutch Society for Inborn Errors of Metabolism

Tom de Koning

Network

Research output

Activities

Datasets

Press / Media

Prizes