Tom J de Koning

Professor

Research areas and keywords

UKÄ subject classification

  • Pediatrics

Keywords

  • Metabolic diseases, Movement disorders, Neurogenetics, Next Generation Sequencing

Recent research outputs

North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
Lambrechts, R. A., Polet, S. S., Hernandez-Pichardo, A., van Ninhuys, L., Gorter, J. A., Grzeschik, N. A., de Koning-Tijssen, M. A. J., Tom J. de Koning & Sibon, O. C. M., 2019 Dec 15, In : Neuroscience. 423, p. 1-11 11 p.

Research output: Contribution to journal › Article

Identification of human D lactate dehydrogenase deficiency
Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 2019 Dec 1, In : Nature Communications. 10, 1, 1477.

Research output: Contribution to journal › Article

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force
van der Veen, S., Zutt, R., Klein, C., Marras, C., Berkovic, S. F., Caviness, J. N., Shibasaki, H., Tom J. de Koning & Tijssen, M. A. J., 2019 Nov 1, In : Movement Disorders. 34, 11, p. 1602-1613 12 p.

Research output: Contribution to journal › Review article

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Tom J de Koning

Professor

Affiliations

Additional contact details