Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
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Association between Lysine Reduction Therapies and Cognitive Outcomes in Patients with Pyridoxine-Dependent Epilepsy
Coughlin, C. R., Tseng, L. A., Bok, L. A., Hartmann, H., Footitt, E., Striano, P., Tabarki, B. M., Lunsing, R. J., Stockler-Ipsiroglu, S., Gordon, S., Van Hove, J. L. K., Abdenur, J. E., Boyer, M., Longo, N., Andrews, A., Janssen, M. C. H., van Wegberg, A., Prasad, C., Prasad, A. N., Lamb, M. M., & 3 anderen, 6-dec.-2022, In: Neurology. 99, 23, blz. E2627-E2636 11 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand6 Citaten (Scopus)27 Downloads (Pure) -
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
Oh, R. Y., Deshwar, A. R., Marwaha, A., Sabha, N., Tropak, M., Hou, H., Yuki, K. E., Wilson, M. D., Rump, P., Lunsing, R., Elserafy, N., Chung, C. W. T., Hewson, S., Klein-Rodewald, T., Calzada-Wack, J., Moreno, A. S., Kraiger, M., Marschall, S., Fuchs, H., Gailus-Durner, V., & 3 anderen, nov.-2022, In: Genetics in Medicine. 24, 11, blz. 2399-2407 9 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand3 Citaten (Scopus)41 Downloads (Pure) -
Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients
Koens, L. H., Tuitert, I., Blokzijl, H., Engelen, M., Klouwer, F. C. C., Lange, F., Leen, W. G., Lunsing, R. J., Koelman, J. H. T. M., Verrips, A., de Koning, T. J. & Tijssen, M. A. J., 2022, In: Journal of Inherited Metabolic Disease. 45, 5, blz. 981-995 15 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand31 Downloads (Pure) -
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Tseng, L. A., Abdenur, J. E., Andrews, A., Aziz, V. G., Bok, L. A., Boyer, M., Buhas, D., Hartmann, H., Footitt, E. J., Gronborg, S., Janssen, M. C. H., Longo, N., Lunsing, R. J., MacKenzie, A. E., Wijburg, F. A., Gospe, S. M., Coughlin, C. R. & van Karnebeek, C. D. M., apr.-2022, In: Molecular Genetics and Metabolism. 135, 4, blz. 350-356 7 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand9 Citaten (Scopus)65 Downloads (Pure) -
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study
Strijker, M., Tseng, L. A., van Avezaath, L. K., Luttikhuis, M. A. M. O., Ketelaar, T., Coughlin, C. R., Coenen, M. A., van Spronsen, F. J., Williams, M., de Vries, M. C., Westerlaan, H. E., Bok, L. A., van Karnebeek, C. D. M. & Lunsing, R. J., jul.-2021, In: European Journal of Paediatric Neurology. 33, blz. 112-120 9 blz.Onderzoeksoutput › Academic › peer review
Open AccessBestand7 Citaten (Scopus)54 Downloads (Pure)