I.F.M. de Coo

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Brodtkorb, E., Ostergaard, E., de Coo, I., Pias-Peleteiro, L., Isohanni, P., Uusimaa, J., Majamaa, K., Kaerppae, M., Ortigoza-Escobar, J. D., Tangeraas, T., Berland, S., Harrison, E., Biggs, H., Horvath, R., ... Bindoff, L. A. (2024). Status epilepticus in POLG disease: a large multinational study. Journal of Neurology. Advance online publication. https://doi.org/10.1007/s00415-024-12463-5

Wortmann, S. B., Feichtinger, R. G., Abela, L., van Gemert, L. A., Aubart, M., Dufeu-Berat, C.-M., Boddaert, N., de Coo, R., Stühn, L., Hebbink, J., Heinritz, W., Hildebrandt, J., Himmelreich, N., Korenke, C., Lehman, A., Leyland, T., Makowski, C., Martinez Marin, R. J., Marzin, P., ... Willemsen, M. A. (2024). Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics, 10(2), Article 200146. https://doi.org/10.1212/NXG.0000000000200146

Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B., ... van Spronsen, F. J. (2023). A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening. International Journal of Neonatal Screening, 9(4), Article 56. https://doi.org/10.3390/ijns9040056

van Eeghen, A. M., Gaasterland, C. M. W., Haneveld, M. J. K., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A., Maruani, A., Hadzsiev, K., van Balkom, I. D. C., Alhambra, N., Anderlid, B. M., Andres, S., Aten, E., Guedes, R. B., Bonaglia, M. C., Bourgeron, T., Burdeus-Olavarrieta, M., Carbin, M. J., Kuiper, E., ... European Phelan-McDermid syndrome guideline consortium (2023). Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(7), Article 104747. https://doi.org/10.1016/j.ejmg.2023.104747

Vallbona-Garcia, A., Hamers, I. H. J., van Tienen, F. H. J., Ochoteco-Asensio, J., Berendschot, T. T. J. M., de Coo, I. F. M., Benedikter, B. J., Webers, C. A. B., Smeets, H. J. M., & Gorgels, T. G. M. F. (2023). Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients. Experimental Eye Research, 232(1), Article 109500. https://doi.org/10.1016/j.exer.2023.109500

de Coo, I. F. M., Jesse, S., Le, T. L., Sala, C., & European Phelan-McDermid Syndrome Consortium (2023). Consensus recommendations on Epilepsy in Phelan-McDermid syndrome. European Journal of Medical Genetics, 66(6), Article 104746. https://doi.org/10.1016/j.ejmg.2023.104746

Vallbona-Garcia, A., Lindsey, P. J., Kamps, R., Stassen, A. P. M., Nguyen, N., van Tienen, F. H. J., Hamers, I. H. J., Hardij, R., van Gisbergen, M. W., Benedikter, B. J., de Coo, I. F. M., Webers, C. A. B., Gorgels, T. G. M. F., & Smeets, H. J. M. (2023). Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup. Frontiers in Ophthalmology, 3, Article 1309836. https://doi.org/10.3389/fopht.2023.1309836

Bjorkman, K., Vissing, J., Ostergaard, E., Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M., & Darin, N. (2023). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of Medical Genetics, 60(1), 65-73. https://doi.org/10.1136/jmedgenet-2021-108006

Parasyri, M., Brandstroem, P., Uusimaa, J., Ostergaard, E., Hikmat, O., Isohanni, P., Naess, K., de Coo, I. F. M., Osorio, A. N., Nuutinen, M., Lindberg, C., Bindoff, L. A., Tulinius, M., Darin, N., & Sofou, K. (2022). Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Diseases, 8(2), 148–159. https://doi.org/10.1159/000521148

Haast, R. A. M., De Coo, I. F. M., Ivanov, D., Khan, A. R., Jansen, J. F. A., Smeets, H. J. M., & Uludağ, K. (2022). Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients. Brain Communications, 4(1), Article fcac024. https://doi.org/10.1093/braincomms/fcac024