Amsterdam Neuroscience

Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

Kaiser, N., Magg, J., Nägele, T., Wolf, N. & Krägeloh-Mann, I., 1 Dec 2025, In: Orphanet journal of rare diseases. 20, 1, p. 139 139.

Research output: Contribution to journal › Review article* › Academic › peer-review

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

Groeneweg, S., van Geest, F. S., Martín, M., Dias, M., Frazer, J., Medina-Gomez, C., Sterenborg, R. B. T. M., Wang, H., Dolcetta-Capuzzo, A., de Rooij, L. J., Teumer, A., Abaci, A., van den Akker, E. L. T., Ambegaonkar, G. P., Armour, C. M., Bacos, I., Bakhtiani, P., Barca, D., Bauer, A. J. & van den Berg, S. A. A. & 102 others, van den Berge, A., Bertini, E., van Beynum, I. M., Brunetti-Pierri, N., Brunner, D., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Chesover, A., Christian, P., Coenen-van der Spek, J., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dewey, C., Dica, A., Dimitri, P., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., Garibaldi, L., George, B., Gevers, E. F., Greenup, E., Hackenberg, A., Halász, Z., Heinrich, B., Hurst, A. C., Huynh, T., Isaza, A. R., Klosowska, A., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Kulkarni, A., Laemmle, A., LaFranchi, S. H., Lawson-Yuen, A., Lebl, J., Leeuwenburgh, S., Linder-Lucht, M., López Martí, A., Lorea, C. F., Lourenço, C. M., Lunsing, R. J., Lyons, G., Malikova, J. K., Mancilla, E. E., McCormick, K. L., McGowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Nicol, L. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Seckold, R., Seven Menevse, T., Simm, P., Simon, A., Singh, Y., Spada, M., Stals, M. A. M., Stegenga, M. T., Stoupa, A., Subramanian, G. M., Szeifert, L., Tonduti, D., Turan, S., Vanderniet, J., van der Walt, A., Wémeau, J.-L., van Wermeskerken, A.-M., Wierzba, J., de Wit, M.-C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Rivadeneira, F., Meima, M. E., Marks, D. S., Nicola, J. P., Chen, C.-H., Medici, M. & Visser, W. E., Dec 2025, In: Nature communications. 16, 1, p. 2479 2479.

Research output: Contribution to journal › Article* › Academic › peer-review

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy

Schoenmakers, D. H., Asbreuk, M. A. B. C., Martin, T., Datema, M., Beerepoot, S., Inbar-Feigenberg, M., Groeschel, S., Kehrer, C., Øberg, A., Sevin, C., Fumagalli, F., Bergner, C. G., Vieira, P., Bley, A., Uusimaa, J., Horn, M. A., Brožová, K., Stögmann, E., Pichler, H. & Lüftinger, R. & 19 others, Eklund, E. A., Mochel, F., Adang, L. A., Laugwitz, L., Boelens, J. J., Calbi, V., Darling, A., García-Cazorla, Á., Grønborg, S. W., Lindemans, C. A., van Hasselt, P. M., Hollak, C. E. M., de Koning, T. J., Ram, D., Dekker, H., Schöls, L., Zerem, A., Graessner, H. & Wolf, N. I., Jul 2025, In: European Journal of Paediatric Neurology. 57, p. 72-81 10 p.

Research output: Contribution to journal › Article* › Academic › peer-review