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Keywords

  • RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

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  • Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

    Schoenmakers, D. H., Beerepoot, S., Adang, L. A., Asbreuk, M. A. B. C., Bergner, C. G., Bley, A. E., Boelens, J.-J., Calbi, V., Darling, A., Eklund, E., García Cazorla, Á., Grønborg, S. W., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Horgan, C., Jones, S., de Koning, T., Laugwitz, L. & Lindemans, C. & 9 others, Martin, P., Mochel, F., Øberg, A., Ram, D., Sevin, C., Schöls, L., Zerem, A., Wolf, N. I. & Fumagalli, F., 1 Jan 2025, In: Protein and Cell. 16, 1, p. 12-15 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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  • 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 journalArticleAcademicpeer-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 journalArticleAcademicpeer-review

    Open Access
  • 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 journalReview articleAcademicpeer-review

    Open Access
    File
  • The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

    Gavazzi, F., Charsar, B., Hamilton, E., Erler, J. A., Patel, V., Woidill, S., Sevagamoorthy, A., Helman, G., Schmidt, J., Pizzino, A., Muirhead, K., Takanohashi, A., Bonkowsky, J. L., Meyerhoffer, K., Simons, C., Doi, H., Satoko, M., Matsumoto, N., Delgado, M. R. & Sanchez-Castillo, M. & 23 others, Wang, J., de Carvalho, D. R., Tournev, I., Chamova, T., Jordanova, A., Clegg, N. J., Nicita, F., Bertini, E., Teng, M., Williams, D., Tonduti, D., Houlden, H., Stellingwerff, M., Wassmer, E., Garcia-Cazorla, A., Bernard, G., Mirchi, A., Toutounchi, H., Wolf, N. I., van der Knaap, M. S., Shults, J., Adang, L. A. & Vanderver, A. L., 1 Mar 2025, In: Molecular genetics and metabolism. 144, 3, 109048.

    Research output: Contribution to journalArticleAcademicpeer-review