Bregje Jaeger

20172020

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  • 2020

    KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

    Pennings, M., Schouten, M. I., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., van Spaendonck-Zwarts, K. Y., Die-Smulders, C. D., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K., Duijkers, F. A. & 4 others, Jaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E. J., 1 Jan 2020, In: European Journal of Human Genetics. 28, 1, p. 40-49 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid

    Lubout, C. M. A., Goorden, S. M. I., van den Hurk, K., Jaeger, B., Jager, N. G. L., van Koningsbruggen, S., Chegary, M. & van Karnebeek, C. D. M., Jan 2020, In: Pediatric Neurology. 102, p. 62-66 5 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2019

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S. & 40 others, Pisani, L., Bettencourt, C., Männikkö, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J-H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Llorente, C., Skabar, A., Chez, M., Choi, M., Macaya, A., Rothman, J. E., Eichler, E. E., Kullmann, D. M., Houlden, H. & SYNAPS Study Group, 1 Dec 2019, In: Nature Communications. 10, 1, 3094.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access