Bregje Jaeger

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Research Output 2017 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 othersPisani, 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

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., 1 Jan 2019, In : Pediatric Neurology.

Research output: Contribution to journalArticleAcademicpeer-review

RARS2 mutations: Is pontocerebellar hypoplasia type 6 a mitochondrial encephalopathy?

van Dijk, T., van Ruissen, F., Jaeger, B., Rodenburg, R. J., Tamminga, S., van Maarle, M., Baas, F., Wolf, N. I. & Poll-The, B. T., 2017, JIMD Reports. Springer, Vol. 33. p. 87-92 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review