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CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Schaffer, A. E., Eggens, V. R. C., Caglayan, A. O., Reuter, M. S., Scott, E., Coufal, N. G., Silhavy, J. L., Xue, Y., Kayserili, H., Yasuno, K., Rosti, R. O., Abdellateef, M., Caglar, C., Kasher, P. R., Cazemier, J. L., Weterman, M. A., Cantagrel, V., Cai, N., Zweier, C., Altunoglu, U., & 13 others, 2014, In: Cell. 157, 3, p. 651-663Research output: Contribution to journal › Article › Academic › peer-review
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Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
Weterman, M. A. J., Barth, P. G., van Spaendonck-Zwarts, K. Y., Aronica, E., Poll-The, B-T., Brouwer, O. F., van Tintelen, J. P., Qahar, Z., Bradley, E. J., de Wissel, M., Salviati, L., Angelini, C., van den Heuvel, L., Thomasse, Y. E. M., Backx, A. P., Nürnberg, G., Nürnberg, P. & Baas, F., 2013, In: Brain. 136, 1, p. 282-293Research output: Contribution to journal › Article › Academic › peer-review
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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
Weterman, M. A. J., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G. M., Fluiter, K., de Wissel, M. B., Sizarov, A., Nürnberg, G., Nürnberg, P., Zelcer, N., Schelhaas, H. J. & Baas, F., 2012, In: Human Molecular Genetics. 21, 2, p. 358-370Research output: Contribution to journal › Article › Academic › peer-review
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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage
Rutten, J. W., Cerfontaine, M. N., Dijkstra, K. L., Mulder, A. A., Vreijling, J., Kruit, M., Koning, R. I., de Bot, S. T., van Nieuwenhuizen, K. M., Baelde, H. J., Berendse, H. W., Mei, L. H., Ruijter, G. J. G., Baas, F., Jost, C. R., van Duinen, S. G., Nibbeling, E. A. R., Gravesteijn, G. & Lesnik Oberstein, S. A. J., 1 Jun 2024, In: Genetics in medicine. 26, 6, 101105.Research output: Contribution to journal › Article › Academic › peer-review
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Minocycline for sporadic and hereditary cerebral amyloid angiopathy (BATMAN): study protocol for a placebo-controlled randomized double-blind trial
Voigt, S., Koemans, E. A., Rasing, I., van Etten, E. S., Terwindt, G. M., Baas, F., Kaushik, K., van Es, A. C. G. M., van Buchem, M. A., van Osch, M. J. P., van Walderveen, M. A. A., Klijn, C. J. M., Verbeek, M. M., van der Weerd, L. & Wermer, M. J. H., Dec 2023, In: Trials. 24, 1, p. 378 378.Research output: Contribution to journal › Article › Academic › peer-review
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CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids
Buck, T. M., Quinn, P. M. J., Pellissier, L. P., Mulder, A. A., Jongejan, A., Lu, X., Boon, N., Koot, D., Almushattat, H., Arendzen, C. H., Vos, R. M., Bradley, E. J., Freund, C., Mikkers, H. M. M., Boon, C. J. F., Moerland, P. D., Baas, F., Koster, A. J., Neefjes, J., Berlin, I., & 2 others, 12 Sept 2023, In: Stem cell reports. 18, 9, p. 1793-1810 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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