Liza Kok

Introduction 31 1 Timmons, M., Tsokos, M., Asab, M. A., Seminara, S. B., Zirzow, G. C., Kaneski, C. R., Heiss, J. D., van der Knaap, M. S., Vanier, M. T., Schiffmann, R., & Wong, K. (2006). Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology, 67(11), 2066-2069. https://doi.org/10.1212/01.wnl.0000247666.28904.35 Torii, T., Miyamoto, Y., Yamauchi, J., & Tanoue, A. (2014). Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy. Pediatr Int, 56(5), 659-666. https://doi.org/10.1111/ped.12450 van den Broek, B. T. A., Page, K., Paviglianiti, A., Hol, J., Allewelt, H., Volt, F., Michel, G., Diaz, M. A., Bordon, V., O'Brien, T., Shaw, P. J., Kenzey, C., Al-Seraihy, A., van Hasselt, P. M., Gennery, A. R., Gluckman, E., Rocha, V., Ruggeri, A., Kurtzberg, J., & Boelens, J. J. (2018). Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies. Blood Adv, 2(1), 49-60. https://doi.org/10.1182/bloodadvances.2017010645 van der Knaap, M. S., & Bugiani, M. (2017). Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol, 134(3), 351-382. https://doi.org/10.1007/s00401-017-1739-1 van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019). Diagnosis, prognosis, and treatment of leukodystrophies. The Lancet Neurology, 18(10), 962-972. https://doi.org/10.1016/s14744422(19)30143-7 Watson, J. B., & Sutcliffe, J. G. (1987). Primate brain-specific cytoplasmic transcript of the Alu repeat family. Mol Cell Biol, 7(9), 3324-3327. https://doi.org/10.1128/mcb.7.9.3324-3327.1987 Wolf, N. I. (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology, 83, 1898-1905. https://doi.org/10.1212/WNL.0000000000001002 Wolf, N. I., Ffrench-Constant, C., & van der Knaap, M. S. (2021). Hypomyelinating leukodystrophies - unravelling myelin biology. Nat Rev Neurol, 17(2), 88-103. https://doi.org/10.1038/s41582-020-004321 Wolf, N. I., Harting, I., Boltshauser, E., Wiegand, G., Koch, M. J., Schmitt-Mechelke, T., Martin, E., Zschocke, J., Uhlenberg, B., Hoffmann, G. F., Weber, L., Ebinger, F., & Rating, D. (2005). Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology, 64(8), 1461-1464. https://doi.org/10.1212/01.WNL.0000158615.56071.E3 Wolf, N. I., Harting, I., Innes, A. M., Patzer, S., Zeitler, P., Schneider, A., Wolff, A., Baier, K., Zschocke, J., Ebinger, F., Boltshauser, E., & Rating, D. (2007). Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics, 38(2), 64-70. https://doi.org/10.1055/s-2007-985137 Yang, N., Chanda, S., Marro, S., Ng, Y. H., Janas, J. A., Haag, D., Ang, C. E., Tang, Y., Flores, Q., Mall, M., Wapinski, O., Li, M., Ahlenius, H., Rubenstein, J. L., Chang, H. Y., Buylla, A. A., Sudhof, T. C., & Wernig, M. (2017). Generation of pure GABAergic neurons by transcription factor programming. Nat Methods, 14(6), 621-628. https://doi.org/10.1038/nmeth.4291 Yoon Han, J., Gon Cho, Y., Park, J., & Jang, W. (2022). A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy. Clin Chim Acta, 533, 15-21. https://doi.org/10.1016/j.cca.2022.06.007 Zhang, Y., Pak, C., Han, Y., Ahlenius, H., Zhang, Z., Chanda, S., Marro, S., Patzke, C., Acuna, C., Covy, J., Xu, W., Yang, N., Danko, T., Chen, L., Wernig, M., & Sudhof, T. C. (2013). Rapid single-step induction of functional neurons from human pluripotent stem cells. Neuron, 78(5), 785-798. https://doi.org/10.1016/j.neuron.2013.05.029

RkJQdWJsaXNoZXIy MTk4NDMw