Liza Kok

Introduction 29 1 Nwatamole, B., Kundu, S., God-dowell O. Odukudu, Prava Basnet, & Mirza, L. (2024). Endocrine Care of a 19year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome. In: AACE Clinical Case Reports. Page, K. M., Stenger, E. O., Connelly, J. A., Shyr, D., West, T., Wood, S., Case, L., Kester, M., Shim, S., Hammond, L., Hammond, M., Webb, C., Biffi, A., Bambach, B., Fatemi, A., & Kurtzberg, J. (2019). Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. Biol Blood Marrow Transplant, 25(12), e363e374. https://doi.org/10.1016/j.bbmt.2019.09.003 Paolicelli, R. C., & Ferretti, M. T. (2017). Function and Dysfunction of Microglia during Brain Development: Consequences for Synapses and Neural Circuits. Front Synaptic Neurosci, 9, 9. https://doi.org/10.3389/fnsyn.2017.00009 Parrott, A. M., & Mathews, M. B. (2007). Novel rapidly evolving hominid RNAs bind nuclear factor 90 and display tissue-restricted distribution. Nucleic Acids Res, 35(18), 6249-6258. https://doi.org/10.1093/nar/gkm668 Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B.,…Bernard, G. (2021). Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106(2), e660-e674. https://doi.org/10.1210/clinem/dgaa700 Perrier, S., Gauquelin, L., Fallet-Bianco, C., Dishop, M. K., Michell-Robinson, M. A., Tran, L. T., Guerrero, K., Darbelli, L., Srour, M., Petrecca, K., Renaud, D. L., Saito, M., Cohen, S., Leiz, S., Alhaddad, B., Haack, T. B., Tejera-Martin, I., Monton, F. I., Rodriguez-Espinosa, N.,…Bernard, G. (2020). Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet, 6(3), e425. https://doi.org/10.1212/NXG.0000000000000425 Perrier, S., Michell-Robinson, M. A., & Bernard, G. (2020). POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches. Front Cell Neurosci, 14, 631802. https://doi.org/10.3389/fncel.2020.631802 Pinard, M., Dastpeyman, S., Poitras, C., Bernard, G., Gauthier, M. S., & Coulombe, B. (2022). Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H. Mol Brain, 15(1), 98. https://doi.org/10.1186/s13041-022-00974-z Potic, A., Brais, B., Choquet, K., Schiffmann, R., & Bernard, G. (2012). 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol, 69(7), 920-923. https://doi.org/10.1001/archneurol.2011.1963 Reddy, R., Li, W. Y., Henning, D., Choi, Y. C., Nohga, K., & Busch, H. (1981). Characterization and subcellular localization of 7-8 S RNAs of Novikoff hepatoma. J Biol Chem, 256(16), 8452-8457. Richards, M. R., Plummer, L., Chan, Y. M., Lippincott, M. F., Quinton, R., Kumanov, P., & Seminara, S. B. (2017). Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. J Med Genet, 54(1), 19-25. https://doi.org/10.1136/jmedgenet2016-104064 Rosset, R., & Monier, R. (1963). [Apropos of the presence of weak molecular weight RNA in the ribosomes of Escherichia Coli]. Biochim Biophys Acta, 68, 653-656. https://doi.org/10.1016/0006-3002(63)90199-9 Saitsu, H., Osaka, H., Sasaki, M., Takanashi, J., Hamada, K., Yamashita, A., Shibayama, H., Shiina, M., Kondo, Y., Nishiyama, K., Tsurusaki, Y., Miyake, N., Doi, H., Ogata, K., Inoue, K., & Matsumoto, N. (2011). Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-

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