Badrock, A.P., Uggenti, C., Wacheul, L., Crilly, S., Jenkinson, E.M., Rice, G.I., Kasher, P.R., Lafontaine, D.L.J., Crow, Y.J., O'Keefe, R.T. (2020) Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. American journal of human genetics. 106(5):694-706
|
Pérez-Rius, C., Folgueira, M., Elorza-Vidal, X., Alia, A., Hoegg-Beiler, M.B., Eeza, M.N.H., Díaz, M.L., Nunes, V., Barrallo-Gimeno, A., Estévez, R. (2019) Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit. Orphanet journal of rare diseases. 14:268
|