Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-00804-7.pdf
Reference50 articles.
1. Lasser M, Tiber J, Lowery LA. The role of the microtubule cytoskeleton in neurodevelopmental disorders. Front Cell Neurosci. 2018;12:165.
2. Lopata MA, Cleveland DW. In vivo microtubules are copolymers of available beta-tubulin isotypes: localization of each of six vertebrate beta-tubulin isotypes using polyclonal antibodies elicited by synthetic peptide antigens. J Cell Biol. 1987;105:1707–20.
3. Tilney LG, Bryan J, Bush DJ, Fujiwara K, Mooseker MS, Murphy DB, et al. Microtubules: evidence for 13 protofilaments. J Cell Biol. 1973;59:267–75.
4. Mitchison T, Kirschner M. Dynamic instability of microtubule growth. Nature. 1984;312:237–42.
5. Fulton C, Simpson P. Selective synthesis and utilization of flagellar tubulin. The multi-tubulin hypothesis. Cell Motil. 1976;3:987–1005.
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