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A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L, Thorel A, Mouisel E, Fonknechten N, Roblot N, Seilhean D, Diérich A, Hauw JJ, Melki J. Tarrade A, et al. Among authors: courageot s. Hum Mol Genet. 2006 Dec 15;15(24):3544-58. doi: 10.1093/hmg/ddl431. Epub 2006 Nov 13. Hum Mol Genet. 2006. PMID: 17101632