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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.

Anne Couturier-Tarrade , Coralie Fassier , Sabrina Courageot , Delphine Charvin , Jérémie Vitte , et al.
Human Molecular Genetics, 2006, 15 (24), pp.3544-58. ⟨10.1093/hmg/ddl431⟩
Journal articles inserm-00380098v1