White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
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Tallaksen, 2001, Recent advances in hereditary spastic paraplegia, Curr Opin Neurol, 14, 457, 10.1097/00019052-200108000-00005
Depienne, 2007, Hereditary spastic paraplegias: an update, Curr Opin Neurol, 20, 674, 10.1097/WCO.0b013e3282f190ba
Tsaousidou, 2008, Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration, Am J Hum Genet, 82, 510, 10.1016/j.ajhg.2007.10.001
Klebe, 2007, Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description, Am J Med Genet B Neuropsychiatr Genet, 144, 854, 10.1002/ajmg.b.30518
Beetz, 2006, High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia, Neurology, 67, 1926, 10.1212/01.wnl.0000244413.49258.f5
Shafer, 1998, Stability and structure of model DNA triplexes and quadruplexes and their interactions with small ligands, Prog Nucleic Acid Res Mol Biol, 59, 55, 10.1016/S0079-6603(08)61029-6
Javitt, 1994, Bile acid synthesis from cholesterol: regulatory and auxiliary pathways, FASEB J, 8, 1308, 10.1096/fasebj.8.15.8001744
Federico, 2003, Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy, J Child Neurol, 18, 633, 10.1177/08830738030180091001
Barkhof, 2000, Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings, Radiology, 217, 869, 10.1148/radiology.217.3.r00dc03869
Stevanin, 2007, Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum, Nat Genet, 39, 366, 10.1038/ng1980