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Cali JJ, Hsieh CL, Francke U, Russell DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266: 7779-7783, 1991.","DOI":"10.1016\/S0021-9258(20)89518-0"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Cali JJ, Russell DW. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J Biol Chem 266: 7774-7778, 1991.","DOI":"10.1016\/S0021-9258(20)89517-9"},{"key":"3","unstructured":"3. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 27: 42-50, 2004."},{"key":"4","unstructured":"4. Kuriyama M, Fujiyama J, Yoshidome H, et al. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neurol Sci 102: 225-232, 1991."},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. 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Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. J Lipid Res 38: 870-879, 1997.","DOI":"10.1016\/S0022-2275(20)37212-6"},{"key":"13","unstructured":"13. Suh S, Kim HK, Park HD, et al. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. Eur J Med Genet 55: 71-74, 2012."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Lee MH, Hazard S, Carpten JD, et al. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. J Lipid Res 42: 159-169, 2001.","DOI":"10.1016\/S0022-2275(20)31675-8"},{"key":"15","unstructured":"15. Nozue T. Genetic analysis of cerebrotendinous xanthomatosis patients and the effect of treatment with chenodeoxycholic acid. J Juzen Med Soc 111: 20-34, 2002."},{"key":"16","unstructured":"16. The Single Nucleotide Polymorphism Database [Internet]. National Center for Biotechnology information. Available from http:\/\/www.ncbi.nlm.nih.gov\/SNP\/"},{"key":"17","unstructured":"17. The UCSC Genome Browser [Internet]. University of California, Santa Cruz. Available from http:\/\/genome.ucsc.edu"},{"key":"18","unstructured":"18. Polymorphism Phenotyping v2 [Internet]. Division of Genetics, Brigham & Women's Hospital, Harvard Medical School. Available from http:\/\/genetics.bwh.harvard.edu\/pph2\/"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249, 2010.","DOI":"10.1038\/nmeth0410-248"},{"key":"20","unstructured":"20. Barkhof F, Verrips A, Wesseling P, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 217: 869-876, 2000."},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. De Stefano N, Dotti MT, Mortilla M, Federico A. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 124: 121-131, 2001.","DOI":"10.1093\/brain\/124.1.121"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311: 1649-1652, 1984.","DOI":"10.1056\/NEJM198412273112601"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. van Heijst AF, Verrips A, Wevers RA, Cruysberg JR, Renier WO, Tolboom JJ. Treatment and follow-up of children with cerebrotendinous xanthomatosis. Eur J Pediatr 157: 313-316, 1998.","DOI":"10.1007\/s004310050818"},{"key":"24","unstructured":"24. Mondelli M, Sicurelli F, Scarpini C, Dotti MT, Federico A. Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. J Neurol Sci 190: 29-33, 2001."},{"key":"25","unstructured":"25. Peynet J, Laurent A, De Liege P, et al. Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings. Neurology 41: 434-436, 1991."},{"key":"26","unstructured":"26. Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A. Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol 255: 839-842, 2008."},{"key":"27","unstructured":"27. Pilo-de-la-Fuente B, Jimenez-Escrig A, Lorenzo JR, et al. Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. 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