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Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Garuti R, Croce MA, Tiozzo R, Dotti MT, Federico A, Bertolini S, Calandra S. Garuti R, et al. Among authors: dotti mt. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
Urinary excretion of mevalonic acid as an indicator of cholesterol synthesis.
Lindenthal B, Simatupang A, Dotti MT, Federico A, L├╝tjohann D, von Bergmann K. Lindenthal B, et al. Among authors: dotti mt. J Lipid Res. 1996 Oct;37(10):2193-201. J Lipid Res. 1996. PMID: 8906596
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
Garuti R, Lelli N, Barozzini M, Dotti MT, Federico A, Bertolini S, Calandra S. Garuti R, et al. Among authors: dotti mt. J Lipid Res. 1996 Mar;37(3):662-72. J Lipid Res. 1996. PMID: 8728327
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti MT, Federico A, Ottomano AM, Croce A, Bertolini S, Calandra S. Garuti R, et al. Among authors: dotti mt. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.
Mignarri A, Rossi S, Ballerini M, Gallus GN, Del Puppo M, Galluzzi P, Federico A, Dotti MT. Mignarri A, et al. Among authors: dotti mt. J Neurol. 2011 May;258(5):783-90. doi: 10.1007/s00415-010-5829-4. Epub 2010 Nov 21. J Neurol. 2011. PMID: 21104094
Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.
Dotti MT, Manneschi L, Federico A. Dotti MT, et al. J Neurol Sci. 1995 Apr;129(2):106-8. doi: 10.1016/0022-510x(94)00256-n. J Neurol Sci. 1995. PMID: 7608723
Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing.
Dotti MT, Salen G, Federico A. Dotti MT, et al. Dev Neurosci. 1991;13(4-5):371-6. doi: 10.1159/000112187. Dev Neurosci. 1991. PMID: 1817044 Review.
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study.
Mondelli M, Sicurelli F, Scarpini C, Dotti MT, Federico A. Mondelli M, et al. Among authors: dotti mt. J Neurol Sci. 2001 Sep 15;190(1-2):29-33. doi: 10.1016/s0022-510x(01)00563-9. J Neurol Sci. 2001. PMID: 11574103 Clinical Trial.
Cerebrotendinous xanthomatosis.
Federico A, Dotti MT. Federico A, et al. Among authors: dotti mt. Neurology. 2001 Nov 13;57(9):1743. doi: 10.1212/wnl.57.9.1743. Neurology. 2001. PMID: 11706139 No abstract available.
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis.
Brienza M, Fiermonte G, Cambieri C, Mignarri A, Dotti MT, Fiorelli M. Brienza M, et al. Among authors: dotti mt. J Inherit Metab Dis. 2015 Sep;38(5):981-2. doi: 10.1007/s10545-014-9805-5. Epub 2015 Jan 8. J Inherit Metab Dis. 2015. PMID: 25567502 No abstract available.
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