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894 results
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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: federico a. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
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: federico a. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518
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: federico a. J Lipid Res. 1996 Oct;37(10):2193-201. J Lipid Res. 1996. PMID: 8906596
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: federico a. J Neurol. 2011 May;258(5):783-90. doi: 10.1007/s00415-010-5829-4. Epub 2010 Nov 21. J Neurol. 2011. PMID: 21104094
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: federico a. J Lipid Res. 1996 Mar;37(3):662-72. J Lipid Res. 1996. PMID: 8728327
Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis.
Dotti MT, Manneschi L, Federico A. Dotti MT, et al. Among authors: federico a. J Neurol Sci. 1995 Apr;129(2):106-8. doi: 10.1016/0022-510x(94)00256-n. J Neurol Sci. 1995. PMID: 7608723
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid.
Mondelli M, Rossi A, Scarpini C, Dotti MT, Federico A. Mondelli M, et al. Among authors: federico a. Arch Neurol. 1992 May;49(5):469-75. doi: 10.1001/archneur.1992.00530290051011. Arch Neurol. 1992. PMID: 1316120
Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).
Fiorelli M, Di Piero V, Bastianello S, Bozzao L, Federico A. Fiorelli M, et al. Among authors: federico a. J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):76-8. doi: 10.1136/jnnp.53.1.76. J Neurol Neurosurg Psychiatry. 1990. PMID: 2303834 Free PMC article.
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.
Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A. Orrico A, et al. Among authors: federico a. Am J Med Genet. 1998 Jul 24;78(4):341-4. Am J Med Genet. 1998. PMID: 9714436
Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Dotti MT, Federico A, Garuti R, Calandra S. Dotti MT, et al. Among authors: federico a. Mov Disord. 2000 Sep;15(5):1017-9. doi: 10.1002/1531-8257(200009)15:5<1017::aid-mds1043>3.0.co;2-f. Mov Disord. 2000. PMID: 11009219 No abstract available.
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