Rufa A - Search Results

1

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

Battisti C, Loudianos G, Rufa A, Dotti MT, Sangiorgi S, Dessì V, Lovicu M, Pirastu M, Federico A. Battisti C, et al. Among authors: rufa a. Am J Med Genet. 1999 Jul 16;85(2):175-8. doi: 10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10406672

2

A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.

Plewnia K, Dotti MT, Malandrini A, Manneschi L, Battisti C, De Stefano N, Rufa A, Motolese E, Federico A. Plewnia K, et al. Among authors: rufa a. J Submicrosc Cytol Pathol. 1997 Jul;29(3):335-8. J Submicrosc Cytol Pathol. 1997. PMID: 9267042

3

A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778.

Dotti MT, Plewnia K, Cardaioli E, Manneschi L, Rufa A, Alemà G, Federico A. Dotti MT, et al. Among authors: rufa a. J Neurol. 1998 May;245(5):302-3. doi: 10.1007/s004150050223. J Neurol. 1998. PMID: 9617713 No abstract available.

4

Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.

Federico A, Dotti MT, Cardaioli E, Grieco G, Malandrini A, Manneschi L, Plewnia K, Rufa A, Renieri A, Bruttini M, Perticoni GF. Federico A, et al. Among authors: rufa a. J Submicrosc Cytol Pathol. 1998 Oct;30(4):521-6. J Submicrosc Cytol Pathol. 1998. PMID: 9851061

5

MR brain imaging of fucosidosis type I.

Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A. Galluzzi P, et al. Among authors: rufa a. AJNR Am J Neuroradiol. 2001 Apr;22(4):777-80. AJNR Am J Neuroradiol. 2001. PMID: 11290499 Free PMC article.

6

Genetic leukoencephalopathies with unknown metabolic pathogenesis.

Federico A, Rufa A, Battisti C, Bianchi S, Cardaioli E, Da Pozzo P, De Stefano N, Formichi P, Sicurelli F, Dotti MT. Federico A, et al. Among authors: rufa a. Neurol Sci. 2001 Nov;22 Suppl 2:S108-12. doi: 10.1007/s100720100046. Neurol Sci. 2001. PMID: 11794472 Review.

7

Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.

Dotti MT, Rufa A, Federico A. Dotti MT, et al. Among authors: rufa a. J Inherit Metab Dis. 2001 Dec;24(7):696-706. doi: 10.1023/a:1012981019336. J Inherit Metab Dis. 2001. PMID: 11804206

8

Retinochoroidal atrophy in two adult patients with Angelman syndrome.

Rufa A, Dotti MT, Orrico A, Battisti C, Carletto F, Federico A. Rufa A, et al. Am J Med Genet A. 2003 Oct 1;122A(2):155-8. doi: 10.1002/ajmg.a.20217. Am J Med Genet A. 2003. PMID: 12955768

9

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Battisti C, Dotti MT, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A. Battisti C, et al. Among authors: rufa a. Neurol Sci. 2004 Apr;25(1):18-20. doi: 10.1007/s10072-004-0220-z. Neurol Sci. 2004. PMID: 15060811

10

Video-based eye tracking: our experience with Advanced Stimuli Design for Eye Tracking software.

Rufa A, Mariottini GL, Prattichizzo D, Alessandrini D, Vicino A, Federico A. Rufa A, et al. Ann N Y Acad Sci. 2005 Apr;1039:575-9. doi: 10.1196/annals.1325.071. Ann N Y Acad Sci. 2005. PMID: 15827026

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