Federico A - Search Results

1

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. J Submicrosc Cytol Pathol. 1998 Oct;30(4):521-6. J Submicrosc Cytol Pathol. 1998. PMID: 9851061

2

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. Biochem Biophys Res Commun. 2005 Feb 18;327(3):675-8. doi: 10.1016/j.bbrc.2004.11.170. Biochem Biophys Res Commun. 2005. PMID: 15649400

3

Skin and conjunctive biopsies as a useful diagnostic tool in tomaculous neuropathy.

Federico A, Malandrini A. Federico A, et al. J Submicrosc Cytol Pathol. 1996 Apr;28(2):171-4. J Submicrosc Cytol Pathol. 1996. PMID: 8964041

4

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: federico a. J Submicrosc Cytol Pathol. 1997 Jul;29(3):335-8. J Submicrosc Cytol Pathol. 1997. PMID: 9267042

5

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

Cardaioli E, Da Pozzo P, Malfatti E, Gallus GN, Rubegni A, Malandrini A, Gaudiano C, Guidi L, Serni G, Berti G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. J Neurol Sci. 2008 Sep 15;272(1-2):106-9. doi: 10.1016/j.jns.2008.05.005. Epub 2008 Jul 7. J Neurol Sci. 2008. PMID: 18603265

6

Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.

Federico A, Dotti MT. Federico A, et al. J Child Neurol. 2003 Sep;18(9):633-8. doi: 10.1177/08830738030180091001. J Child Neurol. 2003. PMID: 14572142 Review.

7

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

Dotti MT, De Stefano N, Bianchi S, Malandrini A, Battisti C, Cardaioli E, Federico A. Dotti MT, et al. Among authors: federico a. Arch Neurol. 2004 Jun;61(6):942-5. doi: 10.1001/archneur.61.6.942. Arch Neurol. 2004. PMID: 15210536

8

Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic environmental exposure?

Rufa A, Dotti MT, Cardaioli E, Da Pozzo P, Federico A. Rufa A, et al. Among authors: federico a. Eur Neurol. 2005;53(1):32-4. doi: 10.1159/000083927. Epub 2005 Feb 10. Eur Neurol. 2005. PMID: 15711068

9

Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.

Cardaioli E, Da Pozzo P, Cerase A, Sicurelli F, Malandrini A, De Stefano N, Stromillo ML, Battisti C, Dotti MT, Federico A. Cardaioli E, et al. Among authors: federico a. Neuromuscul Disord. 2006 Jan;16(1):26-31. doi: 10.1016/j.nmd.2005.11.001. Epub 2005 Dec 20. Neuromuscul Disord. 2006. PMID: 16368237

10

A new missense mutation in caveolin-3 gene causes rippling muscle disease.

Dotti MT, Malandrini A, Gambelli S, Salvadori C, De Stefano N, Federico A. Dotti MT, et al. Among authors: federico a. J Neurol Sci. 2006 Apr 15;243(1-2):61-4. doi: 10.1016/j.jns.2005.11.032. Epub 2006 Feb 3. J Neurol Sci. 2006. PMID: 16458928

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