Da Pozzo P - Search Results

1

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

Cardaioli E, Malfatti E, Da Pozzo P, Gallus GN, Carluccio MA, Rufa A, Volpi N, Dotti MT, Federico A. Cardaioli E, et al. Among authors: da pozzo p. J Neurol Sci. 2011 Apr 15;303(1-2):142-5. doi: 10.1016/j.jns.2010.12.020. Epub 2011 Jan 22. J Neurol Sci. 2011. PMID: 21257182

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: da pozzo p. 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

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: da pozzo p. 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

4

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: da pozzo p. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276

5

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.

Da Pozzo P, Cardaioli E, Malfatti E, Gallus GN, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M, Federico A. Da Pozzo P, et al. Eur J Hum Genet. 2009 Aug;17(8):1092-6. doi: 10.1038/ejhg.2009.12. Epub 2009 Feb 18. Eur J Hum Genet. 2009. PMID: 19223931 Free PMC article.

6

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C, Macucci M, Malandrini A, Margollicci M, Rubegni A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: da pozzo p. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099

7

A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features.

Malfatti E, Cardaioli E, Battisti C, Da Pozzo P, Malandrini A, Rufa A, Rocchi R, Federico A. Malfatti E, et al. Among authors: da pozzo p. J Neurol Sci. 2010 Oct 15;297(1-2):105-8. doi: 10.1016/j.jns.2010.06.009. Epub 2010 Aug 13. J Neurol Sci. 2010. PMID: 20708751

8

Mitochondria, oxidative stress and neurodegeneration.

Federico A, Cardaioli E, Da Pozzo P, Formichi P, Gallus GN, Radi E. Federico A, et al. Among authors: da pozzo p. J Neurol Sci. 2012 Nov 15;322(1-2):254-62. doi: 10.1016/j.jns.2012.05.030. Epub 2012 Jun 4. J Neurol Sci. 2012. PMID: 22669122 Review.

9

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation.

Cardaioli E, Malfatti E, Battisti C, Da Pozzo P, Rubegni A, Gallus GN, Malandrini A, Federico A. Cardaioli E, et al. Among authors: da pozzo p. J Neurol Sci. 2012 Oct 15;321(1-2):92-5. doi: 10.1016/j.jns.2012.07.027. Epub 2012 Aug 24. J Neurol Sci. 2012. PMID: 22925535

10

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Rubegni A, Cardaioli E, Chini E, Da Pozzo P, Battisti C, Malandrini A, Federico A. Rubegni A, et al. Among authors: da pozzo p. J Neurol Sci. 2014 Mar 15;338(1-2):232-4. doi: 10.1016/j.jns.2014.01.010. Epub 2014 Jan 14. J Neurol Sci. 2014. PMID: 24468540

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