Cardaioli E - Search Results

1

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Cardaioli E, Mignarri A, Cantisani TA, Malandrini A, Nesti C, Rubegni A, Funel N, Federico A, Santorelli FM, Dotti MT. Cardaioli E, et al. Biochem Biophys Res Commun. 2018 Jun 2;500(2):158-162. doi: 10.1016/j.bbrc.2018.04.009. Epub 2018 Apr 13. Biochem Biophys Res Commun. 2018. PMID: 29625105

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. 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

Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations.

Da Pozzo P, Cardaioli E, Radi E, Federico A. Da Pozzo P, et al. Among authors: cardaioli e. Biochem Biophys Res Commun. 2004 Nov 5;324(1):360-4. doi: 10.1016/j.bbrc.2004.09.058. Biochem Biophys Res Commun. 2004. PMID: 15465027

4

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. 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

5

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM. Petruzzella V, et al. Among authors: cardaioli e. Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. doi: 10.1016/j.bbrc.2007.01.140. Epub 2007 Feb 2. Biochem Biophys Res Commun. 2007. PMID: 17292333

6

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. 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

7

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. Among authors: cardaioli e. 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.

8

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: cardaioli e. 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

9

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. 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

10

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. 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

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