Cardaioli E - Search Results

1

Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.

Grosso S, Carluccio MA, Cardaioli E, Cerase A, Malandrini A, Romano C, Federico A, Dotti MT. Grosso S, et al. Among authors: cardaioli e. Brain Dev. 2017 Mar;39(3):261-265. doi: 10.1016/j.braindev.2016.09.013. Epub 2016 Oct 11. Brain Dev. 2017. PMID: 27742419

2

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: cardaioli e. Eur Neurol. 2005;53(1):32-4. doi: 10.1159/000083927. Epub 2005 Feb 10. Eur Neurol. 2005. PMID: 15711068

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. 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 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.

5

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

6

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

7

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: cardaioli e. 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

8

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Da Pozzo P, et al. Among authors: cardaioli e. Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27. Neurol Sci. 2017. PMID: 28130605

9

Replay to: Phenotypic spectrum of POLG1 mutations.

Cardaioli E, Da Pozzo P, Federico A. Cardaioli E, et al. Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2. Neurol Sci. 2018. PMID: 29396812 No abstract available.

10

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

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