Zeviani M - Search Results

1

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.

Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H, Zeviani M. Limongelli A, et al. Among authors: zeviani m. J Med Genet. 2004 May;41(5):342-9. doi: 10.1136/jmg.2003.016048. J Med Genet. 2004. PMID: 15121771 Free PMC article.

2

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: zeviani m. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

3

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.

Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V, Zeviani M. Agostino A, et al. Among authors: zeviani m. Hum Mol Genet. 2003 Feb 15;12(4):399-413. doi: 10.1093/hmg/ddg038. Hum Mol Genet. 2003. PMID: 12566387

4

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

Malfatti E, Bugiani M, Invernizzi F, de Souza CF, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MT, Giugliani R, Uziel G, Zeviani M. Malfatti E, et al. Among authors: zeviani m. Brain. 2007 Jul;130(Pt 7):1894-904. doi: 10.1093/brain/awm114. Epub 2007 May 29. Brain. 2007. PMID: 17535832

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. Among authors: zeviani m. 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

The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.

Valente L, Shigi N, Suzuki T, Zeviani M. Valente L, et al. Among authors: zeviani m. Biochim Biophys Acta. 2009 Aug;1792(8):791-5. doi: 10.1016/j.bbadis.2009.06.002. Epub 2009 Jun 12. Biochim Biophys Acta. 2009. PMID: 19524667 Free article.

7

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Ghezzi D, et al. Among authors: zeviani m. Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362274 Free PMC article.

8

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M. Ghezzi D, et al. Among authors: zeviani m. Am J Hum Genet. 2012 Jun 8;90(6):1079-87. doi: 10.1016/j.ajhg.2012.04.011. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608499 Free PMC article.

9

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. Lamperti C, et al. Among authors: zeviani m. Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23010432 Free PMC article.

10

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. Invernizzi F, et al. Among authors: zeviani m. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23. Hum Mutat. 2013. PMID: 24014394 Free PMC article.

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