Zeviani M - Search Results

1

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Invernizzi F, Ardissone A, Lamantea E, Garavaglia B, Zeviani M, Farina L, Ghezzi D, Moroni I. Invernizzi F, et al. Among authors: zeviani m. Front Genet. 2014 Nov 20;5:412. doi: 10.3389/fgene.2014.00412. eCollection 2014. Front Genet. 2014. PMID: 25477904 Free PMC article.

2

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: zeviani m. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28. Am J Hum Genet. 2014. PMID: 25175347 Free PMC article.

3

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A, Ardissone A, Reyes A, Robinson AJ, Moroni I, Ghezzi D, Fernandez-Vizarra E, Zeviani M. Martinez Lyons A, et al. Among authors: zeviani m. J Med Genet. 2016 Dec;53(12):846-849. doi: 10.1136/jmedgenet-2016-104194. Epub 2016 Sep 28. J Med Genet. 2016. PMID: 27683825 Free PMC article.

4

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

5

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Am J Hum Genet. 2004 Feb;74(2):239-52. doi: 10.1086/381653. Epub 2004 Jan 19. Am J Hum Genet. 2004. PMID: 14732903 Free PMC article.

6

Effects of riboflavin in children with complex II deficiency.

Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, Zeviani M, Uziel G. Bugiani M, et al. Among authors: zeviani m. Brain Dev. 2006 Oct;28(9):576-81. doi: 10.1016/j.braindev.2006.04.001. Epub 2006 Jun 5. Brain Dev. 2006. PMID: 16737791 Clinical Trial.

7

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I, Zeviani M. Ghezzi D, et al. Among authors: zeviani m. Nat Genet. 2009 Jun;41(6):654-6. doi: 10.1038/ng.378. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465911

8

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.

9

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.

Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C, Zeviani M. Ghezzi D, et al. Among authors: zeviani m. Nat Genet. 2011 Mar;43(3):259-63. doi: 10.1038/ng.761. Epub 2011 Jan 30. Nat Genet. 2011. PMID: 21278747

10

Infantile mitochondrial encephalopathy.

Uziel G, Ghezzi D, Zeviani M. Uziel G, et al. Among authors: zeviani m. Semin Fetal Neonatal Med. 2011 Aug;16(4):205-15. doi: 10.1016/j.siny.2011.04.003. Epub 2011 May 26. Semin Fetal Neonatal Med. 2011. PMID: 21620787 Review.

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