Zeviani M - Search Results

1

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.

Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R. Di Nottia M, et al. Among authors: zeviani m. Biochim Biophys Acta Mol Basis Dis. 2017 Apr;1863(4):961-967. doi: 10.1016/j.bbadis.2017.01.022. Epub 2017 Jan 26. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28132884 Free PMC article.

2

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S, Tonali P. Servidei S, et al. Among authors: zeviani m. Neurology. 1991 Jul;41(7):1053-9. doi: 10.1212/wnl.41.7.1053. Neurology. 1991. PMID: 2067633

3

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. Zeviani M, et al. Nature. 1989 May 25;339(6222):309-11. doi: 10.1038/339309a0. Nature. 1989. PMID: 2725645

4

Disorders of nuclear-mitochondrial intergenomic signalling.

Zeviani M, Petruzzella V, Carrozzo R. Zeviani M, et al. J Bioenerg Biomembr. 1997 Apr;29(2):121-30. doi: 10.1023/a:1022633912917. J Bioenerg Biomembr. 1997. PMID: 9239538 Review.

5

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L. Dionisi-Vici C, et al. Among authors: zeviani m. J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996. J Inherit Metab Dis. 1998. PMID: 9501263

6

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: zeviani m. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

7

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Am J Hum Genet. 1998 Dec;63(6):1609-21. doi: 10.1086/302150. Am J Hum Genet. 1998. PMID: 9837813 Free PMC article.

8

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. Petruzzella V, et al. Among authors: zeviani m. Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580. Genomics. 1998. PMID: 9878253

9

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910

10

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

Fernandez-Vizarra E, Berardinelli A, Valente L, Tiranti V, Zeviani M. Fernandez-Vizarra E, et al. Among authors: zeviani m. J Med Genet. 2007 Mar;44(3):173-80. doi: 10.1136/jmg.2006.045252. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056637 Free PMC article.

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