Zeviani M - Search Results

1

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.

Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC. Graziewicz MA, et al. Among authors: zeviani m. Nat Struct Mol Biol. 2004 Aug;11(8):770-6. doi: 10.1038/nsmb805. Epub 2004 Jul 18. Nat Struct Mol Biol. 2004. PMID: 15258572

2

An autosomal locus predisposing to deletions of mitochondrial DNA.

Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L. Suomalainen A, et al. Among authors: zeviani m. Nat Genet. 1995 Feb;9(2):146-51. doi: 10.1038/ng0295-146. Nat Genet. 1995. PMID: 7719341

3

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I. Baruffini E, et al. Among authors: zeviani m. Hum Mol Genet. 2006 Oct 1;15(19):2846-55. doi: 10.1093/hmg/ddl219. Epub 2006 Aug 29. Hum Mol Genet. 2006. PMID: 16940310

4

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M. Lamantea E, et al. Among authors: zeviani m. Ann Neurol. 2002 Aug;52(2):211-9. doi: 10.1002/ana.10278. Ann Neurol. 2002. PMID: 12210792

5

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: zeviani m. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

6

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

7

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Agostino A, et al. Among authors: zeviani m. Neurology. 2003 Apr 22;60(8):1354-6. doi: 10.1212/01.wnl.0000056088.09408.3c. Neurology. 2003. PMID: 12707443

8

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M. Invernizzi F, et al. Among authors: zeviani m. Neuromuscul Disord. 2008 Jun;18(6):460-4. doi: 10.1016/j.nmd.2008.04.005. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18502641

9

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J. Ashley N, et al. Among authors: zeviani m. Hum Mol Genet. 2007 Jun 15;16(12):1400-11. doi: 10.1093/hmg/ddm090. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17483096

10

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.

Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Fontanesi F, et al. Among authors: zeviani m. Hum Mol Genet. 2004 May 1;13(9):923-34. doi: 10.1093/hmg/ddh108. Epub 2004 Mar 11. Hum Mol Genet. 2004. PMID: 15016764

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