Zeviani M - Search Results

1

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R, Zeviani M. Lamperti C, et al. Among authors: zeviani m. Neuromuscul Disord. 2012 Nov;22(11):990-4. doi: 10.1016/j.nmd.2012.06.003. Epub 2012 Jul 23. Neuromuscul Disord. 2012. PMID: 22832341

2

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V, Zeviani M. Lamantea E, et al. Among authors: zeviani m. Neuromuscul Disord. 2002 Jan;12(1):49-52. doi: 10.1016/s0960-8966(01)00244-9. Neuromuscul Disord. 2002. PMID: 11731284

3

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.

Fetoni V, Briem E, Carrara F, Mora M, Zeviani M. Fetoni V, et al. Among authors: zeviani m. Neuromuscul Disord. 2004 Nov;14(11):723-6. doi: 10.1016/j.nmd.2004.07.002. Neuromuscul Disord. 2004. PMID: 15482956

4

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Spinazzola A, Carrara F, Mora M, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. Neuromuscul Disord. 2004 Dec;14(12):815-7. doi: 10.1016/j.nmd.2004.09.002. Neuromuscul Disord. 2004. PMID: 15564038

5

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. Massa V, et al. Among authors: zeviani m. Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22. Am J Hum Genet. 2008. PMID: 18499082 Free PMC article.

6

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.

Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L, Zeviani M. Arzuffi P, et al. Among authors: zeviani m. Neuromuscul Disord. 2012 Jan;22(1):50-5. doi: 10.1016/j.nmd.2011.07.009. Epub 2012 Jan 9. Neuromuscul Disord. 2012. PMID: 22227277 Free PMC article.

7

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.

8

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. Reyes A, et al. Among authors: zeviani m. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18. Am J Hum Genet. 2015. PMID: 26094573 Free PMC article.

9

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Neuromuscul Disord. 1999 Mar;9(2):66-71. doi: 10.1016/s0960-8966(98)00103-5. Neuromuscul Disord. 1999. PMID: 10220860

10

Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.

Uziel G, Carrara F, Granata T, Lamantea E, Mora M, Zeviani M. Uziel G, et al. Among authors: zeviani m. Neuromuscul Disord. 2000 Aug;10(6):415-8. doi: 10.1016/s0960-8966(99)00115-7. Neuromuscul Disord. 2000. PMID: 10899447

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