Zeviani M - Search Results

1

Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son.

Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F, Zeviani M. Puoti G, et al. Among authors: zeviani m. J Med Genet. 2003 Nov;40(11):858-63. doi: 10.1136/jmg.40.11.858. J Med Genet. 2003. PMID: 14627683 Free PMC article. No abstract available.

2

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.

3

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.

4

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.

Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S. Wang L, et al. Among authors: zeviani m. Mol Genet Metab. 2005 Jan;84(1):75-82. doi: 10.1016/j.ymgme.2004.09.005. Mol Genet Metab. 2005. PMID: 15639197

5

The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.

Yu-Wai-Man P, Morris CM, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. Yu-Wai-Man P, et al. Among authors: zeviani m. J Med Genet. 2003 Apr;40(4):e41. doi: 10.1136/jmg.40.4.e41. J Med Genet. 2003. PMID: 12676914 Free PMC article. No abstract available.

6

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

7

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A. Carelli V, et al. Among authors: zeviani m. Am J Hum Genet. 2006 Apr;78(4):564-74. doi: 10.1086/501236. Epub 2006 Jan 27. Am J Hum Genet. 2006. PMID: 16532388 Free PMC article.

8

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S. Zeviani M, et al. Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390. Eur J Hum Genet. 1993. PMID: 8069654

9

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27. J Inherit Metab Dis. 2009. PMID: 19125351

10

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: zeviani m. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994

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