Carelli V - Search Results

1

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V. Caporali L, et al. Among authors: carelli v. PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29444077 Free PMC article.

2

Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy.

Montagna P, Plazzi G, Cortelli P, Carelli V, Lugaresi E, Barboni P, Fiocchi M. Montagna P, et al. Among authors: carelli v. J Neurol Neurosurg Psychiatry. 1995 May;58(5):640-1. doi: 10.1136/jnnp.58.5.640. J Neurol Neurosurg Psychiatry. 1995. PMID: 7745422 Free PMC article. No abstract available.

3

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R, Angelini C, Lugaresi E. Vergani L, et al. Among authors: carelli v. Biochem Biophys Res Commun. 1995 May 25;210(3):880-8. doi: 10.1006/bbrc.1995.1740. Biochem Biophys Res Commun. 1995. PMID: 7763260

4

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

Degli Esposti M, Carelli V, Ghelli A, Ratta M, Crimi M, Sangiorgi S, Montagna P, Lenaz G, Lugaresi E, Cortelli P. Degli Esposti M, et al. Among authors: carelli v. FEBS Lett. 1994 Oct 3;352(3):375-9. doi: 10.1016/0014-5793(94)00971-6. FEBS Lett. 1994. PMID: 7926004 Free article.

5

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy.

Torroni A, Carelli V, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC, Scozzari R. Torroni A, et al. Among authors: carelli v. Am J Hum Genet. 1996 Jul;59(1):248-52. Am J Hum Genet. 1996. PMID: 8659531 Free PMC article. No abstract available.

6

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.

Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C, Hoffman EP. Pegoraro E, et al. Among authors: carelli v. Am J Med Genet. 1996 Feb 2;61(4):356-62. doi: 10.1002/(SICI)1096-8628(19960202)61:4<356::AID-AJMG10>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8834048

7

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study.

Cortelli P, Montagna P, Pierangeli G, Lodi R, Barboni P, Liguori R, Carelli V, Iotti S, Zaniol P, Lugaresi E, Barbiroli B. Cortelli P, et al. Among authors: carelli v. J Neurol Sci. 1997 May 1;148(1):25-31. doi: 10.1016/s0022-510x(96)00311-5. J Neurol Sci. 1997. PMID: 9125387

8

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R. Torroni A, et al. Among authors: carelli v. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.

9

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M. Carelli V, et al. Neurology. 1997 Jun;48(6):1623-32. doi: 10.1212/wnl.48.6.1623. Neurology. 1997. PMID: 9191778

10

Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON).

Ghelli A, Degli Esposti M, Carelli V, Lenaz G. Ghelli A, et al. Among authors: carelli v. Mol Aspects Med. 1997;18 Suppl:S263-7. doi: 10.1016/s0098-2997(97)00028-9. Mol Aspects Med. 1997. PMID: 9266534

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