Carelli V - Search Results

1

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: carelli v. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.

2

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.

3

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

4

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

5

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.

6

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

7

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

8

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

Pezzi PP, De Negri AM, Sadun F, Carelli V, Leuzzi V. Pezzi PP, et al. Among authors: carelli v. Pediatr Neurol. 1998 Oct;19(4):308-12. doi: 10.1016/s0887-8994(98)00060-5. Pediatr Neurol. 1998. PMID: 9831004

9

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.

Carelli V, Barboni P, Zacchini A, Mancini R, Monari L, Cevoli S, Liguori R, Sensi M, Lugaresi E, Montagna P. Carelli V, et al. J Neurol Sci. 1998 Oct 8;160(2):183-8. doi: 10.1016/s0022-510x(98)00239-1. J Neurol Sci. 1998. PMID: 9849804

10

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.

Carelli V, Ghelli A, Bucchi L, Montagna P, De Negri A, Leuzzi V, Carducci C, Lenaz G, Lugaresi E, Degli Esposti M. Carelli V, et al. Ann Neurol. 1999 Mar;45(3):320-8. Ann Neurol. 1999. PMID: 10072046

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