Carelli V - Search Results

1

Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.

Barboni P, La Morgia C, Cascavilla ML, Hong EH, Battista M, Majander A, Caporali L, Starace V, Amore G, Renzo AD, Carbonelli M, Nucci P, Jurkute N, Chen BS, Panebianco R, De Negri AM, Sadun F, Parisi V, Bandello F, Sadun AA, Carelli V, Yu-Wai-Man P. Barboni P, et al. Among authors: carelli v. Am J Ophthalmol. 2023 May;249:99-107. doi: 10.1016/j.ajo.2022.12.014. Epub 2022 Dec 18. Am J Ophthalmol. 2023. PMID: 36543315

2

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

3

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

4

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.

5

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

6

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

7

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

8

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

Sadun AA, Win PH, Ross-Cisneros FN, Walker SO, Carelli V. Sadun AA, et al. Among authors: carelli v. Trans Am Ophthalmol Soc. 2000;98:223-32; discussion 232-5. Trans Am Ophthalmol Soc. 2000. PMID: 11190025 Free PMC article.

9

Optic neuropathy in Lhon and Leigh syndrome.

Carelli V, Sadun AA. Carelli V, et al. Ophthalmology. 2001 Jul;108(7):1172-3. doi: 10.1016/s0161-6420(01)00618-2. Ophthalmology. 2001. PMID: 11425664 No abstract available.

10

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies.

Carelli V, Ross-Cisneros FN, Sadun AA. Carelli V, et al. Neurochem Int. 2002 May;40(6):573-84. doi: 10.1016/s0197-0186(01)00129-2. Neurochem Int. 2002. PMID: 11850115 Review.

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