Barboni P - Search Results

1

Natural History of Conversion of Leber's Hereditary Optic Neuropathy: A Prospective Case Series.

Hwang TJ, Karanjia R, Moraes-Filho MN, Gale J, Tran JS, Chu ER, Salomao SR, Berezovsky A, Belfort R Jr, Moraes MN, Sadun F, DeNegri AM, La Morgia C, Barboni P, Ramos CDVF, Chicani CF, Quiros PA, Carelli V, Sadun AA. Hwang TJ, et al. Among authors: barboni p. Ophthalmology. 2017 Jun;124(6):843-850. doi: 10.1016/j.ophtha.2017.01.002. Epub 2017 Feb 10. Ophthalmology. 2017. PMID: 28196731

2

Mitochondrial DNA analysis in Leber's hereditary optic neuropathy.

Barboni P, Mantovani V, Montagna P, Bragliani M, Cortelli P, Lugaresi E, Puddu P, Caramazza R. Barboni P, et al. Ophthalmic Paediatr Genet. 1992 Dec;13(4):219-26. doi: 10.3109/13816819209105170. Ophthalmic Paediatr Genet. 1992. PMID: 1488222

3

Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.

Cortelli P, Montagna P, Avoni P, Sangiorgi S, Bresolin N, Moggio M, Zaniol P, Mantovani V, Barboni P, Barbiroli B, et al. Cortelli P, et al. Among authors: barboni p. Neurology. 1991 Aug;41(8):1211-5. doi: 10.1212/wnl.41.8.1211. Neurology. 1991. PMID: 1866007

4

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: barboni p. 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.

5

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

Puddu P, Barboni P, Mantovani V, Montagna P, Cerullo A, Bragliani M, Molinotti C, Caramazza R. Puddu P, et al. Among authors: barboni p. Br J Ophthalmol. 1993 Feb;77(2):84-8. doi: 10.1136/bjo.77.2.84. Br J Ophthalmol. 1993. PMID: 8435424 Free PMC article.

6

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: barboni p. Am J Hum Genet. 1996 Jul;59(1):248-52. Am J Hum Genet. 1996. PMID: 8659531 Free PMC article. No abstract available.

7

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: barboni p. 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

8

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: barboni p. J Neurol Sci. 1997 May 1;148(1):25-31. doi: 10.1016/s0022-510x(96)00311-5. J Neurol Sci. 1997. PMID: 9125387

9

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: barboni p. Am J Hum Genet. 1997 May;60(5):1107-21. Am J Hum Genet. 1997. PMID: 9150158 Free PMC article.

10

Pseudodoubling of the optic disc.

Barboni P, Deluigi M, De Bonis C, Monetti G, Savini G, Zanini M. Barboni P, et al. Arch Ophthalmol. 1998 Oct;116(10):1400-1. doi: 10.1001/archopht.116.10.1400. Arch Ophthalmol. 1998. PMID: 9790655 No abstract available.

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