Barboni P - Search Results

1

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: barboni p. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.

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

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

5

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

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. Among authors: barboni p. 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

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy.

Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, Pallotti F, Montagna P, Barbiroli B. Lodi R, et al. Among authors: barboni p. J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):805-7. doi: 10.1136/jnnp.72.6.805. J Neurol Neurosurg Psychiatry. 2002. PMID: 12023431 Free PMC article.

8

First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve.

Sadun AA, Carelli V, Bose S, Ross-Cisneros FN, Barboni P, Ahrens ET. Sadun AA, et al. Among authors: barboni p. Ophthalmology. 2002 Jun;109(6):1085-91. doi: 10.1016/s0161-6420(02)01027-8. Ophthalmology. 2002. PMID: 12045048

9

Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.

Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V. Valentino ML, et al. Among authors: barboni p. Ann Neurol. 2002 Jun;51(6):774-8. doi: 10.1002/ana.10193. Ann Neurol. 2002. PMID: 12112086

10

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, Carelli V. Valentino ML, et al. Among authors: barboni p. Ann Neurol. 2004 Nov;56(5):631-41. doi: 10.1002/ana.20236. Ann Neurol. 2004. PMID: 15505787

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