De Negri A - Search Results

1

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Among authors: de negri a. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.

2

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Carducci C, Leuzzi V, Scuderi M, De Negri AM, Gabrieli CB, Antonozzi I, Pontecorvi A. Carducci C, et al. Among authors: de negri am. Hum Genet. 1991 Oct;87(6):725-7. doi: 10.1007/BF00201733. Hum Genet. 1991. PMID: 1937476

3

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

4

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: de negri am. Pediatr Neurol. 1998 Oct;19(4):308-12. doi: 10.1016/s0887-8994(98)00060-5. Pediatr Neurol. 1998. PMID: 9831004

5

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. Among authors: de negri a. Ann Neurol. 1999 Mar;45(3):320-8. Ann Neurol. 1999. PMID: 10072046

6

Bilateral trochlear nerve palsy associated with cryptococcal meningitis in human immunodeficiency virus infection.

Sadun F, De Negri AM, Santopadre P, Pivetti Pezzi P. Sadun F, et al. Among authors: de negri am. J Neuroophthalmol. 1999 Jun;19(2):118-9. J Neuroophthalmol. 1999. PMID: 10380131

7

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros P, Sadun F, DeNegri AM, Andrade R, Schein S, Belfort R. Sadun AA, et al. Trans Am Ophthalmol Soc. 2002;100:169-78; discussion 178-9. Trans Am Ophthalmol Soc. 2002. PMID: 12545691 Free PMC article.

8

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, DeNegri AM, Andrade R, Moraes M, Passos A, Kjaer P, Pereira J, Valentino ML, Schein S, Belfort R. Sadun AA, et al. Am J Ophthalmol. 2003 Aug;136(2):231-8. doi: 10.1016/s0002-9394(03)00099-0. Am J Ophthalmol. 2003. PMID: 12888043

9

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M, Passos A, Belfort R, da Rosa AB, Quiros P, Sadun AA. Sadun F, et al. Among authors: de negri am. Am J Ophthalmol. 2004 Feb;137(2):271-7. doi: 10.1016/j.ajo.2003.08.010. Am J Ophthalmol. 2004. PMID: 14962416

10

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy.

Barboni P, Savini G, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F, Bianchi S, Longanesi L, Zanini M, de Vivo A, Carelli V. Barboni P, et al. Among authors: de vivo a, de negri am. Ophthalmology. 2005 Jan;112(1):120-6. doi: 10.1016/j.ophtha.2004.06.034. Ophthalmology. 2005. PMID: 15629831

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