De Negri AM - Search Results

1

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.

Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Among authors: de negri am. Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24. Am J Ophthalmol. 2024. PMID: 38278202 Free article.

2

Screening of mtDNA mutations in Italian LHON pedigrees.

Carducci C, De Negri AM, Leuzzi V, Terregino C, Torella M, Pivetti Pezzi P, Antonozzi I. Carducci C, et al. Among authors: de negri am. J Inherit Metab Dis. 1996;19(2):127-9. doi: 10.1007/BF01799410. J Inherit Metab Dis. 1996. PMID: 8739946 No abstract available.

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. 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. Ann Neurol. 1999 Mar;45(3):320-8. Ann Neurol. 1999. PMID: 10072046

6

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

7

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

8

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

9

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

Savini G, Barboni P, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F, Bianchi S, Longanesi L, Zanini M, Carelli V. Savini G, et al. Among authors: de negri am. Ophthalmology. 2005 Jan;112(1):127-31. doi: 10.1016/j.ophtha.2004.09.033. Ophthalmology. 2005. PMID: 15629832

10

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.

Quiros PA, Torres RJ, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, De Negri A, Belfort R, Sadun AA. Quiros PA, et al. Br J Ophthalmol. 2006 Feb;90(2):150-3. doi: 10.1136/bjo.2005.074526. Br J Ophthalmol. 2006. PMID: 16424523 Free PMC article.

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