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A. De Negri
Researcher at Sapienza University of Rome
Publications - 9
Citations - 666
A. De Negri is an academic researcher from Sapienza University of Rome. The author has contributed to research in topics: Leber's hereditary optic neuropathy & Parvocellular cell. The author has an hindex of 6, co-authored 9 publications receiving 647 citations.
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Journal Article
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
Antonio Torroni,M. Petrozzi,Leila D'Urbano,Daniele Sellitto,Massimo Zeviani,Franco Carrara,Claudia Carducci,Vincenzo Leuzzi,Valerio Carelli,Piero Barboni,A. De Negri,Rosaria Scozzari +11 more
TL;DR: This analysis shows that the putative secondary/intermediate LHON mutations 4216, 4917, 13708, 15257, and 15812 are ancient polymorphisms, are associated in specific combinations, and define two common Caucasoid-specific haplotypes (haplogroups J and T).
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Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.
Valerio Carelli,Anna Ghelli,Laura Bucchi,Pasquale Montagna,A. De Negri,Vincenzo Leuzzi,Claudia Carducci,Giorgio Lenaz,Elio Lugaresi,M. Degli Esposti +9 more
TL;DR: The results suggest that both 14484 and 14459 mutations may affect amino acids forming the interaction site of ubiquinol product, and the 14484 mutation produces a biochemical defect resembling in part that already reported for the common 11778/ND4 LHON mutation.
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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
Peter A. Quiros,Ronaldo J. Torres,S. R. Salomao,A. Berezovsky,Valerio Carelli,Jerome Sherman,Federico Sadun,A. De Negri,Rubens Belfort,Alfredo A. Sadun +9 more
TL;DR: It now appears that asymptomatic carriers of the LHON mutation are affected by colour vision defects and may manifest other subtle, yet chronic, changes.
Journal ArticleDOI
Psychophysical analysis of contrast processing segregated into magnocellular and parvocellular systems in asymptomatic carriers of 11778 Leber's hereditary optic neuropathy.
Mirella Gualtieri,M. Bandeira,Russell D. Hamer,Marcelo Fernandes da Costa,A. G. F. Oliveira,Ana Laura de Araújo Moura,Federico Sadun,A. De Negri,A. Berezovsky,S. R. Salomao,Valerio Carelli,Alfredo A. Sadun,D. F. Ventura +12 more
TL;DR: The contrast discrimination thresholds of LHON carriers were significantly higher than controls' in the condition with the highest luminance of both SPP and PPP, implying impaired contrast processing with no evidence of differential sensitivity losses between the two systems.
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Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.
TL;DR: In two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss, parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.