De Negri AM - Search Results

1

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.

Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V. Nardecchia F, et al. Among authors: de negri am. Ann Clin Transl Neurol. 2021 Jan;8(1):247-251. doi: 10.1002/acn3.51232. Epub 2020 Dec 7. Ann Clin Transl Neurol. 2021. PMID: 33285023 Free PMC article.

2

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B. Leuzzi V, et al. Among authors: de negri am. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. J Neurol Neurosurg Psychiatry. 1992. PMID: 1548491 Free PMC article.

3

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

4

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.

5

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.

6

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

7

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

8

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

9

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

10

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

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