PubMed

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.

Br J Ophthalmol. 2006 Feb;90(2):150-3.PMID: 16424523 [PubMed - indexed for MEDLINE]Related articlesFree article

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.

Ventura DF, Gualtieri M, Oliveira AG, Costa MF, Quiros P, Sadun F, de Negri AM, Salomão SR, Berezovsky A, Sherman J, Sadun AA, Carelli V.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70.PMID: 17460303 [PubMed - indexed for MEDLINE]Related articlesFree article

Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy.

Ramos Cdo V, Bellusci C, Savini G, Carbonelli M, Berezovsky A, Tamaki C, Cinoto R, Sacai PY, Moraes-Filho MN, Miura HM, Valentino ML, Iommarini L, De Negri AM, Sadun F, Cortelli P, Montagna P, Salomao SR, Sadun AA, Carelli V, Barboni P.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1666-74. Epub 2008 Dec 20.PMID: 19098324 [PubMed - indexed for MEDLINE]Related articles

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective psychophysical study.

Sadun AA, Salomao SR, Berezovsky A, Sadun F, Denegri AM, Quiros PA, Chicani F, Ventura D, Barboni P, Sherman J, Sutter E, Belfort R Jr, Carelli V.

Trans Am Ophthalmol Soc. 2006;104:51-61.PMID: 17471325 [PubMed - indexed for MEDLINE]Related articlesFree article

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

Ventura DF, Quiros P, Carelli V, Salomão SR, Gualtieri M, Oliveira AG, Costa MF, Berezovsky A, Sadun F, de Negri AM, Sadun AA.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4809-14.PMID: 16303983 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Am J Ophthalmol. 2003 Aug;136(2):231-8.PMID: 12888043 [PubMed - indexed for MEDLINE]Related articles

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.

Trans Am Ophthalmol Soc. 2002;100:169-78; discussion 178-9.PMID: 12545691 [PubMed - indexed for MEDLINE]Related articlesFree article

mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.

Nishioka T, Soemantri A, Ishida T.

J Hum Genet. 2004;49(12):701-5. Epub 2004 Nov 16.PMID: 15635488 [PubMed - indexed for MEDLINE]Related articles

Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy.

Salomão SR, Berezovsky A, Andrade RE, Belfort R Jr, Carelli V, Sadun AA.

Doc Ophthalmol. 2004 Mar;108(2):147-55.PMID: 15455797 [PubMed - indexed for MEDLINE]Related articles

The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

Brown MD, Starikovskaya E, Derbeneva O, Hosseini S, Allen JC, Mikhailovskaya IE, Sukernik RI, Wallace DC.

Hum Genet. 2002 Feb;110(2):130-8. Epub 2002 Jan 24.PMID: 11935318 [PubMed - indexed for MEDLINE]Related articles

Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation.

Yen MY, Chen CS, Wang AG, Wei YH.

Br J Ophthalmol. 2002 Sep;86(9):1027-30.PMID: 12185132 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber's hereditary optic neuropathy with childhood onset.

Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V.

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9.PMID: 17122117 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.

Yen MY, Wang AG, Chang WL, Hsu WM, Liu JH, Wei YH.

Jpn J Ophthalmol. 2002 Jan-Feb;46(1):45-51.PMID: 11853713 [PubMed - indexed for MEDLINE]Related articles

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.

Ophthalmology. 2005 Jan;112(1):127-31.PMID: 15629832 [PubMed - indexed for MEDLINE]Related articles

[Past, present, and future in Leber's hereditary optic neuropathy]

Oguchi Y.

Nippon Ganka Gakkai Zasshi. 2001 Dec;105(12):809-27. Review. Japanese. PMID: 11802455 [PubMed - indexed for MEDLINE]Related articles

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.

Howell N, Herrnstadt C, Shults C, Mackey DA.

Am J Med Genet A. 2003 Jun 1;119A(2):147-51.PMID: 12749053 [PubMed - indexed for MEDLINE]Related articles

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

Nishioka T, Tasaki M, Soemantri A, Dyat M, Susanto JC, Tamam M, Sudarmanto B, Ishida T.

J Hum Genet. 2003;48(7):385-9. Epub 2003 Jun 24.PMID: 12827453 [PubMed - indexed for MEDLINE]Related articles

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE.

Am J Ophthalmol. 2006 Apr;141(4):676-82.PMID: 16564802 [PubMed - indexed for MEDLINE]Related articles

[Sudden blindness: consider Leber's hereditary optic neuropathy]

Schieving JH, de Vries BB, Hol F, Stroink H.

Ned Tijdschr Geneeskd. 2008 Oct 25;152(43):2313-6. Dutch. PMID: 19024058 [PubMed - indexed for MEDLINE]Related articles

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

Mayorov V, Biousse V, Newman NJ, Brown MD.

Ann Neurol. 2005 Nov;58(5):807-11.PMID: 16240359 [PubMed - indexed for MEDLINE]Related articles