PubMed

The OPA1 gene and optic neuropathy.

Alward WL.

Br J Ophthalmol. 2003 Jan;87(1):2-3. No abstract available. PMID: 12488251 [PubMed - indexed for MEDLINE]Related articlesFree article

Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis.

Buono LM, Foroozan R, Sergott RC, Savino PJ.

Curr Opin Ophthalmol. 2002 Dec;13(6):362-70. Review.PMID: 12441838 [PubMed - indexed for MEDLINE]Related articles

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Kim JY, Hwang JM, Ko HS, Seong MW, Park BJ, Park SS.

Neurology. 2005 Mar 22;64(6):966-72.PMID: 15781809 [PubMed - indexed for MEDLINE]Related articles

Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.

Verny C, Loiseau D, Scherer C, Lejeune P, Chevrollier A, Gueguen N, Guillet V, Dubas F, Reynier P, Amati-Bonneau P, Bonneau D.

Neurology. 2008 Mar 25;70(13 Pt 2):1152-3. Epub 2008 Feb 20. No abstract available. PMID: 18287570 [PubMed - indexed for MEDLINE]Related articles

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.

Votruba M, Thiselton D, Bhattacharya SS.

Br J Ophthalmol. 2003 Jan;87(1):48-53.PMID: 12488262 [PubMed - indexed for MEDLINE]Related articlesFree article

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.

Davies VJ, Hollins AJ, Piechota MJ, Yip W, Davies JR, White KE, Nicols PP, Boulton ME, Votruba M.

Hum Mol Genet. 2007 Jun 1;16(11):1307-18. Epub 2007 Apr 11.PMID: 17428816 [PubMed - indexed for MEDLINE]Related articlesFree article

The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms.

Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child AH, Bhattacharya SS, Lehmann OJ, Garway-Heath DF, Hitchings RA.

Br J Ophthalmol. 2003 Feb;87(2):149-52.PMID: 12543739 [PubMed - indexed for MEDLINE]Related articlesFree article

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.

Hum Mutat. 2003 Jun;21(6):656.PMID: 14961560 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N.

Am J Ophthalmol. 2003 Feb;135(2):256-7.PMID: 12566046 [PubMed - indexed for MEDLINE]Related articles

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiéry Y, Reynier P, Bonneau D.

Am J Ophthalmol. 2003 Dec;136(6):1170-1.PMID: 14644237 [PubMed - indexed for MEDLINE]Related articles

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.

Yarosh W, Monserrate J, Tong JJ, Tse S, Le PK, Nguyen K, Brachmann CB, Wallace DC, Huang T.

PLoS Genet. 2008 Jan;4(1):e6.PMID: 18193945 [PubMed - indexed for MEDLINE]Related articlesFree article

OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2567-71. Epub 2009 Feb 21.PMID: 19234344 [PubMed - indexed for MEDLINE]Related articles

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Liguori M, La Russa A, Manna I, Andreoli V, Caracciolo M, Spadafora P, Cittadella R, Quattrone A.

J Neurol. 2008 Jan;255(1):127-9. Epub 2008 Jan 22. No abstract available. PMID: 18204809 [PubMed - indexed for MEDLINE]Related articles

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.

Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.PMID: 17314202 [PubMed - indexed for MEDLINE]Related articlesFree article

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthièry Y, Bonneau D, Lenaers G, Reynier P.

Ann Neurol. 2005 Dec;58(6):958-63.PMID: 16240368 [PubMed - indexed for MEDLINE]Related articles

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.

Shimizu S, Mori N, Kishi M, Sugata H, Tsuda A, Kubota N.

Jpn J Ophthalmol. 2002 May-Jun;46(3):336-40.PMID: 12063046 [PubMed - indexed for MEDLINE]Related articles

Molecular genetic basis of primary inherited optic neuropathies.

Votruba M.

Eye (Lond). 2004 Nov;18(11):1126-32. Review.PMID: 15534598 [PubMed - indexed for MEDLINE]Related articles

Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene.

Gränse L, Bergstrand I, Thiselton D, Ponjavic V, Heijl A, Votruba M, Andréasson S.

Ophthalmic Genet. 2003 Dec;24(4):233-45.PMID: 14566653 [PubMed - indexed for MEDLINE]Related articles

Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.

Ito Y, Nakamura M, Yamakoshi T, Lin J, Yatsuya H, Terasaki H.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4079-86.PMID: 17724190 [PubMed - indexed for MEDLINE]Related articlesFree article

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.

Am J Ophthalmol. 2004 Nov;138(5):749-55.PMID: 15531309 [PubMed - indexed for MEDLINE]Related articles