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5. 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. PubMed ID: 15531309 [TBL] [Abstract][Full Text] [Related]
6. 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; 64(6):966-72. PubMed ID: 15781809 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 14961560 [TBL] [Abstract][Full Text] [Related]
8. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Thiselton DL; Alexander C; Morris A; Brooks S; Rosenberg T; Eiberg H; Kjer B; Kjer P; Bhattacharya SS; Votruba M Hum Genet; 2001 Nov; 109(5):498-502. PubMed ID: 11735024 [TBL] [Abstract][Full Text] [Related]
9. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970 [TBL] [Abstract][Full Text] [Related]
10. Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Dadgar S; Hagens O; Dadgar SR; Haghighi EN; Schimpf S; Wissinger B; Garshasbi M Exp Eye Res; 2006 Sep; 83(3):702-6. PubMed ID: 16698014 [TBL] [Abstract][Full Text] [Related]
14. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family. Ke T; Nie SW; Yang QB; Liu JP; Zhou LN; Ren X; Liu JY; Wang Q; Liu MG Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):481-5. PubMed ID: 17029191 [TBL] [Abstract][Full Text] [Related]
15. OPA1-associated disorders: phenotypes and pathophysiology. Amati-Bonneau P; Milea D; Bonneau D; Chevrollier A; Ferré M; Guillet V; Gueguen N; Loiseau D; de Crescenzo MA; Verny C; Procaccio V; Lenaers G; Reynier P Int J Biochem Cell Biol; 2009 Oct; 41(10):1855-65. PubMed ID: 19389487 [TBL] [Abstract][Full Text] [Related]
16. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Abu-Amero KK; Bosley TM Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4211-20. PubMed ID: 17003408 [TBL] [Abstract][Full Text] [Related]