These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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]
5. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Alexander C; Votruba M; Pesch UE; Thiselton DL; Mayer S; Moore A; Rodriguez M; Kellner U; Leo-Kottler B; Auburger G; Bhattacharya SS; Wissinger B Nat Genet; 2000 Oct; 26(2):211-5. PubMed ID: 11017080 [TBL] [Abstract][Full Text] [Related]
6. 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]
11. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754 [TBL] [Abstract][Full Text] [Related]
12. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Nakamura M; Lin J; Ueno S; Asaoka R; Hirai T; Hotta Y; Miyake Y; Terasaki H Ophthalmology; 2006 Mar; 113(3):483-488.e1. PubMed ID: 16513463 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. The natural history of OPA1-related autosomal dominant optic atrophy. Cohn AC; Toomes C; Hewitt AW; Kearns LS; Inglehearn CF; Craig JE; Mackey DA Br J Ophthalmol; 2008 Oct; 92(10):1333-6. PubMed ID: 18653586 [TBL] [Abstract][Full Text] [Related]
15. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Lodi R; Tonon C; Valentino ML; Iotti S; Clementi V; Malucelli E; Barboni P; Longanesi L; Schimpf S; Wissinger B; Baruzzi A; Barbiroli B; Carelli V Ann Neurol; 2004 Nov; 56(5):719-23. PubMed ID: 15505825 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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. PubMed ID: 17724190 [TBL] [Abstract][Full Text] [Related]
19. eOPA1: an online database for OPA1 mutations. Ferré M; Amati-Bonneau P; Tourmen Y; Malthièry Y; Reynier P Hum Mutat; 2005 May; 25(5):423-8. PubMed ID: 15832306 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Milone M; Younge BR; Wang J; Zhang S; Wong LJ Mitochondrion; 2009 Jul; 9(4):279-81. PubMed ID: 19303950 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]