801 related articles for article (PubMed ID: 12036970)
1. 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]
2. 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]
3. 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]
4. 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]
5. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A; Huoponen K; Mäntyjärvi M; Hämäläinen P; Paananen R; Sankila EM; Savontaus ML; Somer M; Nikoskelainen E
Acta Ophthalmol Scand; 2005 Jun; 83(3):337-46. PubMed ID: 15948788
[TBL] [Abstract][Full Text] [Related]
9. Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Schimpf S; Fuhrmann N; Schaich S; Wissinger B
Hum Mutat; 2008 Jan; 29(1):106-12. PubMed ID: 17722006
[TBL] [Abstract][Full Text] [Related]
10. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C; Griffoin JM; Kaplan J; Dollfus H; Lorenz B; Faivre L; Lenaers G; Belenguer P; Hamel CP
Hum Genet; 2001 Dec; 109(6):584-91. PubMed ID: 11810270
[TBL] [Abstract][Full Text] [Related]
13. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Olichon A; Landes T; Arnauné-Pelloquin L; Emorine LJ; Mils V; Guichet A; Delettre C; Hamel C; Amati-Bonneau P; Bonneau D; Reynier P; Lenaers G; Belenguer P
J Cell Physiol; 2007 May; 211(2):423-30. PubMed ID: 17167772
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M; Bonneau D; Milea D; Chevrollier A; Verny C; Dollfus H; Ayuso C; Defoort S; Vignal C; Zanlonghi X; Charlin JF; Kaplan J; Odent S; Hamel CP; Procaccio V; Reynier P; Amati-Bonneau P
Hum Mutat; 2009 Jul; 30(7):E692-705. PubMed ID: 19319978
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]