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Journal Abstract Search

249 related items for PubMed ID: 17029191

  • 1. 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
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  • 2. 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
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  • 3. 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
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  • 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 22; 64(6):966-72. PubMed ID: 15781809
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  • 5. 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 22; 143(4):656-62. PubMed ID: 17306754
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  • 6. 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 22; 21(6):656. PubMed ID: 14961560
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  • 7. 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 22; 109(6):584-91. PubMed ID: 11810270
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  • 8. 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 22; 83(3):702-6. PubMed ID: 16698014
    [Abstract] [Full Text] [Related]

  • 9. 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 22; 83(3):337-46. PubMed ID: 15948788
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  • 10. 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 22; 92(10):1333-6. PubMed ID: 18653586
    [Abstract] [Full Text] [Related]

  • 11. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
    Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP.
    Mol Genet Metab; 2002 Feb 22; 75(2):97-107. PubMed ID: 11855928
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  • 13. 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 22; 26(2):211-5. PubMed ID: 11017080
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  • 16. 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 22; 56(5):719-23. PubMed ID: 15505825
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  • 17. 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 Nov 22; 37(4):214-24. PubMed ID: 16006781
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