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Journal Abstract Search

260 related items for PubMed ID: 11735024

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 75(2):97-107. PubMed ID: 11855928
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 Jun; 37(4):214-24. PubMed ID: 16006781
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 22; 30(7):E692-705. PubMed ID: 19319978
    [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 22; 56(5):719-23. PubMed ID: 15505825
    [Abstract] [Full Text] [Related]

  • 16. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
    Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ.
    Hum Mol Genet; 2001 Jun 15; 10(13):1369-78. PubMed ID: 11440989
    [Abstract] [Full Text] [Related]

  • 17. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
    Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP.
    Nat Genet; 2000 Oct 15; 26(2):207-10. PubMed ID: 11017079
    [Abstract] [Full Text] [Related]

  • 18. High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.
    Gallus GN, Cardaioli E, Rufa A, Collura M, Da Pozzo P, Pretegiani E, Tumino M, Pavone L, Federico A.
    Clin Genet; 2012 Sep 15; 82(3):277-82. PubMed ID: 21745197
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 23(5):481-5. PubMed ID: 17029191
    [Abstract] [Full Text] [Related]

  • 20. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
    Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF.
    Ophthalmology; 2010 Aug 15; 117(8):1538-46, 1546.e1. PubMed ID: 20417570
    [Abstract] [Full Text] [Related]

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