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Journal Abstract Search

441 related items for PubMed ID: 14961560

  • 1. 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
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  • 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
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  • 3. 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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  • 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. 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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  • 7. 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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  • 10. 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 22; 211(2):423-30. PubMed ID: 17167772
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  • 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 22; 113(3):483-488.e1. PubMed ID: 16513463
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  • 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
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  • 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 22; 109(5):498-502. PubMed ID: 11735024
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  • 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 22; 41(10):1855-65. PubMed ID: 19389487
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  • 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 22; 48(9):4079-86. PubMed ID: 17724190
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  • 19. eOPA1: an online database for OPA1 mutations.
    Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P.
    Hum Mutat; 2005 May 22; 25(5):423-8. PubMed ID: 15832306
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  • 20. Mitochondrial disorder with OPA1 mutation lacking optic atrophy.
    Milone M, Younge BR, Wang J, Zhang S, Wong LJ.
    Mitochondrion; 2009 Jul 22; 9(4):279-81. PubMed ID: 19303950
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