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Journal Abstract Search

515 related items for PubMed ID: 19389487

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

  • 2. 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]

  • 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 22; 43(6):1715-24. PubMed ID: 12036970
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. OPA1 functions in mitochondria and dysfunctions in optic nerve.
    Lenaers G, Reynier P, Elachouri G, Soukkarieh C, Olichon A, Belenguer P, Baricault L, Ducommun B, Hamel C, Delettre C.
    Int J Biochem Cell Biol; 2009 Oct 22; 41(10):1866-74. PubMed ID: 19389483
    [Abstract] [Full Text] [Related]

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

  • 7. Hereditary optic neuropathies share a common mitochondrial coupling defect.
    Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.
    Ann Neurol; 2008 Jun 22; 63(6):794-8. PubMed ID: 18496845
    [Abstract] [Full Text] [Related]

  • 8. Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.
    Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, Hamel CP.
    Invest Ophthalmol Vis Sci; 2005 Nov 22; 46(11):4288-94. PubMed ID: 16249510
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

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

  • 11. OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.
    Bette S, Schlaszus H, Wissinger B, Meyermann R, Mittelbronn M.
    Acta Neuropathol; 2005 Apr 22; 109(4):393-9. PubMed ID: 15700187
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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
    [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. Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations.
    Miyata K, Nakamura M, Kondo M, Lin J, Ueno S, Miyake Y, Terasaki H.
    Invest Ophthalmol Vis Sci; 2007 Feb 22; 48(2):820-4. PubMed ID: 17251483
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
    Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.
    Brain; 2007 Apr 22; 130(Pt 4):1029-42. PubMed ID: 17314202
    [Abstract] [Full Text] [Related]

  • 18. Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.
    Verny C, Loiseau D, Scherer C, Lejeune P, Chevrollier A, Gueguen N, Guillet V, Dubas F, Reynier P, Amati-Bonneau P, Bonneau D.
    Neurology; 2008 Mar 25; 70(13 Pt 2):1152-3. PubMed ID: 18287570
    [No Abstract] [Full Text] [Related]

  • 19. The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
    Sarzi E, Angebault C, Seveno M, Gueguen N, Chaix B, Bielicki G, Boddaert N, Mausset-Bonnefont AL, Cazevieille C, Rigau V, Renou JP, Wang J, Delettre C, Brabet P, Puel JL, Hamel CP, Reynier P, Lenaers G.
    Brain; 2012 Dec 25; 135(Pt 12):3599-613. PubMed ID: 23250881
    [Abstract] [Full Text] [Related]

  • 20. [Genetic basis of hereditary optic atrophies].
    Wawrocka A, Krawczyński MR.
    Klin Oczna; 2007 Dec 25; 109(10-12):470-4. PubMed ID: 18488399
    [Abstract] [Full Text] [Related]

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