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Journal Abstract Search

497 related items for PubMed ID: 15781809

  • 21. 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
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  • 24. 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
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  • 27. Mitochondrial abnormalities in patients with LHON-like optic neuropathies.
    Abu-Amero KK, Bosley TM.
    Invest Ophthalmol Vis Sci; 2006 Oct; 47(10):4211-20. PubMed ID: 17003408
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  • 28. 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; 26(2):207-10. PubMed ID: 11017079
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  • 32. Mitochondrial changes in leukocytes of patients with optic neuritis.
    Bosley TM, Constantinescu CS, Tench CR, Abu-Amero KK.
    Mol Vis; 2007 Aug 29; 13():1516-28. PubMed ID: 17893651
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  • 33. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
    Formichi P, Radi E, Giorgi E, Gallus GN, Brunetti J, Battisti C, Rufa A, Dotti MT, Franceschini R, Bracci L, Federico A.
    J Neurol Sci; 2015 Apr 15; 351(1-2):99-108. PubMed ID: 25796301
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  • 34. 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 Apr 15; 37(4):214-24. PubMed ID: 16006781
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  • 36. 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 15; 135(Pt 12):3599-613. PubMed ID: 23250881
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  • 37. eOPA1: an online database for OPA1 mutations.
    Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P.
    Hum Mutat; 2005 May 15; 25(5):423-8. PubMed ID: 15832306
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  • 40. 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 15; 130(Pt 4):1029-42. PubMed ID: 17314202
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