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Journal Abstract Search

211 related items for PubMed ID: 15832306

  • 21.
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  • 22. Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?
    Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA.
    Ophthalmic Genet; 2010 Mar; 31(1):44-6. PubMed ID: 20141358
    [Abstract] [Full Text] [Related]

  • 23. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
    Ham M, Han J, Osann K, Smith M, Kimonis V.
    Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240
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  • 24. 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; 211(2):423-30. PubMed ID: 17167772
    [Abstract] [Full Text] [Related]

  • 25. Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
    Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A.
    J Neurol Sci; 2017 Nov 15; 382():29-35. PubMed ID: 29111013
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  • 26. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
    Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B.
    J Med Genet; 2009 Feb 15; 46(2):136-44. PubMed ID: 19181907
    [Abstract] [Full Text] [Related]

  • 27. 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 15; 109(4):393-9. PubMed ID: 15700187
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  • 29. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.
    Ahmad KE, Davis RL, Sue CM.
    J Neurol; 2015 Oct 15; 262(10):2323-8. PubMed ID: 26194196
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  • 32. Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
    Bolognini R, Gerth-Kahlert C, Abegg M, Bartholdi D, Mathis N, Sturm V, Gallati S, Schaller A.
    BMC Med Genet; 2017 Feb 28; 18(1):22. PubMed ID: 28245802
    [Abstract] [Full Text] [Related]

  • 33. 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 28; 82(3):277-82. PubMed ID: 21745197
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  • 38. Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.
    Namba K, Mutai H, Takiguchi Y, Yagi H, Okuyama T, Oba S, Yamagishi R, Kaneko H, Shintani T, Kaga K, Matsunaga T.
    Otol Neurotol; 2016 Apr 28; 37(4):394-402. PubMed ID: 26905822
    [Abstract] [Full Text] [Related]

  • 39. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
    Votruba M, Thiselton D, Bhattacharya SS.
    Br J Ophthalmol; 2003 Jan 28; 87(1):48-53. PubMed ID: 12488262
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