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Journal Abstract Search

76 related items for PubMed ID: 11548782

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  • 2. Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms.
    Batandier C, Picard A, Tessier N, Lunardi J.
    Hum Mutat; 2000 Dec; 16(6):532. PubMed ID: 11102991
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  • 4. Leber's hereditary optic neuropathy and complex I deficiency in muscle.
    Larsson NG, Andersen O, Holme E, Oldfors A, Wahlström J.
    Ann Neurol; 1991 Nov; 30(5):701-8. PubMed ID: 1763894
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  • 5. Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss.
    Jacobson DM, Stone EM.
    J Clin Neuroophthalmol; 1991 Sep; 11(3):152-7. PubMed ID: 1836796
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  • 6. Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
    Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V.
    Hum Mutat; 1997 Sep; 10(3):212-6. PubMed ID: 9298821
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  • 8. Stargardt's type maculopathy in a patient with 11778 Leber's optic neuropathy.
    Yen MY, Wei YH, Liu JH.
    J Neuroophthalmol; 1996 Jun; 16(2):120-3. PubMed ID: 8797169
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  • 11. A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
    Parker WD, Oley CA, Parks JK.
    N Engl J Med; 1989 May 18; 320(20):1331-3. PubMed ID: 2497346
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  • 12. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.
    Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J.
    Am J Hum Genet; 1994 Jul 18; 55(1):203-6. PubMed ID: 8023847
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  • 13. [LHON (Leber's hereditary optic neuropathy)].
    Mashima Y.
    Nihon Rinsho; 2002 Apr 18; 60 Suppl 4():282-6. PubMed ID: 12013866
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  • 14. [Optic atrophy/dystonia].
    Ishii A, Ohkoshi N.
    Ryoikibetsu Shokogun Shirizu; 2001 Apr 18; (36):203-8. PubMed ID: 11596371
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  • 17. Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysis.
    Isashiki Y, Ohba N, Uto M, Nakagawa M, Nakano T, Kitahara K, Hotta A, Okamura R, Ozaki M, Futami Y.
    Jpn J Ophthalmol; 1992 Apr 18; 36(2):197-204. PubMed ID: 1513067
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