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Journal Abstract Search

331 related items for PubMed ID: 8016139

  • 1. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
    Jun AS, Brown MD, Wallace DC.
    Proc Natl Acad Sci U S A; 1994 Jun 21; 91(13):6206-10. PubMed ID: 8016139
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  • 2. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
    Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC.
    Mol Cell Biol; 1996 Mar 21; 16(3):771-7. PubMed ID: 8622678
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  • 6. Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
    Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.
    Biochem Biophys Res Commun; 1997 May 19; 234(2):511-5. PubMed ID: 9177303
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  • 13. Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
    Huoponen K, Vilkki J, Savontaus ML, Aula P, Nikoskelainen EK.
    Genomics; 1990 Nov 19; 8(3):583-5. PubMed ID: 2286378
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  • 14. Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.
    Johns DR.
    Am J Hum Genet; 1991 Jun 19; 48(6):1209-13. PubMed ID: 2035540
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  • 15. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.
    Shoffner JM, Brown MD, Stugard C, Jun AS, Pollock S, Haas RH, Kaufman A, Koontz D, Kim Y, Graham JR.
    Ann Neurol; 1995 Aug 19; 38(2):163-9. PubMed ID: 7654063
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  • 18. Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
    Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B.
    Ger J Ophthalmol; 1996 Jul 19; 5(4):233-40. PubMed ID: 8854108
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  • 19. New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
    Martínez-Romero Í, Herrero-Martín MD, Llobet L, Emperador S, Martín-Navarro A, Narberhaus B, Ascaso FJ, López-Gallardo E, Montoya J, Ruiz-Pesini E.
    Clin Exp Ophthalmol; 2014 Dec 19; 42(9):856-64. PubMed ID: 24800637
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