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4. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. Nakamura M; Ara F; Yamada M; Hotta Y; Hayakawa M; Fujiki K; Kanai A; Sakai J; Inoue M; Yamamoto M Jpn J Ophthalmol; 1992; 36(1):56-61. PubMed ID: 1635296 [TBL] [Abstract][Full Text] [Related]
5. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Hofmann S; Bezold R; Jaksch M; Obermaier-Kusser B; Mertens S; Kaufhold P; Rabl W; Hecker W; Gerbitz KD Genomics; 1997 Jan; 39(1):8-18. PubMed ID: 9027481 [TBL] [Abstract][Full Text] [Related]
6. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Cock HR; Cooper JM; Schapira AH J Neurol Sci; 1999 May; 165(1):10-7. PubMed ID: 10426140 [TBL] [Abstract][Full Text] [Related]
7. Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. Nakamura M; Fujiwara Y; Yamamoto M Invest Ophthalmol Vis Sci; 1993 Mar; 34(3):488-95. PubMed ID: 8449667 [TBL] [Abstract][Full Text] [Related]
8. 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; 38(2):163-9. PubMed ID: 7654063 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. Energy charge is not decreased in lymphocytes of patients with Leber's hereditary optic neuropathy with the 11,778 mutation. Yen MY; Lee JF; Liu JH; Wei YH J Neuroophthalmol; 1998 Jun; 18(2):84-5. PubMed ID: 9621261 [TBL] [Abstract][Full Text] [Related]
11. Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy. Johns DR; Neufeld MJ; Hedges TR J Neuroophthalmol; 1994 Sep; 14(3):135-40. PubMed ID: 7804416 [TBL] [Abstract][Full Text] [Related]
13. Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with Leber's hereditary optic neuropathy. Isashiki Y; Tabata Y; Kamimura K; Ohba N Jpn J Hum Genet; 1997 Mar; 42(1):187-91. PubMed ID: 9183998 [TBL] [Abstract][Full Text] [Related]
14. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Brown MD; Allen JC; Van Stavern GP; Newman NJ; Wallace DC Am J Med Genet; 2001 Dec; 104(4):331-8. PubMed ID: 11754070 [TBL] [Abstract][Full Text] [Related]
15. [Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy]. Wang Y; Tong Y; Hu SX; Wang JY; Shao JB; Zhang HX Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):397-400. PubMed ID: 17680528 [TBL] [Abstract][Full Text] [Related]
16. A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression. Tanaka A; Kiyosawa M; Mashima Y; Tokoro T J Neuroophthalmol; 1998 Jun; 18(2):81-3. PubMed ID: 9621260 [TBL] [Abstract][Full Text] [Related]
17. 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; 63(6):794-8. PubMed ID: 18496845 [TBL] [Abstract][Full Text] [Related]
18. Mitochondrial DNA mutations associated with the 11778 mutation in Leber's disease. Sawano T; Tanaka M; Ohno K; Yoneda M; Ota Y; Terasaki H; Awaya S; Ozawa T Biochem Mol Biol Int; 1996 Apr; 38(4):693-700. PubMed ID: 8728098 [TBL] [Abstract][Full Text] [Related]
19. Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy. Hwang JM; Kim J; Park SS J Neurol; 2003 Jan; 250(1):87-9. PubMed ID: 12527998 [TBL] [Abstract][Full Text] [Related]
20. [Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba]. Santiesteban-Freixas R; Rodríguez-Hernández M; Mendoza-Santiesteban CE; Carrero-Salgado M; Francisco-Plasencia M; Méndez-Larramendi I; Vidal-Casalís S; Rivero-Reyes R; Hirano M Rev Neurol; 1999 Sep 1-15; 29(5):408-15. PubMed ID: 10584242 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]