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46. Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy. Ahn YJ; Park Y; Shin SY; Chae H; Kim M; Park SH Graefes Arch Clin Exp Ophthalmol; 2020 Oct; 258(10):2283-2290. PubMed ID: 32506279 [TBL] [Abstract][Full Text] [Related]
48. Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy. Kumar M; Tanwar M; Saxena R; Sharma P; Dada R Mol Vis; 2010 Apr; 16():782-92. PubMed ID: 20454697 [TBL] [Abstract][Full Text] [Related]
49. Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Fauser S; Luberichs J; Besch D; Leo-Kottler B Biochem Biophys Res Commun; 2002 Jul; 295(2):342-7. PubMed ID: 12150954 [TBL] [Abstract][Full Text] [Related]
50. Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. Hudson G; Yu-Wai-Man P; Griffiths PG; Horvath R; Carelli V; Zeviani M; Chinnery PF Mitochondrion; 2011 Jul; 11(4):620-2. PubMed ID: 21397051 [TBL] [Abstract][Full Text] [Related]
51. Leber's hereditary optic neuropathy - Case report. Iorga RE; Mihailovici R; Ozturk MR; Costin D Rom J Ophthalmol; 2018; 62(1):64-71. PubMed ID: 29796436 [TBL] [Abstract][Full Text] [Related]
52. Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Catarino CB; Ahting U; Gusic M; Iuso A; Repp B; Peters K; Biskup S; von Livonius B; Prokisch H; Klopstock T Mitochondrion; 2017 Sep; 36():15-20. PubMed ID: 27721048 [TBL] [Abstract][Full Text] [Related]
53. Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. Ji Y; Zhang J; Yu J; Wang Y; Lu Y; Liang M; Li Q; Jin X; Wei Y; Meng F; Gao Y; Cang X; Tong Y; Liu X; Zhang M; Jiang P; Zhu T; Mo JQ; Huang T; Jiang P; Guan MX Hum Mol Genet; 2019 May; 28(9):1515-1529. PubMed ID: 30597069 [TBL] [Abstract][Full Text] [Related]
54. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Klopstock T; Yu-Wai-Man P; Dimitriadis K; Rouleau J; Heck S; Bailie M; Atawan A; Chattopadhyay S; Schubert M; Garip A; Kernt M; Petraki D; Rummey C; Leinonen M; Metz G; Griffiths PG; Meier T; Chinnery PF Brain; 2011 Sep; 134(Pt 9):2677-86. PubMed ID: 21788663 [TBL] [Abstract][Full Text] [Related]
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56. Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Martin-Kleiner I; Gabrilovac J; Bradvica M; Vidović T; Cerovski B; Fumić K; Boranić M Coll Antropol; 2006 Mar; 30(1):171-4. PubMed ID: 16617593 [TBL] [Abstract][Full Text] [Related]