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23. Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity. Cruz-Bermúdez A; Vicente-Blanco RJ; Hernández-Sierra R; Montero M; Alvarez J; González Manrique M; Blázquez A; Martín MA; Ayuso C; Garesse R; Fernández-Moreno MA PLoS One; 2016; 11(1):e0146816. PubMed ID: 26784702 [TBL] [Abstract][Full Text] [Related]
24. Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report. Bianco A; Bisceglia L; De Caro MF; Galeandro V; De Bonis P; Tullo A; Zoccolella S; Guerriero S; Petruzzella V BMC Med Genet; 2018 Jul; 19(1):129. PubMed ID: 30053855 [TBL] [Abstract][Full Text] [Related]
25. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310 [TBL] [Abstract][Full Text] [Related]
26. A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy. Mimaki M; Ikota A; Sato A; Komaki H; Akanuma J; Nonaka I; Goto Y J Hum Genet; 2003; 48(1):47-50. PubMed ID: 12560876 [TBL] [Abstract][Full Text] [Related]
27. Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy. Sudoyo H; Suryadi H; Lertrit P; Pramoonjago P; Lyrawati D; Marzuki S J Hum Genet; 2002; 47(11):594-604. PubMed ID: 12436196 [TBL] [Abstract][Full Text] [Related]
28. [Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood]. Yang JH; Tong Y; Li BH; Chen YK Zhonghua Yan Ke Za Zhi; 2005 Mar; 41(3):243-5. PubMed ID: 15840367 [TBL] [Abstract][Full Text] [Related]
29. [Past, present, and future in Leber's hereditary optic neuropathy]. Oguchi Y Nippon Ganka Gakkai Zasshi; 2001 Dec; 105(12):809-27. PubMed ID: 11802455 [TBL] [Abstract][Full Text] [Related]
30. 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]
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37. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Chinnery PF; Brown DT; Andrews RM; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth DA; Turnbull DM; Howell N Brain; 2001 Jan; 124(Pt 1):209-18. PubMed ID: 11133798 [TBL] [Abstract][Full Text] [Related]
38. [A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation]. Sun Y; Lei K; Xu ZL; Geng Y Zhonghua Yan Ke Za Zhi; 2018 Jul; 54(7):526-534. PubMed ID: 29996615 [No Abstract] [Full Text] [Related]
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