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2. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India. Khan NA; Govindaraj P; Soumittra N; Sharma S; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Bindu PS; Gayathri N; Taly AB; Thangaraj K Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3923-3930. PubMed ID: 28768321 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel. Dai Y; Wang C; Nie Z; Han J; Chen T; Zhao X; Ai C; Ji Y; Gao T; Jiang P Biomed Rep; 2018 Jan; 8(1):51-58. PubMed ID: 29387390 [TBL] [Abstract][Full Text] [Related]
5. Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON). Buonfiglio PI; Menazzi S; Francipane L; Lotersztein V; Ferreiro V; Elgoyhen AB; Dalamón V PLoS One; 2023; 18(2):e0275703. PubMed ID: 36827238 [TBL] [Abstract][Full Text] [Related]
6. Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON). Peron C; Mauceri R; Cabassi T; Segnali A; Maresca A; Iannielli A; Rizzo A; Sciacca FL; Broccoli V; Carelli V; Tiranti V Stem Cell Res; 2020 Oct; 48():101939. PubMed ID: 32771908 [TBL] [Abstract][Full Text] [Related]
7. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. La Morgia C; Caporali L; Gandini F; Olivieri A; Toni F; Nassetti S; Brunetto D; Stipa C; Scaduto C; Parmeggiani A; Tonon C; Lodi R; Torroni A; Carelli V BMC Neurol; 2014 May; 14():116. PubMed ID: 24884847 [TBL] [Abstract][Full Text] [Related]
8. Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy. Ji Y; Liang M; Zhang J; Zhu L; Zhang Z; Fu R; Liu X; Zhang M; Fu Q; Zhao F; Tong Y; Sun Y; Jiang P; Guan MX Invest Ophthalmol Vis Sci; 2016 May; 57(6):2377-89. PubMed ID: 27177320 [TBL] [Abstract][Full Text] [Related]
9. Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber's hereditary optic neuropathy. Shuai J; Shi J; Liang Y; Ji F; Gu L; Yuan Z Ir J Med Sci; 2022 Apr; 191(2):865-876. PubMed ID: 34053002 [TBL] [Abstract][Full Text] [Related]
10. Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the Vandeputte J; Van Heetvelde M; Van Cauwenbergh C; Seneca S; De Baere E; Leroy BP; De Zaeytijd J Ophthalmic Genet; 2021 Aug; 42(4):440-445. PubMed ID: 33858285 [TBL] [Abstract][Full Text] [Related]
11. Leber's Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development. Karaarslan C Adv Ther; 2019 Dec; 36(12):3299-3307. PubMed ID: 31605306 [TBL] [Abstract][Full Text] [Related]
12. Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy. Ji Y; Zhang J; Liang M; Meng F; Zhang M; Mo JQ; Wang M; Guan MX Mitochondrion; 2022 Jul; 65():56-66. PubMed ID: 35623556 [TBL] [Abstract][Full Text] [Related]
13. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy. Jiang P; Liang M; Zhang J; Gao Y; He Z; Yu H; Zhao F; Ji Y; Liu X; Zhang M; Fu Q; Tong Y; Sun Y; Zhou X; Huang T; Qu J; Guan MX Invest Ophthalmol Vis Sci; 2015 Jul; 56(8):4778-88. PubMed ID: 26218905 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients. Zhang AM; Jia X; Guo X; Zhang Q; Yao YG J Transl Med; 2012 Mar; 10():43. PubMed ID: 22400981 [TBL] [Abstract][Full Text] [Related]
17. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations. Zou Y; Jia X; Zhang AM; Wang WZ; Li S; Guo X; Kong QP; Zhang Q; Yao YG Biochem Biophys Res Commun; 2010 Aug; 399(2):179-85. PubMed ID: 20643099 [TBL] [Abstract][Full Text] [Related]
18. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation]. Meng X; Zhu J; Gao M; Zhang S; Zhao F; Zhang J; Liu X; Wei Q; Tong Y; Zhang M; Qu J; Guan M Yi Chuan; 2014 Apr; 36(4):336-45. PubMed ID: 24846978 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial DNA Variation of Leber's Hereditary Optic Neuropathy in Western Siberia. Starikovskaya E; Shalaurova S; Dryomov S; Nazhmidenova A; Volodko N; Bychkov I; Mazunin I; Sukernik R Cells; 2019 Dec; 8(12):. PubMed ID: 31817256 [TBL] [Abstract][Full Text] [Related]