312 related articles for article (PubMed ID: 31743754)
1. Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.
Jancic J; Rovcanin B; Djuric V; Pepic A; Samardzic J; Nikolic B; Novakovic I; Kostic VS
Mitochondrion; 2020 Jan; 50():132-138. PubMed ID: 31743754
[TBL] [Abstract][Full Text] [Related]
2. In silico model of mtDNA mutations effect on secondary and 3D structure of mitochondrial rRNA and tRNA in Leber's hereditary optic neuropathy.
Rovcanin B; Jancic J; Samardzic J; Rovcanin M; Nikolic B; Ivancevic N; Novakovic I; Kostic V
Exp Eye Res; 2020 Dec; 201():108277. PubMed ID: 32991883
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy.
Dawod PGA; Jancic J; Marjanovic A; Brankovic M; Jankovic M; Samardzic J; Potkonjak D; Djuric V; Mesaros S; Novakovic I; Abdel Motaleb FI; Kostic VS; Nikolic D
Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887465
[TBL] [Abstract][Full Text] [Related]
5. Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.
Yum HR; Chae H; Shin SY; Kim Y; Kim M; Park SH
Invest Ophthalmol Vis Sci; 2014 Oct; 55(12):8095-101. PubMed ID: 25342614
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang P; Liang M; Zhang C; Zhao X; He Q; Cui L; Liu X; Sun YH; Fu Q; Ji Y; Bai Y; Huang T; Guan MX
Hum Mol Genet; 2016 Aug; 25(16):3613-3625. PubMed ID: 27427386
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Lu Y; Yi Q; Chen M; Xie S; Mao X; Xiao Y; Meng F; Zhang M; Yang R; Guan MX
J Biol Chem; 2020 Sep; 295(38):13224-13238. PubMed ID: 32723871
[TBL] [Abstract][Full Text] [Related]
11. Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.
Cheng HC; Chi SC; Liang CY; Yu JY; Wang AG
Int J Mol Sci; 2022 Oct; 23(19):. PubMed ID: 36233195
[TBL] [Abstract][Full Text] [Related]
12. [Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].
Andreeva NA; Murakhovskaya YK; Tsygankova PG; Krilova TD; Sheremet NL
Vestn Oftalmol; 2022; 138(5. Vyp. 2):208-214. PubMed ID: 36287157
[TBL] [Abstract][Full Text] [Related]
13. Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
Jin X; Wang L; Gong Y; Chen B; Wang Y; Chen T; Wei S
Ophthalmic Genet; 2015; 36(4):291-8. PubMed ID: 24417559
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial tRNAAla 5601C>T variant may affect the clinical expression of the LHON‑related ND4 11778G>A mutation in a family.
Ding Y; Ye YF; Li MY; Xia BH; Leng JH
Mol Med Rep; 2020 Jan; 21(1):201-208. PubMed ID: 31939618
[TBL] [Abstract][Full Text] [Related]
15. ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait.
Behbehani R; Melhem M; Alghanim G; Behbehani K; Alsmadi O
Br J Ophthalmol; 2014 Jun; 98(6):826-31. PubMed ID: 24568867
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
Bianco A; Bisceglia L; Trerotoli P; Russo L; D'Agruma L; Guerriero S; Petruzzella V
Acta Myol; 2017 Sep; 36(3):163-177. PubMed ID: 29774306
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
