269 related articles for article (PubMed ID: 11393411)
1. An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.
Higashikata T; Koyama J; Shimada H; Yazaki M; Owa M; Ikeda S
Intern Med; 2001 May; 40(5):405-8. PubMed ID: 11393411
[TBL] [Abstract][Full Text] [Related]
2. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
Chomyn A; Enriquez JA; Micol V; Fernandez-Silva P; Attardi G
J Biol Chem; 2000 Jun; 275(25):19198-209. PubMed ID: 10858457
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
Thajeb P; Lee HC; Pang CY; Jeng CM; Huang SF; Wei YH
Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan; 63(1):71-6. PubMed ID: 10645055
[TBL] [Abstract][Full Text] [Related]
4. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Li R; Guan MX
Mol Cell Biol; 2010 May; 30(9):2147-54. PubMed ID: 20194621
[TBL] [Abstract][Full Text] [Related]
5. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.
Goto M; Komaki H; Saito T; Saito Y; Nakagawa E; Sugai K; Sasaki M; Nishino I; Goto Y
Brain Dev; 2014 Feb; 36(2):180-2. PubMed ID: 23582502
[TBL] [Abstract][Full Text] [Related]
6. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
Remes AM; Majamaa K; Herva R; Hassinen IE
Neurology; 1993 May; 43(5):1015-20. PubMed ID: 8492919
[TBL] [Abstract][Full Text] [Related]
7. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
van den Ouweland JM; Lemkes HH; Trembath RC; Ross R; Velho G; Cohen D; Froguel P; Maassen JA
Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.
Kawakami Y; Sakuta R; Hashimoto K; Fujino O; Fujita T; Hida M; Horai S; Goto Y; Nonaka I
Ann Neurol; 1994 Mar; 35(3):370-3. PubMed ID: 8122892
[TBL] [Abstract][Full Text] [Related]
9. Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.
Hamazaki S; Koshiba M; Sugiyama T
Acta Pathol Jpn; 1993 Apr; 43(4):187-91. PubMed ID: 8493868
[TBL] [Abstract][Full Text] [Related]
10. A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Sato W; Hayasaka K; Shoji Y; Takahashi T; Takada G; Saito M; Fukawa O; Wachi E
Biochem Mol Biol Int; 1994 Aug; 33(6):1055-61. PubMed ID: 7804130
[TBL] [Abstract][Full Text] [Related]
11. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
Delgado-Sánchez R; Zárate-Moysen A; Monsalvo-Reyes A; Herrero MD; Ruiz-Pesini E; López-Pérez M; Montoya J; Montiel-Sosa JF
Rev Neurol; 2007 Jan 1-15; 44(1):18-22. PubMed ID: 17199225
[TBL] [Abstract][Full Text] [Related]
12. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Goto Y; Tsugane K; Tanabe Y; Nonaka I; Horai S
Biochem Biophys Res Commun; 1994 Aug; 202(3):1624-30. PubMed ID: 7520241
[TBL] [Abstract][Full Text] [Related]
13. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.
Kawarai T; Kawakami H; Kozuka K; Izumi Y; Matsuyama Z; Watanabe C; Kohriyama T; Nakamura S
Neurology; 1997 Aug; 49(2):598-600. PubMed ID: 9270605
[TBL] [Abstract][Full Text] [Related]
14. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
Goto Y
Nihon Rinsho; 1993 Sep; 51(9):2373-8. PubMed ID: 8411715
[TBL] [Abstract][Full Text] [Related]
15. [Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
Coelho-Miranda L; Playan A; Artuch R; Vilaseca MA; Colomer J; Briones P; Coll-Cantí J; Conill J; Sans A; López de Munain A; Solano A; Alcaine MJ; Montoya J; Pineda M
Rev Neurol; 2000 Nov 1-15; 31(9):804-11. PubMed ID: 11127079
[TBL] [Abstract][Full Text] [Related]
16. Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.
Onishi H; Hanihara T; Sugiyama N; Kawanishi C; Iseki E; Maruyama Y; Yamada Y; Kosaka K; Yagishita S; Sekihara H; Satoh S
J Med Genet; 1998 Mar; 35(3):255-7. PubMed ID: 9541116
[TBL] [Abstract][Full Text] [Related]
17. Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation.
Yorifuji T; Kawai M; Momoi T; Sasaki H; Furusho K; Muroi J; Shimizu K; Takahashi Y; Matsumura M; Nambu M; Okuno T
J Med Genet; 1996 Jul; 33(7):621-2. PubMed ID: 8818955
[TBL] [Abstract][Full Text] [Related]
18. [Molecular biology of mitochondrial DNA and mutations in mitochondrial cytopathy].
Ito T
Nihon Rinsho; 1993 Jun; 51(6):1425-8. PubMed ID: 8320824
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
Hsieh RH; Li JY; Pang CY; Wei YH
J Biomed Sci; 2001; 8(4):328-35. PubMed ID: 11455195
[TBL] [Abstract][Full Text] [Related]
20. The phenotypic spectrum of fifty Czech m.3243A>G carriers.
Dvorakova V; Kolarova H; Magner M; Tesarova M; Hansikova H; Zeman J; Honzik T
Mol Genet Metab; 2016 Aug; 118(4):288-95. PubMed ID: 27296531
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
