155 related articles for article (PubMed ID: 1962048)
1. MERRF: a model disease for understanding the principles of mitochondrial genetics.
Shoffner JM; Lott MT; Wallace DC
Rev Neurol (Paris); 1991; 147(6-7):431-5. PubMed ID: 1962048
[TBL] [Abstract][Full Text] [Related]
2. A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
Yoneda M; Tanno Y; Horai S; Ozawa T; Miyatake T; Tsuji S
Biochem Int; 1990 Aug; 21(5):789-96. PubMed ID: 2124116
[TBL] [Abstract][Full Text] [Related]
3. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
Noer AS; Sudoyo H; Lertrit P; Thyagarajan D; Utthanaphol P; Kapsa R; Byrne E; Marzuki S
Am J Hum Genet; 1991 Oct; 49(4):715-22. PubMed ID: 1910259
[TBL] [Abstract][Full Text] [Related]
4. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.
Shoffner JM; Lott MT; Lezza AM; Seibel P; Ballinger SW; Wallace DC
Cell; 1990 Jun; 61(6):931-7. PubMed ID: 2112427
[TBL] [Abstract][Full Text] [Related]
5. Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease.
Yasukawa T; Suzuki T; Ishii N; Ohta S; Watanabe K
EMBO J; 2001 Sep; 20(17):4794-802. PubMed ID: 11532943
[TBL] [Abstract][Full Text] [Related]
6. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
Silvestri G; Moraes CT; Shanske S; Oh SJ; DiMauro S
Am J Hum Genet; 1992 Dec; 51(6):1213-7. PubMed ID: 1361099
[TBL] [Abstract][Full Text] [Related]
7. The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
Rossmanith W; Raffelsberger T; Roka J; Kornek B; Feucht M; Bittner RE
Ann Neurol; 2003 Dec; 54(6):820-3. PubMed ID: 14681892
[TBL] [Abstract][Full Text] [Related]
8. Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).
Seibel P; Degoul F; Bonne G; Romero N; François D; Paturneau-Jouas M; Ziegler F; Eymard B; Fardeau M; Marsac C
J Neurol Sci; 1991 Oct; 105(2):217-24. PubMed ID: 1661776
[TBL] [Abstract][Full Text] [Related]
9. [Recent advances in genetics of epilepsy. Genetic of mitochondrial epilepsy].
Montoya J; Playán A; Alcaine MJ; Solano A; Fernández-Silva P; Enríquez JA
Rev Neurol; 2000 Feb 16-29; 30(4):330-2. PubMed ID: 10789142
[TBL] [Abstract][Full Text] [Related]
10. Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
Zeviani M; Amati P; Bresolin N; Antozzi C; Piccolo G; Toscano A; DiDonato S
Am J Hum Genet; 1991 Feb; 48(2):203-11. PubMed ID: 1899320
[TBL] [Abstract][Full Text] [Related]
11. Maternally inherited mitochondrial myopathy and myoclonic epilepsy.
Rosing HS; Hopkins LC; Wallace DC; Epstein CM; Weidenheim K
Ann Neurol; 1985 Mar; 17(3):228-37. PubMed ID: 3922281
[TBL] [Abstract][Full Text] [Related]
12. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)].
Tanno Y; Yoneda M; Tanaka K; Tsuji S
Nihon Rinsho; 1993 Sep; 51(9):2379-85. PubMed ID: 8411716
[TBL] [Abstract][Full Text] [Related]
13. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.
Kolesnikova OA; Entelis NS; Jacquin-Becker C; Goltzene F; Chrzanowska-Lightowlers ZM; Lightowlers RN; Martin RP; Tarassov I
Hum Mol Genet; 2004 Oct; 13(20):2519-34. PubMed ID: 15317755
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA.
Graf WD; Sumi SM; Copass MK; Ojemann LM; Longstreth WT; Shanske S; Lombes A; DiMauro S
Ann Neurol; 1993 Jun; 33(6):640-5. PubMed ID: 8388680
[TBL] [Abstract][Full Text] [Related]
15. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
Moraes CT; Ciacci F; Bonilla E; Jansen C; Hirano M; Rao N; Lovelace RE; Rowland LP; Schon EA; DiMauro S
J Clin Invest; 1993 Dec; 92(6):2906-15. PubMed ID: 8254046
[TBL] [Abstract][Full Text] [Related]
16. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.
Du W; Li W; Chen G; Cao H; Tang H; Tang X; Jin Q; Sun Z; Zhao H; Zhou W; He S; Lv Y; Zhao J; Zhang X
Biosens Bioelectron; 2009 Apr; 24(8):2371-6. PubMed ID: 19155171
[TBL] [Abstract][Full Text] [Related]
17. Simple detection of tRNA(Lys) mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with a mismatched primer.
Yoneda M; Tanno Y; Nonaka I; Miyatake T; Tsuji S
Neurology; 1991 Nov; 41(11):1838-40. PubMed ID: 1682854
[TBL] [Abstract][Full Text] [Related]
18. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
Larsson NG; Tulinius MH; Holme E; Oldfors A; Andersen O; Wahlström J; Aasly J
Am J Hum Genet; 1992 Dec; 51(6):1201-12. PubMed ID: 1463006
[TBL] [Abstract][Full Text] [Related]
19. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
Zeviani M; Muntoni F; Savarese N; Serra G; Tiranti V; Carrara F; Mariotti C; DiDonato S
Eur J Hum Genet; 1993; 1(1):80-7. PubMed ID: 8069654
[TBL] [Abstract][Full Text] [Related]
20. Myoclonic epilepsy with ragged-red fibers without increased lactate levels.
Kimura S; Ozasa S; Nakamura K; Nomura K; Kosuge H
Pediatr Neurol; 2009 Jul; 41(1):46-8. PubMed ID: 19520275
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
