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Items: 1 to 20 of 255

1.

Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).

Tzen CY, Thajeb P, Wu TY, Chen SC.

Muscle Nerve. 2003 Nov;28(5):575-81.

PMID:
14571459
2.

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.

PMID:
10645055
3.

[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. Spanish.

5.

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G.

J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):47-51.

6.

Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.

Wang Z, Liu S, Yang Y, Yuan Y, Wu L, Qi Y, Chen Q.

Chin Med J (Engl). 2002 Jul;115(7):995-7.

PMID:
12150728
7.

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.

Suomalainen A, Majander A, Pihko H, Peltonen L, Syvänen AC.

Hum Mol Genet. 1993 May;2(5):525-34.

PMID:
8518790
8.

Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy.

Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T.

Biochem Biophys Res Commun. 1996 May 15;222(2):201-7.

PMID:
8670183
9.

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 15;24(8):2371-6. doi: 10.1016/j.bios.2008.12.008. Epub 2008 Dec 9.

PMID:
19155171
10.

Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.

Hao R, Yao YN, Zheng YG, Xu MG, Wang ED.

FEBS Lett. 2004 Dec 3;578(1-2):135-9.

14.

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, DiMauro S.

Neuromuscul Disord. 1995 Sep;5(5):391-8.

PMID:
7496173
15.

A new point mutation associated with mitochondrial encephalomyopathy.

Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J.

Hum Mol Genet. 1993 Dec;2(12):2081-7.

PMID:
8111377
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MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

Aharoni S, Traves TA, Melamed E, Cohen S, Silver EL.

J Neurol Sci. 2010 Sep 15;296(1-2):101-3. doi: 10.1016/j.jns.2010.06.029. Epub 2010 Jul 22.

PMID:
20655066

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