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Journal Abstract Search
245 related items for PubMed ID: 17300999
1. Population prevalence of the MELAS A3243G mutation. Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, Sue CM. Mitochondrion; 2007 May; 7(3):230-3. PubMed ID: 17300999 [Abstract] [Full Text] [Related]
2. MELAS A3243G mitochondrial DNA mutation and age related maculopathy. Jones M, Mitchell P, Wang JJ, Sue C. Am J Ophthalmol; 2004 Dec; 138(6):1051-3. PubMed ID: 15629304 [Abstract] [Full Text] [Related]
3. Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA. Kärppä M, Herva R, Moslemi AR, Oldfors A, Kakko S, Majamaa K. Brain; 2005 Aug; 128(Pt 8):1861-9. PubMed ID: 15857931 [Abstract] [Full Text] [Related]
4. Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection. Marotta R, Reardon K, McKelvie PA, Chiotis M, Chin J, Cook M, Collins SJ. J Clin Neurosci; 2009 Sep; 16(9):1223-5. PubMed ID: 19502062 [Abstract] [Full Text] [Related]
5. Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K. Ann Neurol; 2007 Sep; 62(3):278-87. PubMed ID: 17823937 [Abstract] [Full Text] [Related]
6. Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. Moilanen JS, Majamaa K. Eur J Hum Genet; 2001 Jan; 9(1):59-62. PubMed ID: 11175302 [Abstract] [Full Text] [Related]
7. [Identification of an ideal noninvasive method to detect A3243G gene mutation in MELAS syndrome]. Ma YN, Fang F, Yang YL, Zhang Y, Wang ST, Xu YF, Pei P, Yuan Y, Bu DF, Qi Y. Zhonghua Yi Xue Za Zhi; 2008 Dec 16; 88(46):3250-3. PubMed ID: 19159547 [Abstract] [Full Text] [Related]
8. 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 16; 115(7):995-7. PubMed ID: 12150728 [Abstract] [Full Text] [Related]
9. Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G. Kärppä M, Mahjneh I, Karttunen A, Tolonen U, Majamaa K. J Neurol; 2004 May 16; 251(5):556-63. PubMed ID: 15164188 [Abstract] [Full Text] [Related]
10. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH. Acta Neurol Scand; 2006 May 16; 113(5):334-41. PubMed ID: 16629770 [Abstract] [Full Text] [Related]
11. Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y. Mitochondrion; 2009 Apr 16; 9(2):115-22. PubMed ID: 19460299 [Abstract] [Full Text] [Related]
12. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease. Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y. J Hum Genet; 2001 Apr 16; 46(6):330-4. PubMed ID: 11393536 [Abstract] [Full Text] [Related]
17. Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia. Munakata K, Iwamoto K, Bundo M, Kato T. Biol Psychiatry; 2005 Mar 01; 57(5):525-32. PubMed ID: 15737668 [Abstract] [Full Text] [Related]
18. Detection rates and phenotypic spectrum of m.3243A>G in the MT-TL1 gene: a molecular diagnostic laboratory perspective. Chin J, Marotta R, Chiotis M, Allan EH, Collins SJ. Mitochondrion; 2014 Jul 01; 17():34-41. PubMed ID: 24846800 [Abstract] [Full Text] [Related]