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Results: 1 to 20 of 94

Similar articles for PubMed (Select 23072508)

1.

Spontaneous event of mitochondrial DNA mutation, A3243G, found in a family of identical twins.

Harihara S, Nakamura K, Takubo K, Takeuchi F.

Mitochondrial DNA. 2013 Apr;24(2):158-62. doi: 10.3109/19401736.2012.731402. Epub 2012 Oct 16.

PMID:
23072508
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.

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
4.

Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation.

Morovvati S, Nakagawa M, Sato Y, Hamada K, Higuchi I, Osame M.

Acta Neurol Scand. 2002 Aug;106(2):104-8.

PMID:
12100370
5.

Markedly different clinical features in 2 diabetes mellitus patients with extremely high tissue levels of the mitochondrial DNA A3243G mutation.

Harihara S, Nakamura K, Fujiwara M, Arai T, Sawabe M, Takeuchi F, Takubo K.

Gerontology. 2008;54(3):168-72. doi: 10.1159/000127415. Epub 2008 Apr 16.

6.

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

Hotta O, Inoue CN, Miyabayashi S, Furuta T, Takeuchi A, Taguma Y.

Kidney Int. 2001 Apr;59(4):1236-43.

7.

De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy.

Biousse V, Brown MD, Newman NJ, Allen JC, Rosenfeld J, Meola G, Wallace DC.

Neurology. 1997 Oct;49(4):1136-8.

PMID:
9339703
8.

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies.

Huang CC, Kuo HC, Chu CC, Liou CW, Ma YS, Wei YH.

J Biomed Sci. 2002;9(6 Pt 1):527-33.

PMID:
12372990
9.

Low antioxidant content and mutation load in mitochondrial DNA A3243G mutation-related diabetes mellitus.

Liou CW, Huang CC, Lee CF, Lin TK, Wei YH.

J Formos Med Assoc. 2003 Aug;102(8):527-33.

PMID:
14569316
10.

Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function.

de Andrade PB, Rubi B, Frigerio F, van den Ouweland JM, Maassen JA, Maechler P.

Diabetologia. 2006 Aug;49(8):1816-26. Epub 2006 May 31.

PMID:
16736129
11.
12.

A follow-up study in a Taiwanese family with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome.

Li JY, Hsieh RH, Peng NJ, Lai PH, Lee CF, Lo YK, Wei YH.

J Formos Med Assoc. 2007 Jul;106(7):528-36.

PMID:
17660142
13.

The mitochondrial DNA A3243G mutation in Werner's syndrome.

Takeuchi F, Harihara S, Nakamura K, Takubo K, Kanamori M, Goto M.

Exp Gerontol. 2003 Mar;38(3):339-42.

PMID:
12581800
14.

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M.

J Neurol. 1995 May;242(5):304-12.

PMID:
7643139
16.

Mitochondrial DNA abnormalities and autistic spectrum disorders.

Pons R, Andreu AL, Checcarelli N, VilĂ  MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S.

J Pediatr. 2004 Jan;144(1):81-5.

PMID:
14722523
17.

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy.

Lodi R, Rajagopalan B, Blamire AM, Crilley JG, Styles P, Chinnery PF.

Biochim Biophys Acta. 2004 Jul 9;1657(2-3):146-50.

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Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC.

Am J Med Genet A. 2004 Oct 1;130A(2):134-7.

PMID:
15372523
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