Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 205

1.

A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.

Vastagh I, Gál A, Reményi V, Semjén J, Lukács T, Valikovics A, Molnár MJ.

Ideggyogy Sz. 2011 Nov 30;64(11-12):399-403.

PMID:
22611618
2.

A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

Campos Y, Lorenzo G, Martín MA, Torregrosa A, del Hoyo P, Rubio JC, García A, Arenas J.

Neuromuscul Disord. 2000 Oct;10(7):493-6.

PMID:
10996780
3.

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. Erratum in: Eur J Hum Genet 1993;1(2):124.

PMID:
8069654
4.

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.

Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H.

J Med Genet. 2010 Oct;47(10):659-64. doi: 10.1136/jmg.2009.072058. Epub 2010 Jul 7.

PMID:
20610441
5.

High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome.

Liu CS, Cheng WL, Chen YY, Ma YS, Pang CY, Wei YH.

Ann N Y Acad Sci. 2005 May;1042:82-7.

PMID:
15965049
6.

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
7.

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.

8.

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.

9.

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, de la Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E.

Acta Neuropathol. 2003 Jan;105(1):69-75. Epub 2002 Sep 7.

PMID:
12471464
11.

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J.

Pediatr Neurol. 1995 Jul;13(1):69-72.

PMID:
7575854
12.

Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation.

Yasukawa T, Suzuki T, Ishii N, Ueda T, Ohta S, Watanabe K.

FEBS Lett. 2000 Feb 11;467(2-3):175-8.

13.

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.

Chinnery PF, Howell N, Lightowlers RN, Turnbull DM.

Brain. 1998 Oct;121 ( Pt 10):1889-94.

14.

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.

Muscle Nerve. 1996 Feb;19(2):187-90.

PMID:
8559168
15.

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.

Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R.

Eur J Pediatr. 2012 May;171(5):859-62. doi: 10.1007/s00431-011-1662-8. Epub 2012 Jan 25.

PMID:
22270878
16.

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
17.

Inheritance and expression of mitochondrial DNA point mutations.

Holme E, Tulinius MH, Larsson NG, Oldfors A.

Biochim Biophys Acta. 1995 May 24;1271(1):249-52.

PMID:
7599216
18.

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
19.

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.

Aust N Z J Med. 1994 Apr;24(2):188-93.

PMID:
8042948
Items per page

Supplemental Content

Write to the Help Desk