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Items: 1 to 20 of 112

1.

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Parsons T, Weimer L, Engelstad K, Linker A, Battista V, Wei Y, Hirano M, Dimauro S, De Vivo DC, Kaufmann P.

Arch Neurol. 2010 Aug;67(8):976-9. doi: 10.1001/archneurol.2010.174.

PMID:
20697048
2.

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
4.

Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.

Testai FD, Gorelick PB.

Arch Neurol. 2010 Jan;67(1):19-24. doi: 10.1001/archneurol.2009.309. Review.

PMID:
20065125
5.

Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation.

Costello DJ, Sims KB.

Neurology. 2009 Apr 7;72(14):1279-80. doi: 10.1212/01.wnl.0000345663.71421.1d. No abstract available.

PMID:
19349610
6.

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW.

Arch Neurol. 2009 Mar;66(3):399-402. doi: 10.1001/archneurol.2008.576.

PMID:
19273760
7.

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC.

Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526.

PMID:
19139304
8.

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

Sasarman F, Antonicka H, Shoubridge EA.

Hum Mol Genet. 2008 Dec 1;17(23):3697-707. doi: 10.1093/hmg/ddn265. Epub 2008 Aug 27.

9.

Pathogenic mitochondrial DNA mutations are common in the general population.

Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF.

Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004.

10.

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP.

Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328.

PMID:
18306232
11.

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood.

Rajasimha HK, Chinnery PF, Samuels DC.

Am J Hum Genet. 2008 Feb;82(2):333-43. doi: 10.1016/j.ajhg.2007.10.007.

12.

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.

PMID:
17823937
13.

The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons.

Janssen GM, Hensbergen PJ, van Bussel FJ, Balog CI, Maassen JA, Deelder AM, Raap AK.

Hum Mol Genet. 2007 Oct 15;16(20):2472-81. Epub 2007 Jul 25.

14.
15.

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

Jeppesen TD, Schwartz M, Frederiksen AL, Wibrand F, Olsen DB, Vissing J.

Arch Neurol. 2006 Dec;63(12):1701-6.

PMID:
17172609
16.

Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues.

Donovan LE, Severin NE.

J Clin Endocrinol Metab. 2006 Dec;91(12):4737-42. Epub 2006 Oct 3.

PMID:
17018649
17.

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

Pyle A, Taylor RW, Durham SE, Deschauer M, Schaefer AM, Samuels DC, Chinnery PF.

J Med Genet. 2007 Jan;44(1):69-74. Epub 2006 Sep 1.

18.

Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions.

Kisanuki YY, Gruis KL, Smith TL, Brown DL.

Arch Neurol. 2006 Aug;63(8):1200-1. No abstract available.

PMID:
16908753
19.

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

Kaufmann P, Pascual JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC.

Arch Neurol. 2006 May;63(5):746-8.

PMID:
16682545
20.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J.

Pediatr Res. 2006 Jan;59(1):21-6. Epub 2005 Dec 2.

PMID:
16326995
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