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Items: 1 to 20 of 207

1.

Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.

Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZM, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA.

Neuromuscul Disord. 2004 Jul;14(7):417-20.

PMID:
15210164
2.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

Cardaioli E, Malfatti E, Da Pozzo P, Gallus GN, Carluccio MA, Rufa A, Volpi N, Dotti MT, Federico A.

J Neurol Sci. 2011 Apr 15;303(1-2):142-5. doi: 10.1016/j.jns.2010.12.020. Epub 2011 Jan 22.

PMID:
21257182
3.

A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.

Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM.

Neuromuscul Disord. 2002 Oct;12(7-8):659-664.

PMID:
12207935
4.

Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.

Müller T, Deschauer M, Neudecker S, Zierz S.

Acta Neuropathol. 2005 Oct;110(4):426-30. Epub 2005 Aug 25.

PMID:
16133542
5.

A mitochondrial tRNA anticodon swap associated with a muscle disease.

Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S.

Nat Genet. 1993 Jul;4(3):284-8.

PMID:
7689388
6.

A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop.

Dey R, Tengan CH, Morita MP, Kiyomoto BH, Moraes CT.

Neuromuscul Disord. 2000 Oct;10(7):488-92.

PMID:
10996779
7.

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL.

Am J Med Genet A. 2005 Aug 30;137(2):170-5.

PMID:
16059939
8.

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.

Moslemi AR, Lindberg C, Toft J, Holme E, Kollberg G, Oldfors A.

Neuromuscul Disord. 2004 Jan;14(1):46-50.

PMID:
14659412
9.
10.

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.

Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM.

Biochem Biophys Res Commun. 1998 Feb 4;243(1):47-51.

PMID:
9473477
12.

The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.

Toompuu M, Yasukawa T, Suzuki T, Hakkinen T, Spelbrink JN, Watanabe K, Jacobs HT.

J Biol Chem. 2002 Jun 21;277(25):22240-50. Epub 2002 Mar 27.

13.

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. Epub 2005 Apr 27.

PMID:
15857931
14.

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J.

Biochem Biophys Res Commun. 1995 Sep 5;214(1):86-93.

PMID:
7669057
16.

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease.

Kleinle S, Schneider V, Moosmann P, Brandner S, Krähenbühl S, Liechti-Gallati S.

Biochem Biophys Res Commun. 1998 Jun 9;247(1):112-5.

PMID:
9636664
17.

[Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy].

Zhang XA, Wu HC, Zhang BF, Yu W, Fan QS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):18-21. Chinese.

PMID:
15696472
18.

Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

Bindoff LA, Howell N, Poulton J, McCullough DA, Morten KJ, Lightowlers RN, Turnbull DM, Weber K.

J Biol Chem. 1993 Sep 15;268(26):19559-64.

19.

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, von Kleist-Retzow JC.

Nucleic Acids Res. 2005 Sep 30;33(17):5647-58. Print 2005.

20.

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

Kollberg G, Moslemi AR, Lindberg C, Holme E, Oldfors A.

J Neuropathol Exp Neurol. 2005 Feb;64(2):123-8.

PMID:
15751226

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