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Items: 1 to 20 of 251

1.

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.

van den Bosch BJ, de Coo IF, Hendrickx AT, Busch HF, de Jong G, Scholte HR, Smeets HJ.

Neuromuscul Disord. 2004 Oct;14(10):683-8.

PMID:
15351426
2.

Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH.

Arch Neurol. 2005 Dec;62(12):1920-3.

PMID:
16344351
4.

Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy.

Iwanaga R, Koga Y, Aramaki S, Kato S, Kato H.

Acta Neuropathol. 2001 Feb;101(2):179-84.

PMID:
11271374
5.

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

Kawarai T, Kawakami H, Kozuka K, Izumi Y, Matsuyama Z, Watanabe C, Kohriyama T, Nakamura S.

Neurology. 1997 Aug;49(2):598-600.

PMID:
9270605
6.

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.

Maeso E, Rueda A, Jiménez S, Del Hoyo P, Martín R, Cabello A, Mendoza LM, Arenas J, Campos Y.

Neuromuscul Disord. 2007 May;17(5):415-8. Epub 2007 Mar 23.

PMID:
17363246
7.

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.

Hadjigeorgiou GM, Kim SH, Fischbeck KH, Andreu AL, Berry GT, Bingham P, Shanske S, Bonilla E, DiMauro S.

J Neurol Sci. 1999 Apr 1;164(2):153-7.

PMID:
10402027
8.

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
9.

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.

10.

An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.

Higashikata T, Koyama J, Shimada H, Yazaki M, Owa M, Ikeda S.

Intern Med. 2001 May;40(5):405-8.

11.

Novel cluster of tRNALeu(UUR) mutations in a sporadic case of infantile myopathy restricted to muscle tissue.

Zanssen S, Molnar M, Buse G, Schröder JM.

Neuropediatrics. 2000 Apr;31(2):93-6.

PMID:
10832584
12.

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
13.

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S.

Hum Mutat. 1994;3(1):37-43.

PMID:
7906985
14.

Increased mitochondrial processing intermediates associated with three tRNA(Leu(UUR)) gene mutations.

Koga A, Koga Y, Akita Y, Fukiyama R, Ueki I, Yatsuga S, Matsuishi T.

Neuromuscul Disord. 2003 Mar;13(3):259-62.

PMID:
12609508
15.

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.

Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S.

J Neurol Sci. 2005 Jan 15;228(1):93-7.

PMID:
15607216
16.

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

Bruno C, Kirby DM, Koga Y, Garavaglia B, Duran G, Santorelli FM, Shield LK, Xia W, Shanske S, Goldstein JD, Iwanaga R, Akita Y, Carrara F, Davis A, Zeviani M, Thorburn DR, DiMauro S.

J Pediatr. 1999 Aug;135(2 Pt 1):197-202.

PMID:
10431114
17.

Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.

Kawakami Y, Sakuta R, Hashimoto K, Fujino O, Fujita T, Hida M, Horai S, Goto Y, Nonaka I.

Ann Neurol. 1994 Mar;35(3):370-3.

PMID:
8122892
18.

[A case of mitochondrial cardiomyopathy with heart failure, sick sinus syndrome and diabetes mellitus: mitochondrial DNA adenine-to-guanine transition at 3243 of mitochondrial tRNA(LEU)(UUR) gene].

Inamori M, Ishigami T, Takahashi N, Hibi K, Ashino K, Sumita S, Tamura K, Ochiai H, Umemura S, Ishii M, Tanaka S, Sekihara H, Inayama Y.

J Cardiol. 1997 Dec;30(6):341-7. Japanese.

PMID:
9436076
19.

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
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.

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