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Results: 1 to 20 of 109

1.

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S.

Eur J Pediatr. 2008 Jul;167(7):771-6. Epub 2007 Sep 22.

PMID:
17891417
[PubMed - indexed for MEDLINE]
2.

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM.

Ann Neurol. 2004 Apr;55(4):478-84.

PMID:
15048886
[PubMed - indexed for MEDLINE]
3.

Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness.

Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C.

Biochim Biophys Acta. 2002 Dec 12;1588(3):210-6.

PMID:
12393175
[PubMed - indexed for MEDLINE]
Free Article
4.

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ.

Am J Med Genet A. 2006 Oct 15;140(20):2216-22.

PMID:
16955414
[PubMed - indexed for MEDLINE]
5.

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H.

Pediatrics. 2004 Oct;114(4):925-31.

PMID:
15466086
[PubMed - indexed for MEDLINE]
6.

Review: Metabolic cardiomyopathy and conduction system defects in children.

Gilbert-Barness E.

Ann Clin Lab Sci. 2004 Winter;34(1):15-34. Review.

PMID:
15038665
[PubMed - indexed for MEDLINE]
7.

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L.

Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23.

PMID:
17266923
[PubMed - indexed for MEDLINE]
8.

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

Meulemans A, Seneca S, Smet J, De Paepe B, Lissens W, Van Coster R, Debeer A, De Meirleir L, Jaeken J.

Eur J Paediatr Neurol. 2007 Jan;11(1):17-20. Epub 2006 Dec 11.

PMID:
17161635
[PubMed - indexed for MEDLINE]
9.

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ.

Am J Med Genet A. 2003 Dec 1;123A(2):172-8.

PMID:
14598342
[PubMed - indexed for MEDLINE]
10.

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

Mezghani N, Mkaouar-Rebai E, Mnif M, Charfi N, Rekik N, Youssef S, Abid M, Fakhfakh F.

J Diabetes Complications. 2010 Jul-Aug;24(4):270-7. doi: 10.1016/j.jdiacomp.2009.11.002. Epub 2010 Jan 4.

PMID:
20045353
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.

Neuromuscul Disord. 2006 Dec;16(12):874-7. Epub 2006 Oct 20.

PMID:
17056256
[PubMed - indexed for MEDLINE]
13.

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O.

Ann Neurol. 2008 Mar;63(3):405-8. doi: 10.1002/ana.21332.

PMID:
18306244
[PubMed - indexed for MEDLINE]
14.

A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.

Vallance HD, Jeven G, Wallace DC, Brown MD.

Pediatr Cardiol. 2004 Sep-Oct;25(5):538-40. Epub 2004 May 28.

PMID:
15164143
[PubMed - indexed for MEDLINE]
15.

Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation.

Tomari Y, Hino N, Nagaike T, Suzuki T, Ueda T.

J Biol Chem. 2003 May 9;278(19):16828-33. Epub 2003 Mar 5.

PMID:
12621050
[PubMed - indexed for MEDLINE]
Free Article
16.

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A.

Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.

PMID:
21549344
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Cardiomyopathy of unknown etiology: Barth syndrome unrecognized.

Sweeney RT, Davis GJ, Noonan JA.

Congenit Heart Dis. 2008 Nov-Dec;3(6):443-8. doi: 10.1111/j.1747-0803.2008.00226.x.

PMID:
19037987
[PubMed - indexed for MEDLINE]
18.

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

Nogueira C, Nunes J, Evangelista T, Fattori F, Tessa A, Pereira C, Santorelli FM, Vilarinho L.

Mitochondrion. 2007 Dec;7(6):396-8. Epub 2007 Aug 19.

PMID:
17897888
[PubMed - indexed for MEDLINE]
19.

Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene.

Akita Y, Koga Y, Iwanaga R, Wada N, Tsubone J, Fukuda S, Nakamura Y, Kato H.

Hum Mutat. 2000 Apr;15(4):382.

PMID:
10737988
[PubMed - indexed for MEDLINE]
20.

Disorders of mitochondrial protein synthesis.

Jacobs HT.

Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. Review.

PMID:
12928485
[PubMed - indexed for MEDLINE]
Free Article

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