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Results: 1 to 20 of 161

1.

Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

Hao H, Bonilla E, Manfredi G, DiMauro S, Moraes CT.

Am J Hum Genet. 1995 May;56(5):1017-25.

PMID:
7726154
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, Harding AE.

Am J Hum Genet. 1995 May;56(5):1026-33.

PMID:
7726155
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.

Anitori R, Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG.

Mol Genet Metab. 2005 Feb;84(2):176-88. Epub 2004 Dec 15.

PMID:
15670724
[PubMed - indexed for MEDLINE]
7.

Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.

Damore ME, Speiser PW, Slonim AE, New MI, Shanske S, Xia W, Santorelli FM, DiMauro S.

J Pediatr Endocrinol Metab. 1999 Mar-Apr;12(2):207-13. Review.

PMID:
10392369
[PubMed - indexed for MEDLINE]
8.
9.

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW.

Am J Hum Genet. 1998 Jul;63(1):29-36.

PMID:
9634511
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].

Stratilová L, Zeman J, Hansíková H, Houstĕk J, Hermanská J, Dudková Z, Konrádová V, Hůlková H, Elleder M.

Cas Lek Cesk. 1998 Jul 13;137(14):430-3. Czech.

PMID:
9748738
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.

Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C.

Diabetes Care. 1997 Nov;20(11):1731-7.

PMID:
9353617
[PubMed - indexed for MEDLINE]
13.

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

Moraes CT, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N, Lovelace RE, Rowland LP, Schon EA, DiMauro S.

J Clin Invest. 1993 Dec;92(6):2906-15.

PMID:
8254046
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
8366098
[PubMed - indexed for MEDLINE]
Free Article
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.

Diabetes. 1994 Jun;43(6):746-51.

PMID:
7910800
[PubMed - indexed for MEDLINE]
18.

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.

Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A.

Brain. 2006 May;129(Pt 5):1249-59. Epub 2006 Mar 14.

PMID:
16537564
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y.

Biochem Biophys Res Commun. 1996 Aug 5;225(1):180-5.

PMID:
8769114
[PubMed - indexed for MEDLINE]
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