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Items: 1 to 20 of 824

1.

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Kornblum C, Zsurka G, Wiesner RJ, Schröder R, Kunz WS.

Biosci Rep. 2008 Apr;28(2):89-96. doi: 10.1042/BSR20080004.

PMID:
18384291
3.

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
4.

Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia.

Kiyomoto BH, Tengan CH, Moraes CT, Oliveira AS, Gabbai AA.

J Neurol Sci. 1997 Nov 25;152(2):160-5.

PMID:
9415537
5.

A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia.

Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A.

Biochem Biophys Res Commun. 2005 Feb 18;327(3):675-8.

PMID:
15649400
6.

Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.

Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M.

Neuromuscul Disord. 1995 Sep;5(5):399-413.

PMID:
7496174
7.

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.

Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM.

J Am Coll Cardiol. 2003 May 21;41(10):1786-96.

8.

Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)

Hattori Y, Goto Y, Sakuta R, Nonaka I, Mizuno Y, Horai S.

J Neurol Sci. 1994 Aug;125(1):50-5.

PMID:
7525879
9.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A.

Brain. 2001 May;124(Pt 5):984-94.

10.

Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy.

Houshmand M, Larsson NG, Holme E, Oldfors A, Tulinius MH, Andersen O.

Biochim Biophys Acta. 1994 Apr 12;1226(1):49-55.

PMID:
8155739
11.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9.

12.

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

Cardaioli E, Da Pozzo P, Malfatti E, Gallus GN, Rubegni A, Malandrini A, Gaudiano C, Guidi L, Serni G, Berti G, Dotti MT, Federico A.

J Neurol Sci. 2008 Sep 15;272(1-2):106-9. doi: 10.1016/j.jns.2008.05.005. Epub 2008 Jul 7.

PMID:
18603265
13.

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

Brain. 1995 Jun;118 ( Pt 3):721-34.

PMID:
7600089
14.

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A.

Neuromuscul Disord. 2007 Oct;17(9-10):681-3. Epub 2007 Jul 5.

PMID:
17614276
15.

[Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].

Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Aug;20(4):273-8. Chinese.

PMID:
12903032
16.

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.

Aust N Z J Med. 1994 Apr;24(2):188-93.

PMID:
8042948
17.

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.

Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P.

Neuromuscul Disord. 2001 Jul;11(5):481-4.

PMID:
11404121
18.

Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia.

Chen Q, Li X, Wu L, Qi Y, Wu X.

Chin Med J (Engl). 1998 Jun;111(6):500-3.

PMID:
11245066
19.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

20.

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
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