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Results: 1 to 20 of 96

1.

The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia.

Gamba J, Kiyomoto BH, de Oliveira AS, Gabbai AA, Schmidt B, Tengan CH.

J Neurol Sci. 2012 Sep 15;320(1-2):131-5. doi: 10.1016/j.jns.2012.05.037. Epub 2012 Jun 27.

PMID:
22743145
[PubMed - indexed for MEDLINE]
2.

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R.

Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8.

PMID:
20813205
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
4.

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Spinazzola A, Carrara F, Mora M, Zeviani M.

Neuromuscul Disord. 2004 Dec;14(12):815-7.

PMID:
15564038
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
Free Article
6.
7.

A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.

Tiranti V, Carrara F, Confalonieri P, Mora M, Maffei RM, Lamantea E, Zeviani M.

Neuromuscul Disord. 1999 Mar;9(2):66-71.

PMID:
10220860
[PubMed - indexed for MEDLINE]
8.

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM.

Neurology. 1997 Oct;49(4):1166-8.

PMID:
9339712
[PubMed - indexed for MEDLINE]
9.
10.

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
[PubMed - indexed for MEDLINE]
11.

A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation.

Wolf J, Obermaier-Kusser B, Jacobs M, Milles C, Mörl M, von Pein HD, Grau AJ, Bauer MF.

J Neurol Sci. 2012 May 15;316(1-2):108-11. doi: 10.1016/j.jns.2012.01.013. Epub 2012 Feb 10.

PMID:
22326363
[PubMed - indexed for MEDLINE]
12.

A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).

Berardo A, Coku J, Kurt B, DiMauro S, Hirano M.

Neuromuscul Disord. 2010 Mar;20(3):204-6. doi: 10.1016/j.nmd.2010.01.006. Epub 2010 Feb 10.

PMID:
20149659
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.

Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA.

Hum Mol Genet. 1994 Mar;3(3):449-54.

PMID:
7912129
[PubMed - indexed for MEDLINE]
15.

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Greaves LC, Yu-Wai-Man P, Blakely EL, Krishnan KJ, Beadle NE, Kerin J, Barron MJ, Griffiths PG, Dickinson AJ, Turnbull DM, Taylor RW.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3340-6. doi: 10.1167/iovs.09-4659. Epub 2010 Feb 17.

PMID:
20164463
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.

Sotiriou E, Coku J, Tanji K, Huang HB, Hirano M, DiMauro S.

Neuromuscul Disord. 2009 Apr;19(4):297-9. doi: 10.1016/j.nmd.2009.01.014. Epub 2009 Mar 13.

PMID:
19285865
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW.

Muscle Nerve. 2009 Oct;40(4):648-51. doi: 10.1002/mus.21342.

PMID:
19618438
[PubMed - indexed for MEDLINE]
19.

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.

Arenas J, Campos Y, Bornstein B, Ribacoba R, Martín MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R.

Neurology. 1999 Jan 15;52(2):377-82.

PMID:
9932960
[PubMed - indexed for MEDLINE]
20.

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Kollberg G, Jansson M, Pérez-Bercoff A, Melberg A, Lindberg C, Holme E, Moslemi AR, Oldfors A.

Eur J Hum Genet. 2005 Apr;13(4):463-9.

PMID:
15702133
[PubMed - indexed for MEDLINE]
Free Article

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