Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 127

1.

A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia.

Souilem S, Chebel S, Mancuso M, Petrozzi L, Siciliano G, FrihAyed M, Hentati F, Amouri R.

J Neurol Sci. 2011 Jan 15;300(1-2):187-90. doi: 10.1016/j.jns.2010.08.065. Epub 2010 Sep 29.

PMID:
20884012
[PubMed - indexed for MEDLINE]
2.

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]
3.

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

Silvestri G, Servidei S, Rana M, Ricci E, Spinazzola A, Paris E, Tonali P.

Biochem Biophys Res Commun. 1996 Mar 27;220(3):623-7.

PMID:
8607814
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Jackson CB, Neuwirth C, Hahn D, Nuoffer JM, Frank S, Gallati S, Schaller A.

Br J Ophthalmol. 2014 Oct;98(10):1453-9. doi: 10.1136/bjophthalmol-2014-305300. Epub 2014 Jul 17.

PMID:
25034047
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
9.

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]
10.

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
11.

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.

Smits BW, Hol FA, van den Heuvel LP, Drost G, Rodenburg RJ, Ter Laak HJ, van Engelen BG.

J Neurol. 2007 Nov;254(11):1614-5. Epub 2007 Nov 2. No abstract available.

PMID:
17965958
[PubMed - indexed for MEDLINE]
12.

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

Souilem S, Kefi M, Mancuso M, Nesti C, Hentati F, Amouri R.

Diagn Mol Pathol. 2010 Mar;19(1):28-32. doi: 10.1097/PDM.0b013e3181b00f02.

PMID:
20186009
[PubMed - indexed for MEDLINE]
13.

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]
14.

Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.

Schaller A, Desetty R, Hahn D, Jackson CB, Nuoffer JM, Gallati S, Levinger L.

Mitochondrion. 2011 May;11(3):488-96. doi: 10.1016/j.mito.2011.01.005. Epub 2011 Feb 1.

PMID:
21292040
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
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.

External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation.

Hansrote S, Croul S, Selak M, Kalman B, Schwartzman RJ.

J Neurol Sci. 2002 May 15;197(1-2):63-7.

PMID:
11997068
[PubMed - indexed for MEDLINE]
18.

A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia.

Franceschina L, Salani S, Bordoni A, Sciacco M, Napoli L, Comi GP, Prelle A, Fortunato F, Hadjigeorgiou GM, Farina E, Bresolin N, D'Angelo MG, Scarlato G.

J Neurol. 1998 Nov;245(11):755-8. No abstract available.

PMID:
9808249
[PubMed - indexed for MEDLINE]
19.
20.

Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA.

Thajeb P, Ma YS, Tzen CY, Chuang CK, Wu TY, Chen SC, Wei YH.

Clin Neurol Neurosurg. 2006 Jun;108(4):407-10.

PMID:
16644408
[PubMed - indexed for MEDLINE]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk