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Items: 1 to 20 of 96

1.

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.

2.

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
3.

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.

4.

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
5.

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
6.

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
7.
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
9.

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
10.

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
11.

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.

Limongelli A, Schaefer J, Jackson S, Invernizzi F, Kirino Y, Suzuki T, Reichmann H, Zeviani M.

J Med Genet. 2004 May;41(5):342-9.

12.

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
13.

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
14.

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
15.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

16.

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW.

Muscle Nerve. 2005 Jul;32(1):104-7.

PMID:
15795893
17.

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
18.

A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

Möllers M, Maniura-Weber K, Kiseljakovic E, Bust M, Hayrapetyan A, Jaksch M, Helm M, Wiesner RJ, von Kleist-Retzow JC.

Nucleic Acids Res. 2005 Sep 30;33(17):5647-58. Print 2005.

19.

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
20.

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

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