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5. 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. PubMed ID: 21292040 [TBL] [Abstract][Full Text] [Related]
6. 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; 243(1):47-51. PubMed ID: 9473477 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 20149659 [TBL] [Abstract][Full Text] [Related]
8. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment. Ronchi D; Sciacco M; Bordoni A; Raimondi M; Ripolone M; Fassone E; Di Fonzo A; Rizzuti M; Ciscato P; Cosi A; Servida M; Moggio M; Corti S; Bresolin N; Comi GP Eur J Hum Genet; 2012 Mar; 20(3):357-60. PubMed ID: 22189266 [TBL] [Abstract][Full Text] [Related]
9. 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; 320(1-2):131-5. PubMed ID: 22743145 [TBL] [Abstract][Full Text] [Related]
10. A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. Johnson MA; Turnbull DM; Dick DJ; Sherratt HS J Neurol Sci; 1983 Jul; 60(1):31-53. PubMed ID: 6308177 [TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 20186009 [TBL] [Abstract][Full Text] [Related]
12. 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; 300(1-2):187-90. PubMed ID: 20884012 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 15564038 [TBL] [Abstract][Full Text] [Related]
14. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. Maniura-Weber K; Taylor RW; Johnson MA; Chrzanowska-Lightowlers Z; Morris AA; Charlton CP; Turnbull DM; Bindoff LA Eur J Hum Genet; 2004 Jun; 12(6):509-12. PubMed ID: 15054399 [TBL] [Abstract][Full Text] [Related]
15. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Fu K; Hartlen R; Johns T; Genge A; Karpati G; Shoubridge EA Hum Mol Genet; 1996 Nov; 5(11):1835-40. PubMed ID: 8923013 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 9808249 [No Abstract] [Full Text] [Related]
17. 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. PubMed ID: 7912129 [TBL] [Abstract][Full Text] [Related]
18. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. Hellebrekers DMEI; Blakely EL; Hendrickx ATM; Hardy SA; Hopton S; Falkous G; de Coo IFM; Smeets HJM; van der Beek NME; Taylor RW Neuromuscul Disord; 2019 Sep; 29(9):693-697. PubMed ID: 31488384 [TBL] [Abstract][Full Text] [Related]
19. Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Lauber J; Marsac C; Kadenbach B; Seibel P Nucleic Acids Res; 1991 Apr; 19(7):1393-7. PubMed ID: 1709275 [TBL] [Abstract][Full Text] [Related]
20. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Moslemi AR; Melberg A; Holme E; Oldfors A Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]