186 related articles for article (PubMed ID: 15210164)
21. 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]
22. 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. PubMed ID: 17363246
[TBL] [Abstract][Full Text] [Related]
23. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.
Gambello MJ; Bai RK; Chen TJ; Dimachkie M; Wong LJ
Muscle Nerve; 2006 Oct; 34(4):437-43. PubMed ID: 16810691
[TBL] [Abstract][Full Text] [Related]
24. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
Auré K; Fayet G; Leroy JP; Lacène E; Romero NB; Lombès A
Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
[TBL] [Abstract][Full Text] [Related]
25. 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; 272(1-2):106-9. PubMed ID: 18603265
[TBL] [Abstract][Full Text] [Related]
26. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
Pulkes T; Liolitsa D; Eunson LH; Rose M; Nelson IP; Rahman S; Poulton J; Marchington DR; Landon DN; Debono AG; Morgan-Hughes JA; Hanna MG
Neuromuscul Disord; 2005 May; 15(5):364-71. PubMed ID: 15833431
[TBL] [Abstract][Full Text] [Related]
27. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
[TBL] [Abstract][Full Text] [Related]
28. [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
Li W; Han D; Yuan H; Wang Y; Cao J; Yang W; Jiang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec; 18(6):415-20. PubMed ID: 11774206
[TBL] [Abstract][Full Text] [Related]
29. Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.
Bruno C; Cassandrini D; Fattori F; Pedemonte M; Fiorillo C; Brigati G; Brisca G; Minetti C; Santorelli FM
Biochem Biophys Res Commun; 2011 Sep; 412(4):518-21. PubMed ID: 21741368
[TBL] [Abstract][Full Text] [Related]
30. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
Sanaker PS; Nakkestad HL; Downham E; Bindoff LA
Acta Neurol Scand; 2010 Feb; 121(2):109-13. PubMed ID: 19744136
[TBL] [Abstract][Full Text] [Related]
31. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
Stratilová L; Zeman J; Houst'ková H; Hansíková H; Konrádová V; Hůlková H; Elleder M; Růzicka E; Tyl D; Hrubá E; Houstĕk J
Cas Lek Cesk; 1999 Jun; 138(13):401-5. PubMed ID: 10566210
[TBL] [Abstract][Full Text] [Related]
32. Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
Filosto M; Mancuso M; Vives-Bauza C; Vilà MR; Shanske S; Hirano M; Andreu AL; DiMauro S
Ann Neurol; 2003 Oct; 54(4):524-6. PubMed ID: 14520667
[TBL] [Abstract][Full Text] [Related]
33. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
Verhoeven K; Ensink RJ; Tiranti V; Huygen PL; Johnson DF; Schatteman I; Van Laer L; Verstreken M; Van de Heyning P; Fischel-Ghodsian N; Zeviani M; Cremers CW; Willems PJ; Van Camp G
Eur J Hum Genet; 1999 Jan; 7(1):45-51. PubMed ID: 10094190
[TBL] [Abstract][Full Text] [Related]
34. [Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
Li W; Han D; Yuan H; Wang Y; Cao J; Yang W; Jiang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Feb; 19(1):64-7. PubMed ID: 11836692
[TBL] [Abstract][Full Text] [Related]
35. Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
Li X; Zhang LS; Fischel-Ghodsian N; Guan MX
Biochem Biophys Res Commun; 2005 Mar; 328(2):491-8. PubMed ID: 15694374
[TBL] [Abstract][Full Text] [Related]
36. 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. PubMed ID: 16644408
[TBL] [Abstract][Full Text] [Related]
37. 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. PubMed ID: 12207935
[TBL] [Abstract][Full Text] [Related]
38. 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; 327(3):675-8. PubMed ID: 15649400
[TBL] [Abstract][Full Text] [Related]
39. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood.
Houshmand M; Gardner A; Hällström T; Müntzing K; Oldfors A; Holme E
Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329
[TBL] [Abstract][Full Text] [Related]
40. Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.
Mancuso M; Ferraris S; Nishigaki Y; Azan G; Mauro A; Sammarco P; Krishna S; Tay SK; Bonilla E; Romansky SG; Hirano M; DiMauro S
J Neurol Sci; 2005 Jan; 228(1):93-7. PubMed ID: 15607216
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
