These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

289 related articles for article (PubMed ID: 25447692)

  • 1. A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.
    Lehmann D; Schubert K; Joshi PR; Baty K; Blakely EL; Zierz S; Taylor RW; Deschauer M
    Neuromuscul Disord; 2015 Jan; 25(1):81-4. PubMed ID: 25447692
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
    Lehmann D; Schubert K; Joshi PR; Hardy SA; Tuppen HA; Baty K; Blakely EL; Bamberg C; Zierz S; Deschauer M; Taylor RW
    Eur J Hum Genet; 2015 Dec; 23(12):1735-8. PubMed ID: 25873012
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
    Tuppen HA; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale JE; Olpin SE; Treacy EP; McFarland R; Santorelli FM; Taylor RW
    J Med Genet; 2008 Jan; 45(1):55-61. PubMed ID: 18178636
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
    Tuppen HA; Naess K; Kennaway NG; Al-Dosary M; Lesko N; Yarham JW; Bruhn H; Wibom R; Nennesmo I; Weleber RG; Blakely EL; Taylor RW; McFarland R
    Eur J Hum Genet; 2012 Aug; 20(8):897-904. PubMed ID: 22378285
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function.
    Fayet G; Jansson M; Sternberg D; Moslemi AR; Blondy P; Lombès A; Fardeau M; Oldfors A
    Neuromuscul Disord; 2002 Jun; 12(5):484-93. PubMed ID: 12031622
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.
    Seneca S; Goemans N; Van Coster R; Givron P; Reybrouck T; Sciot R; Meulemans A; Smet J; Van Hove JL
    Am J Med Genet A; 2005 Aug; 137(2):170-5. PubMed ID: 16059939
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA
    Gill JS; Hardy SA; Blakely EL; Hopton S; Nemeth AH; Fratter C; Poulton J; Taylor RW; Downes SM
    Br J Ophthalmol; 2017 Sep; 101(9):1298-1302. PubMed ID: 28729369
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
    Blakely EL; Yarham JW; Alston CL; Craig K; Poulton J; Brierley C; Park SM; Dean A; Xuereb JH; Anderson KN; Compston A; Allen C; Sharif S; Enevoldson P; Wilson M; Hammans SR; Turnbull DM; McFarland R; Taylor RW
    Hum Mutat; 2013 Sep; 34(9):1260-8. PubMed ID: 23696415
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
    Kytövuori L; Kärppä M; Tuominen H; Uusimaa J; Saari M; Hinttala R; Majamaa K
    BMC Neurol; 2017 May; 17(1):96. PubMed ID: 28521807
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
    Sternberg D; Chatzoglou E; Laforêt P; Fayet G; Jardel C; Blondy P; Fardeau M; Amselem S; Eymard B; Lombès A
    Brain; 2001 May; 124(Pt 5):984-94. PubMed ID: 11335700
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 33(17):5647-58. PubMed ID: 16199753
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.
    Moslemi AR; Lindberg C; Toft J; Holme E; Kollberg G; Oldfors A
    Neuromuscul Disord; 2004 Jan; 14(1):46-50. PubMed ID: 14659412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 25034047
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA
    Joshi PR; Baty K; Hopton S; Cordts I; Falkous G; Schoser B; Blakely EL; Taylor RW; Deschauer M
    Neuromuscul Disord; 2020 Apr; 30(4):346-350. PubMed ID: 32305257
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
    Zsurka G; Hampel KG; Nelson I; Jardel C; Mirandola SR; Sassen R; Kornblum C; Marcorelles P; Lavoué S; Lombès A; Kunz WS
    Neurology; 2010 Feb; 74(6):507-12. PubMed ID: 20142618
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mitochondrial tRNA cleavage by tRNA-targeting ribonuclease causes mitochondrial dysfunction observed in mitochondrial disease.
    Ogawa T; Shimizu A; Takahashi K; Hidaka M; Masaki H
    Biochem Biophys Res Commun; 2014 Aug; 451(1):131-6. PubMed ID: 25065742
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.
    Wang M; Peng Y; Zheng J; Zheng B; Jin X; Liu H; Wang Y; Tang X; Huang T; Jiang P; Guan MX
    Nucleic Acids Res; 2016 Dec; 44(22):10974-10985. PubMed ID: 27536005
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
    Swalwell H; Blakely EL; Sutton R; Tonska K; Elstner M; He L; Taivassalo T; Burns DK; Turnbull DM; Haller RG; Davidson MM; Taylor RW
    Eur J Hum Genet; 2008 Oct; 16(10):1265-74. PubMed ID: 18398437
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
    Taylor RW; Schaefer AM; McDonnell MT; Petty RK; Thomas AM; Blakely EL; Hayes CM; McFarland R; Turnbull DM
    Neurology; 2004 Apr; 62(8):1420-3. PubMed ID: 15111688
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.