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 *

161 related articles for article (PubMed ID: 20884012)

  • 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; 300(1-2):187-90. PubMed ID: 20884012
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 243(1):47-51. PubMed ID: 9473477
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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. PubMed ID: 17614276
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 18384291
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 20813205
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation.
    Wolf J; Obermaier-Kusser B; Jacobs M; Milles C; Mörl M; von Pein HD; Grau AJ; Bauer MF
    J Neurol Sci; 2012 May; 316(1-2):108-11. PubMed ID: 22326363
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 220(3):623-7. PubMed ID: 8607814
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Molecular studies in Cuban patients with progressive external ophthalmoplegia].
    Rodríguez-Hernández M; Hirano M; Arrieta T; Lestayo Z; Estrada R; Santiesteban R; Guerra-Badía R; Galarraga J; Gutierres J; Hechevarría E; Andreu A; Montoya J; DiMauro S
    Rev Neurol; 2000 Jun 1-15; 30(11):1001-5. PubMed ID: 10904941
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin.
    Sundaram C; Meena AK; Uppin MS; Govindaraj P; Vanniarajan A; Thangaraj K; Kaul S; Kekunnaya R; Murthy JM
    J Clin Neurosci; 2011 Apr; 18(4):535-8. PubMed ID: 21277779
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis.
    Slee M; Finkemeyer J; Krupa M; Raghupathi R; Gardner J; Blumbergs P; Agzarian M; Thyagarajan D
    J Clin Neurosci; 2011 Oct; 18(10):1318-24. PubMed ID: 21795050
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 7496174
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies].
    Laforêt P; Eymard B; Danan C; Chevallay M; Rouche A; Frachon P; Fardeau M; Lombès A
    Rev Neurol (Paris); 1997 Feb; 153(1):51-8. PubMed ID: 9296156
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study].
    Sahashi K; Ibi T; Yoneda M; Tanaka M; Ohno K
    Nihon Rinsho; 1997 Dec; 55(12):3265-9. PubMed ID: 9436448
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.