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Journal Abstract Search

98 related items for PubMed ID: 11313776

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  • 4. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
    Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S.
    Hum Mutat; 1994; 3(1):37-43. PubMed ID: 7906985
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  • 5. 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 18; 327(3):675-8. PubMed ID: 15649400
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  • 6. 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. PubMed ID: 18603265
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  • 7. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy.
    Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, Dal Bello B, Pilotto A, Magrini G, Campana C, Fortina P, Gavazzi A, Narula J, Viganò M.
    Am J Pathol; 1998 Nov 15; 153(5):1501-10. PubMed ID: 9811342
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  • 9. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
    Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E.
    Hum Mutat; 1999 Nov 15; 13(3):203-9. PubMed ID: 10090475
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  • 10. A tRNA suppressor mutation in human mitochondria.
    El Meziane A, Lehtinen SK, Hance N, Nijtmans LG, Dunbar D, Holt IJ, Jacobs HT.
    Nat Genet; 1998 Apr 15; 18(4):350-3. PubMed ID: 9537417
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  • 13. Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy.
    Li YY, Maisch B, Rose ML, Hengstenberg C.
    J Mol Cell Cardiol; 1997 Oct 15; 29(10):2699-709. PubMed ID: 9344764
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  • 14. Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.
    Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F.
    Biochem Biophys Res Commun; 2007 Apr 20; 355(4):1031-7. PubMed ID: 17336924
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  • 15. Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.
    Filosto M, Tonin P, Scarpelli M, Savio C, Greco F, Mancuso M, Vattemi G, Govoni V, Rizzuto N, Tupler R, Tomelleri G.
    Neuromuscul Disord; 2008 Mar 20; 18(3):204-9. PubMed ID: 18343111
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  • 16. 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 20; 28(2):89-96. PubMed ID: 18384291
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  • 17. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
    Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E.
    Ital Heart J; 2004 Jun 20; 5(6):460-5. PubMed ID: 15320572
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  • 18. Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family.
    Ma L, Wang H, Chen J, Jin W, Liu L, Ban B, Shen J, Hua Z, Chai J.
    Chin Med J (Engl); 2000 Feb 20; 113(2):111-6. PubMed ID: 11775531
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  • 19. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
    Anitori R, Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG.
    Mol Genet Metab; 2005 Feb 20; 84(2):176-88. PubMed ID: 15670724
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  • 20. Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects.
    Bannwarth S, Procaccio V, Paquis-Flucklinger V.
    Hum Mutat; 2005 Jun 20; 25(6):575-82. PubMed ID: 15880407
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