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Journal Abstract Search

316 related items for PubMed ID: 9299505

  • 1.
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  • 2. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
    Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
    Neuromuscul Disord; 2008 Jul; 18(7):553-6. PubMed ID: 18590963
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  • 4. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
    Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG.
    Ann Neurol; 2003 Jan; 53(1):128-32. PubMed ID: 12509858
    [Abstract] [Full Text] [Related]

  • 5. ["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data].
    Laforêt P, Ziegler F, Sternberg D, Rouche A, Frachon P, Fardeau M, Eymard B, Lombès A.
    Rev Neurol (Paris); 2000 Dec; 156(12):1136-47. PubMed ID: 11139730
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  • 6. MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
    Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA.
    Biochem Biophys Res Commun; 2010 Nov 12; 402(2):443-7. PubMed ID: 20965148
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  • 7. Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy.
    Kovalenko SA, Tanaka M, Yoneda M, Iakovlev AF, Ozawa T.
    Biochem Biophys Res Commun; 1996 May 15; 222(2):201-7. PubMed ID: 8670183
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  • 8. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
    Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.
    Arch Neurol; 2004 Feb 15; 61(2):269-72. PubMed ID: 14967777
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  • 9. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).
    Tzen CY, Thajeb P, Wu TY, Chen SC.
    Muscle Nerve; 2003 Nov 15; 28(5):575-81. PubMed ID: 14571459
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  • 10. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
    Delgado-Sánchez R, Zárate-Moysen A, Monsalvo-Reyes A, Herrero MD, Ruiz-Pesini E, López-Pérez M, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2003 Nov 15; 44(1):18-22. PubMed ID: 17199225
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  • 11. Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
    Guo Y, Guo Z, Chen L, Zhang J, Wang W, Liu X, Ren H, Gao S.
    Chin Med J (Engl); 1997 Nov 15; 110(11):851-5. PubMed ID: 9772417
    [Abstract] [Full Text] [Related]

  • 12. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.
    Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH.
    Acta Neurol Scand; 2006 May 15; 113(5):334-41. PubMed ID: 16629770
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  • 13. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.
    Du W, Li W, Chen G, Cao H, Tang H, Tang X, Jin Q, Sun Z, Zhao H, Zhou W, He S, Lv Y, Zhao J, Zhang X.
    Biosens Bioelectron; 2009 Apr 15; 24(8):2371-6. PubMed ID: 19155171
    [Abstract] [Full Text] [Related]

  • 14. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
    Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM.
    Ann Neurol; 1996 Sep 15; 40(3):459-62. PubMed ID: 8797538
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  • 15. High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
    Cevoli S, Pallotti F, La Morgia C, Valentino ML, Pierangeli G, Cortelli P, Baruzzi A, Montagna P, Carelli V.
    Cephalalgia; 2010 Aug 15; 30(8):919-27. PubMed ID: 20656703
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  • 16. Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.
    Marotta R, Reardon K, McKelvie PA, Chiotis M, Chin J, Cook M, Collins SJ.
    J Clin Neurosci; 2009 Sep 15; 16(9):1223-5. PubMed ID: 19502062
    [Abstract] [Full Text] [Related]

  • 17. Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELAS.
    Takahashi K, Merchant SN, Miyazawa T, Yamaguchi T, McKenna MJ, Kouda H, Iino Y, Someya T, Tamagawa Y, Takiyama Y, Nakano I, Saito K, Boyer P, Kitamura K.
    Laryngoscope; 2003 Aug 15; 113(8):1362-8. PubMed ID: 12897560
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  • 18. An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.
    Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.
    Pediatr Neurol; 2006 Mar 15; 34(3):235-8. PubMed ID: 16504796
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  • 19. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.
    Campos Y, Lorenzo G, Martín MA, Torregrosa A, del Hoyo P, Rubio JC, García A, Arenas J.
    Neuromuscul Disord; 2000 Oct 15; 10(7):493-6. PubMed ID: 10996780
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  • 20. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.
    J Med Genet; 2007 Apr 15; 44(4):e74. PubMed ID: 17400793
    [Abstract] [Full Text] [Related]

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