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Journal Abstract Search

143 related items for PubMed ID: 8723687

  • 1.
    ; . PubMed ID:
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  • 2. Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.
    Morten KJ, Poulton J, Sykes B.
    Hum Mol Genet; 1995 Sep; 4(9):1689-91. PubMed ID: 8541865
    [No Abstract] [Full Text] [Related]

  • 3. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S.
    Biochem Biophys Res Commun; 1994 Aug 15; 202(3):1624-30. PubMed ID: 7520241
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  • 4.
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  • 5. Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.
    Remes AM, Majamaa K, Herva R, Hassinen IE.
    Neurology; 1993 May 15; 43(5):1015-20. PubMed ID: 8492919
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  • 6. Are MELAS and diabetes mellitus caused solely by the same mutation at np 3243 of the mitochondrial gene?
    Odawara M, Yamashita K.
    Diabetologia; 1995 Dec 15; 38(12):1488-90. PubMed ID: 8786029
    [No Abstract] [Full Text] [Related]

  • 7. Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
    Suomalainen A, Majander A, Pihko H, Peltonen L, Syvänen AC.
    Hum Mol Genet; 1993 May 15; 2(5):525-34. PubMed ID: 8518790
    [Abstract] [Full Text] [Related]

  • 8. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.
    Koga Y, Davidson M, Schon EA, King MP.
    Nucleic Acids Res; 1993 Feb 11; 21(3):657-62. PubMed ID: 7680123
    [Abstract] [Full Text] [Related]

  • 9. 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 11; 18(7):553-6. PubMed ID: 18590963
    [Abstract] [Full Text] [Related]

  • 10. The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
    Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S.
    J Med Genet; 1997 Jul 11; 34(7):607-9. PubMed ID: 9222976
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  • 11.
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  • 12. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.
    Lin J, Zhao CB, Lu JH, Wang HJ, Zhu WH, Xi JY, Lu J, Luo SS, Ma D, Wang Y, Xiao BG, Lu CZ.
    Mitochondrial DNA; 2014 Feb 11; 25(1):56-62. PubMed ID: 23834081
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.
    Suzuki Y, Tsukuda K, Atsumi Y, Goto Y, Hosokawa K, Asahina T, Nonaka I, Matsuoka K, Oka Y.
    Diabetes Care; 1996 Nov 15; 19(11):1304-5. PubMed ID: 8908402
    [No Abstract] [Full Text] [Related]

  • 15. The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
    Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F.
    Biochem Biophys Res Commun; 2011 Jul 29; 411(2):247-52. PubMed ID: 21723259
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  • 17. [MERRF/MELAS overlap syndrome].
    Goto Y.
    Ryoikibetsu Shokogun Shirizu; 2001 Jul 29; (36):159. PubMed ID: 11596353
    [No Abstract] [Full Text] [Related]

  • 18. [MERRF/MELAS overlap syndrome].
    Goto Y.
    Nihon Rinsho; 2002 Apr 29; 60 Suppl 4():296-7. PubMed ID: 12013869
    [No Abstract] [Full Text] [Related]

  • 19. Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.
    Petruzzella V, Zoccolella S, Amati A, Torraco A, Lamberti P, Carnicella F, Serlenga L, Papa S.
    Clin Genet; 2004 Jan 29; 65(1):64-5. PubMed ID: 15032978
    [No Abstract] [Full Text] [Related]

  • 20. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.
    Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.
    J Hum Genet; 2001 Jan 29; 46(6):330-4. PubMed ID: 11393536
    [Abstract] [Full Text] [Related]

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