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Journal Abstract Search


193 related items for PubMed ID: 18206799

  • 1. Clinical and genetic features in a MELAS child with a 3271T>C mutation.
    Chou HF, Liang WC, Zhang Q, Goto Y, Jong YJ.
    Pediatr Neurol; 2008 Feb; 38(2):143-6. PubMed ID: 18206799
    [Abstract] [Full Text] [Related]

  • 2. 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; 16(9):1223-5. PubMed ID: 19502062
    [Abstract] [Full Text] [Related]

  • 3. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.
    Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.
    Zhonghua Yi Xue Za Zhi (Taipei); 2000 Jan; 63(1):71-6. PubMed ID: 10645055
    [Abstract] [Full Text] [Related]

  • 4. ["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
    [Abstract] [Full Text] [Related]

  • 5. Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation.
    Degoul F, Diry M, Pou-Serradell A, Lloreta J, Marsac C.
    Ann Neurol; 1994 Mar; 35(3):365-70. PubMed ID: 8122891
    [Abstract] [Full Text] [Related]

  • 6. Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
    Tay SH, Nordli DR, Bonilla E, Null E, Monaco S, Hirano M, DiMauro S.
    Arch Neurol; 2006 Feb; 63(2):281-3. PubMed ID: 16476819
    [Abstract] [Full Text] [Related]

  • 7. A juvenile case of MELAS with T3271C mitochondrial DNA mutation.
    Stenqvist L, Paetau A, Valanne L, Suomalainen A, Pihko H.
    Pediatr Res; 2005 Aug; 58(2):258-62. PubMed ID: 16006433
    [Abstract] [Full Text] [Related]

  • 8. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
    Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S.
    Biochem Biophys Res Commun; 1997 Sep 18; 238(2):326-8. PubMed ID: 9299505
    [Abstract] [Full Text] [Related]

  • 9. Rapid and noninvasive screening of patients with mitochondrial myopathy.
    Kotsimbos N, Jean-Francois MJ, Huizing M, Kapsa RM, Lertrit P, Siregar NC, Marzuki S, Sue C, Byrne E.
    Hum Mutat; 1994 Sep 18; 4(2):132-5. PubMed ID: 7981717
    [Abstract] [Full Text] [Related]

  • 10. Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.
    Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y.
    Mitochondrion; 2009 Apr 18; 9(2):115-22. PubMed ID: 19460299
    [Abstract] [Full Text] [Related]

  • 11. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
    Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP.
    Ann Neurol; 2008 Apr 18; 63(4):473-81. PubMed ID: 18306232
    [Abstract] [Full Text] [Related]

  • 12. A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy.
    Wong LJ, Wladyka C, Mardach-Verdon R.
    Muscle Nerve; 2004 Jul 18; 30(1):118-22. PubMed ID: 15221888
    [Abstract] [Full Text] [Related]

  • 13. Quantitative cellular level analysis of mitochondrial DNA 3243A > G mutations in individual tissues from the archival temporal bones of a MELAS patient.
    Koda H, Kimura Y, Ishige I, Eishi Y, Iino Y, Kitamura K.
    Acta Otolaryngol; 2010 Mar 18; 130(3):344-50. PubMed ID: 19685357
    [Abstract] [Full Text] [Related]

  • 14. 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 18; 34(3):235-8. PubMed ID: 16504796
    [Abstract] [Full Text] [Related]

  • 15. 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 18; 113(8):1362-8. PubMed ID: 12897560
    [Abstract] [Full Text] [Related]

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  • 18. Auditory symptoms: a critical clue for diagnosis of MELAS.
    Tawankanjanachot I, Channarong NS, Phanthumchinda K.
    J Med Assoc Thai; 2005 Nov 18; 88(11):1715-20. PubMed ID: 16471125
    [Abstract] [Full Text] [Related]

  • 19. Wolff-Parkinson-White syndrome in Patients With MELAS.
    Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC.
    Arch Neurol; 2007 Nov 18; 64(11):1625-7. PubMed ID: 17998445
    [Abstract] [Full Text] [Related]

  • 20. Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
    Kärppä M, Mahjneh I, Karttunen A, Tolonen U, Majamaa K.
    J Neurol; 2004 May 18; 251(5):556-63. PubMed ID: 15164188
    [Abstract] [Full Text] [Related]


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