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Journal Abstract Search

133 related items for PubMed ID: 9427220

  • 1. Clinical, physiological, and histological features in a kindred with the T3271C melas mutation.
    Tarnopolsky MA, Maguire J, Myint T, Applegarth D, Robinson BH.
    Muscle Nerve; 1998 Jan; 21(1):25-33. PubMed ID: 9427220
    [Abstract] [Full Text] [Related]

  • 2. Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
    Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S.
    J Child Neurol; 2005 Feb; 20(2):142-6. PubMed ID: 15794182
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep 12; 51(9):2373-8. PubMed ID: 8411715
    [Abstract] [Full Text] [Related]

  • 5. Cell cycle of myocytes of cardiac and skeletal muscle in mitochondrial myopathy.
    Takeda A, Chiba S, Takaaki I, Tanamura A, Yamaguchi Y, Takeda N.
    Jpn Circ J; 1998 Sep 12; 62(9):695-9. PubMed ID: 9766710
    [Abstract] [Full Text] [Related]

  • 6. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.
    de Vries D, de Wijs I, Ruitenbeek W, Begeer J, Smit P, Bentlage H, van Oost B.
    J Neurol Sci; 1994 Jun 12; 124(1):77-82. PubMed ID: 7931425
    [Abstract] [Full Text] [Related]

  • 7. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report.
    Prayson RA, Wang N.
    Arch Pathol Lab Med; 1998 Nov 12; 122(11):978-81. PubMed ID: 9822126
    [Abstract] [Full Text] [Related]

  • 8. Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation.
    Bataillard M, Chatzoglou E, Rumbach L, Sternberg D, Tournade A, Laforêt P, Jardel C, Maisonobe T, Lombès A.
    Neurology; 2001 Feb 13; 56(3):405-7. PubMed ID: 11171912
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts.
    Hirano M, Pavlakis SG.
    J Child Neurol; 1994 Jan 13; 9(1):4-13. PubMed ID: 8151079
    [Abstract] [Full Text] [Related]

  • 10. Clinical features of MELAS and mitochondrial DNA mutations.
    Goto Y.
    Muscle Nerve Suppl; 1995 Jan 13; 3():S107-12. PubMed ID: 7603510
    [Abstract] [Full Text] [Related]

  • 11. ["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 13; 156(12):1136-47. PubMed ID: 11139730
    [Abstract] [Full Text] [Related]

  • 12. 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 13; 61(2):269-72. PubMed ID: 14967777
    [Abstract] [Full Text] [Related]

  • 13. Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.
    Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T.
    Pediatr Neurol; 2002 Nov 13; 27(5):397-400. PubMed ID: 12504210
    [Abstract] [Full Text] [Related]

  • 14. [Clinical, pathological and molecular biological characteristics of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode in children].
    Liu XL, Bao XH, Ma YN, Chang XZ, Qin J, Wu XR.
    Zhonghua Er Ke Za Zhi; 2013 Feb 13; 51(2):130-5. PubMed ID: 23527980
    [Abstract] [Full Text] [Related]

  • 15. 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 13; 63(4):473-81. PubMed ID: 18306232
    [Abstract] [Full Text] [Related]

  • 16. The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.
    Vilarinho L, Santorelli FM, Coelho I, Rodrigues L, Maia M, Barata I, Cabral P, Dionísio A, Costa A, Guimarães A, DiMauro S.
    J Neurol Sci; 1999 Mar 01; 163(2):168-74. PubMed ID: 10371079
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 35(3):365-70. PubMed ID: 8122891
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Investigation of common mitochondrial point mutations in Korea.
    Kwon SJ, Park SS, Kim JM, Ahn TB, Kim SH, Kim J, Lee SH, Ha CK, Ahn MY, Jeon BS.
    Ann N Y Acad Sci; 2004 Apr 15; 1011():339-44. PubMed ID: 15126311
    [Abstract] [Full Text] [Related]

  • 20. A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
    Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, Wachi E.
    Biochem Mol Biol Int; 1994 Aug 15; 33(6):1055-61. PubMed ID: 7804130
    [Abstract] [Full Text] [Related]

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