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Journal Abstract Search

231 related items for PubMed ID: 8628477

  • 1. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation.
    Verma A, Moraes CT, Shebert RT, Bradley WG.
    Neurology; 1996 May; 46(5):1334-6. PubMed ID: 8628477
    [Abstract] [Full Text] [Related]

  • 2. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.
    Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J.
    Muscle Nerve; 1996 Feb; 19(2):187-90. PubMed ID: 8559168
    [Abstract] [Full Text] [Related]

  • 3. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
    Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S.
    Eur J Hum Genet; 1993 Feb; 1(1):80-7. PubMed ID: 8069654
    [Abstract] [Full Text] [Related]

  • 4. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.
    Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G.
    J Neurol Neurosurg Psychiatry; 1996 Jul; 61(1):47-51. PubMed ID: 8676159
    [Abstract] [Full Text] [Related]

  • 5. MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
    Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H.
    J Med Genet; 2010 Oct; 47(10):659-64. PubMed ID: 20610441
    [Abstract] [Full Text] [Related]

  • 6. Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243.
    Suzuki Y, Goto Y, Taniyama M, Nonaka I, Murakami N, Hosokawa K, Asahina T, Atsumi Y, Matsuoka K.
    J Neurol Sci; 1997 Jan; 145(1):49-53. PubMed ID: 9073028
    [Abstract] [Full Text] [Related]

  • 7. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
    Mongini T, Doriguzzi C, Chiadò-Piat L, Silvestri G, Servidei S, Palmucci L.
    Clin Neuropathol; 2002 Jan; 21(2):72-6. PubMed ID: 12005255
    [Abstract] [Full Text] [Related]

  • 8. MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
    Liu K, Zhao H, Ji K, Yan C.
    Metab Brain Dis; 2014 Mar; 29(1):139-44. PubMed ID: 24338029
    [Abstract] [Full Text] [Related]

  • 9. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.
    Campos Y, Garcia-Silva T, Barrionuevo CR, Cabello A, Muley R, Arenas J.
    Pediatr Neurol; 1995 Jul; 13(1):69-72. PubMed ID: 7575854
    [Abstract] [Full Text] [Related]

  • 10. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
    Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.
    Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089
    [Abstract] [Full Text] [Related]

  • 11. mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.
    Topaloğlu H, Seyrantepe V, Kandemir N, Akçören Z, Ozgüç M.
    Pediatr Neurol; 1998 May; 18(5):429-31. PubMed ID: 9650685
    [Abstract] [Full Text] [Related]

  • 12. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.
    Diabetes; 1994 Jun; 43(6):746-51. PubMed ID: 7910800
    [Abstract] [Full Text] [Related]

  • 13. Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
    Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E.
    Aust N Z J Med; 1994 Apr; 24(2):188-93. PubMed ID: 8042948
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.
    Shoffner JM, Bialer MG, Pavlakis SG, Lott M, Kaufman A, Dixon J, Teichberg S, Wallace DC.
    Neurology; 1995 Feb; 45(2):286-92. PubMed ID: 7854527
    [Abstract] [Full Text] [Related]

  • 15. MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
    Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M.
    Muscle Nerve; 2011 Sep; 44(3):448-51. PubMed ID: 21996807
    [Abstract] [Full Text] [Related]

  • 16. Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.
    Brackmann F, Abicht A, Ahting U, Schröder R, Trollmann R.
    Eur J Pediatr; 2012 May; 171(5):859-62. PubMed ID: 22270878
    [Abstract] [Full Text] [Related]

  • 17. [Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].
    Stratilová L, Zeman J, Houst'ková H, Hansíková H, Konrádová V, Hůlková H, Elleder M, Růzicka E, Tyl D, Hrubá E, Houstĕk J.
    Cas Lek Cesk; 1999 Jun 28; 138(13):401-5. PubMed ID: 10566210
    [Abstract] [Full Text] [Related]

  • 18. The 3243 MELAS mutation in a pedigree with MERRF.
    Folgerø T, Torbergsen T, Oian P.
    Eur Neurol; 1995 Jun 28; 35(3):168-71. PubMed ID: 7628497
    [Abstract] [Full Text] [Related]

  • 19. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations.
    James AM, Wei YH, Pang CY, Murphy MP.
    Biochem J; 1996 Sep 01; 318 ( Pt 2)(Pt 2):401-7. PubMed ID: 8809026
    [Abstract] [Full Text] [Related]

  • 20. Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction.
    Fan H, Civalier C, Booker JK, Gulley ML, Prior TW, Farber RA.
    J Mol Diagn; 2006 May 01; 8(2):277-81. PubMed ID: 16645216
    [Abstract] [Full Text] [Related]

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