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Journal Abstract Search

218 related items for PubMed ID: 8797538

  • 1. 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; 40(3):459-62. PubMed ID: 8797538
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  • 2. ["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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  • 3. [MELAS (mitochondrial myopathy, encephalopathy lactic acidosis, and stroke-like episodes): clinical features and mitochondrial DNA mutations].
    Goto Y.
    Nihon Rinsho; 1993 Sep; 51(9):2373-8. PubMed ID: 8411715
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  • 4. 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
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  • 5. 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; 61(2):269-72. PubMed ID: 14967777
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  • 6. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
    Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E.
    Ital Heart J; 2004 Jun; 5(6):460-5. PubMed ID: 15320572
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  • 7. Mitochondrial DNA and RNA processing in MELAS.
    Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA.
    Ann Neurol; 1996 Aug; 40(2):172-80. PubMed ID: 8773598
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  • 9. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
    Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M.
    Eur J Hum Genet; 2001 Oct; 9(10):805-9. PubMed ID: 11781695
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  • 10. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies.
    Hess JF, Parisi MA, Bennett JL, Clayton DA.
    Nature; 1991 May 16; 351(6323):236-9. PubMed ID: 1755869
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  • 11. Diagnosis and management of MELAS.
    Thambisetty M, Newman NJ.
    Expert Rev Mol Diagn; 2004 Sep 16; 4(5):631-44. PubMed ID: 15347257
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  • 12. 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
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  • 16. Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.
    Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T.
    Proc Natl Acad Sci U S A; 2005 May 17; 102(20):7127-32. PubMed ID: 15870203
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  • 17. Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes).
    Bakker A, Barthélémy C, Frachon P, Chateau D, Sternberg D, Mazat JP, Lombès A.
    Pediatr Res; 2000 Aug 17; 48(2):143-50. PubMed ID: 10926287
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  • 18. 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 17; 9(2):115-22. PubMed ID: 19460299
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  • 19. 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
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  • 20. Detection of A3243G point mutation in mitochondrial DNA from 10 cases of MELAS.
    Wang Z, Liu S, Yang Y, Yuan Y, Wu L, Qi Y, Chen Q.
    Chin Med J (Engl); 2002 Jul 13; 115(7):995-7. PubMed ID: 12150728
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