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Journal Abstract Search

316 related items for PubMed ID: 9299505

  • 1. 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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  • 3. 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 18; 9(10):805-9. PubMed ID: 11781695
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  • 4. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
    Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG.
    Ann Neurol; 2003 Jan 18; 53(1):128-32. PubMed ID: 12509858
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  • 5. ["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 18; 156(12):1136-47. PubMed ID: 11139730
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  • 8. 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 18; 61(2):269-72. PubMed ID: 14967777
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  • 9. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g).
    Tzen CY, Thajeb P, Wu TY, Chen SC.
    Muscle Nerve; 2003 Nov 18; 28(5):575-81. PubMed ID: 14571459
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  • 17. 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
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  • 18. 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
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  • 19. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.
    Campos Y, Lorenzo G, Martín MA, Torregrosa A, del Hoyo P, Rubio JC, García A, Arenas J.
    Neuromuscul Disord; 2000 Oct 18; 10(7):493-6. PubMed ID: 10996780
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  • 20. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
    Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ.
    J Med Genet; 2007 Apr 18; 44(4):e74. PubMed ID: 17400793
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