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290 related items for PubMed ID: 23290212
1. [Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation]. Zhao J, Zhao DH, Zhang W, Lü H, Yuan Y, Qi Y, Wang ZX. Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2835-8. PubMed ID: 23290212 [Abstract] [Full Text] [Related]
2. [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]
10. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Horvath R, Kley RA, Lochmüller H, Vorgerd M. Neurology; 2007 Jan 02; 68(1):56-8. PubMed ID: 17200493 [Abstract] [Full Text] [Related]
11. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. Orcesi S, Gorni K, Termine C, Uggetti C, Veggiotti P, Carrara F, Zeviani M, Berardinelli A, Lanzi G. J Child Neurol; 2006 Jan 02; 21(1):79-82. PubMed ID: 16551460 [Abstract] [Full Text] [Related]
12. Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Neurology; 1993 Jun 02; 43(6):1200-6. PubMed ID: 8170567 [Abstract] [Full Text] [Related]
13. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA. Graf WD, Sumi SM, Copass MK, Ojemann LM, Longstreth WT, Shanske S, Lombes A, DiMauro S. Ann Neurol; 1993 Jun 02; 33(6):640-5. PubMed ID: 8388680 [Abstract] [Full Text] [Related]
14. Mitochondrial diseases. Nonaka I. Curr Opin Neurol Neurosurg; 1992 Oct 02; 5(5):622-32. PubMed ID: 1392136 [Abstract] [Full Text] [Related]
15. Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies. Liu CS, Cheng WL, Lee CF, Ma YS, Lin CY, Huang CC, Wei YH. Acta Neurol Scand; 2006 May 02; 113(5):334-41. PubMed ID: 16629770 [Abstract] [Full Text] [Related]
16. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. Ann Neurol; 1993 Dec 02; 34(6):827-34. PubMed ID: 8250532 [Abstract] [Full Text] [Related]
17. Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. Huang CC, Kuo HC, Chu CC, Liou CW, Ma YS, Wei YH. J Biomed Sci; 2002 Dec 02; 9(6 Pt 1):527-33. PubMed ID: 12372990 [Abstract] [Full Text] [Related]
18. Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation. Chen CY, Chen HF, Gi SJ, Chi TH, Cheng CK, Hsu CF, Ma YS, Wei YH, Liu CS, Hsieh M. Mitochondrion; 2011 Sep 02; 11(5):739-49. PubMed ID: 21679777 [Abstract] [Full Text] [Related]
19. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. Larsson NG, Tulinius MH, Holme E, Oldfors A. Muscle Nerve Suppl; 1995 Sep 02; 3():S102-6. PubMed ID: 7603509 [Abstract] [Full Text] [Related]
20. The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation. Chen HF, Chen CY, Lin TH, Huang ZW, Chi TH, Ma YS, Wu SB, Wei YH, Hsieh M. FEBS J; 2012 Aug 02; 279(16):2987-3001. PubMed ID: 22742457 [Abstract] [Full Text] [Related] Page: [Next] [New Search]