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Journal Abstract Search
198 related items for PubMed ID: 20976001
1. Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). Brinckmann A, Weiss C, Wilbert F, von Moers A, Zwirner A, Stoltenburg-Didinger G, Wilichowski E, Schuelke M. PLoS One; 2010 Oct 20; 5(10):e13513. PubMed ID: 20976001 [Abstract] [Full Text] [Related]
2. [Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation]. Hou Y, Zhao XT, Xie ZY, Yuan Y, Wang ZX. Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct 18; 52(5):851-855. PubMed ID: 33047718 [Abstract] [Full Text] [Related]
3. 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 18; 113(5):334-41. PubMed ID: 16629770 [Abstract] [Full Text] [Related]
4. Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome. Wu YT, Huang SC, Shiao YM, Syu WC, Wei YH, Hsu YC. Hear Res; 2023 Oct 18; 438():108876. PubMed ID: 37683310 [Abstract] [Full Text] [Related]
5. Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis. Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J. Hum Mol Genet; 2013 May 01; 22(9):1867-72. PubMed ID: 23390135 [Abstract] [Full Text] [Related]
9. [Molecular genetic analysis for myoclonus epilepsy associated with ragged-red fibers (MERRF)]. Tanno Y, Yoneda M, Tanaka K, Tsuji S. Nihon Rinsho; 1993 Sep 01; 51(9):2379-85. PubMed ID: 8411716 [Abstract] [Full Text] [Related]
10. Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S. Am J Hum Genet; 1991 Feb 01; 48(2):203-11. PubMed ID: 1899320 [Abstract] [Full Text] [Related]
11. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Mancuso M, Filosto M, Mootha VK, Rocchi A, Pistolesi S, Murri L, DiMauro S, Siciliano G. Neurology; 2004 Jun 08; 62(11):2119-21. PubMed ID: 15184630 [Abstract] [Full Text] [Related]
12. 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 08; 61(1):47-51. PubMed ID: 8676159 [Abstract] [Full Text] [Related]
13. Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF). Campos Y, Esteban J, Cabello A, Arenas J. Muscle Nerve; 1994 Oct 08; 17(10):1229-31. PubMed ID: 7935536 [No Abstract] [Full Text] [Related]
15. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Neurology; 2013 May 28; 80(22):2049-54. PubMed ID: 23635963 [Abstract] [Full Text] [Related]
17. Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. Lombès A, Diaz C, Romero NB, Ziegler F, Fardeau M. Neuromuscul Disord; 1992 May 28; 2(5-6):323-30. PubMed ID: 1300181 [Abstract] [Full Text] [Related]
18. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Larsson NG, Tulinius MH, Holme E, Oldfors A, Andersen O, Wahlström J, Aasly J. Am J Hum Genet; 1992 Dec 28; 51(6):1201-12. PubMed ID: 1463006 [Abstract] [Full Text] [Related]
19. Diagnosing MERRF requires clinical and genetic evidence. Finsterer J. Pol J Pathol; 2020 Dec 28; 71(3):283-284. PubMed ID: 33112121 [Abstract] [Full Text] [Related]
20. Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. Chomyn A, Lai ST, Shakeley R, Bresolin N, Scarlato G, Attardi G. Am J Hum Genet; 1994 Jun 28; 54(6):966-74. PubMed ID: 8198140 [Abstract] [Full Text] [Related] Page: [Next] [New Search]