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Journal Abstract Search
213 related items for PubMed ID: 8006688
1. Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation. Thompson PD, Hammans SR, Harding AE. J Neurol; 1994 Mar; 241(5):335-40. PubMed ID: 8006688 [Abstract] [Full Text] [Related]
2. 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 Mar; 1(1):80-7. PubMed ID: 8069654 [Abstract] [Full Text] [Related]
3. The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE. Brain; 1993 Jun; 116 ( Pt 3)():617-32. PubMed ID: 8513395 [Abstract] [Full Text] [Related]
4. Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. Remes AM, Kärppä M, Moilanen JS, Rusanen H, Hassinen IE, Majamaa K, Uimonen S, Sorri M, Salmela PI, Karvonen SL, Karvonen SL. J Neurol Neurosurg Psychiatry; 2003 Aug; 74(8):1158-9. PubMed ID: 12876264 [No Abstract] [Full Text] [Related]
6. Cortical reflex myoclonus in Rett syndrome. Guerrini R, Bonanni P, Parmeggiani L, Santucci M, Parmeggiani A, Sartucci F. Ann Neurol; 1998 Apr; 43(4):472-9. PubMed ID: 9546328 [Abstract] [Full Text] [Related]
7. 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; 48(2):203-11. PubMed ID: 1899320 [Abstract] [Full Text] [Related]
10. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH. Muscle Nerve; 1994 Jan; 17(1):52-7. PubMed ID: 8264702 [Abstract] [Full Text] [Related]
17. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients. Tanno Y, Yoneda M, Tanaka K, Kondo R, Hozumi I, Wakabayashi K, Yamada M, Fukuhara N, Ikuta F, Tsuji S. Neurology; 1993 Jun; 43(6):1198-200. PubMed ID: 8170566 [Abstract] [Full Text] [Related]