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2. Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. Träff J; Holme E; Ekbom K; Nilsson BY Acta Neurol Scand; 1995 Nov; 92(5):394-7. PubMed ID: 8610493 [TBL] [Abstract][Full Text] [Related]
3. Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report. Sitburana O; Witoonpanich R; Phudhichareonrat S; Lertrit P; Supavilai R J Med Assoc Thai; 2001 Jul; 84(7):1051-5. PubMed ID: 11759966 [TBL] [Abstract][Full Text] [Related]
4. Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF? Schoffer K; Grant I Muscle Nerve; 2006 Jan; 33(1):142-6. PubMed ID: 16007676 [TBL] [Abstract][Full Text] [Related]
5. 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; 33(6):640-5. PubMed ID: 8388680 [TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation. Austin SA; Vriesendorp FJ; Thandroyen FT; Hecht JT; Jones OT; Johns DR Neurology; 1998 Nov; 51(5):1447-50. PubMed ID: 9818878 [TBL] [Abstract][Full Text] [Related]
7. 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; 17(10):1229-31. PubMed ID: 7935536 [No Abstract] [Full Text] [Related]
8. [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; 138(13):401-5. PubMed ID: 10566210 [TBL] [Abstract][Full Text] [Related]
9. Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. Teive HA; Munhoz RP; Muzzio JA; Scola RH; Kay CK; Raskin S; Werneck LC; Bruhn H Mov Disord; 2008 Jun; 23(8):1191-2. PubMed ID: 18412280 [No 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; 68(1):56-8. PubMed ID: 17200493 [TBL] [Abstract][Full Text] [Related]
11. Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Holme E; Larsson NG; Oldfors A; Tulinius M; Sahlin P; Stenman G Am J Hum Genet; 1993 Mar; 52(3):551-6. PubMed ID: 8447321 [TBL] [Abstract][Full Text] [Related]
12. 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; 3():S102-6. PubMed ID: 7603509 [TBL] [Abstract][Full Text] [Related]
13. 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; 113(5):334-41. PubMed ID: 16629770 [TBL] [Abstract][Full Text] [Related]
15. Fibrous dysplasia in a child with mitochondrial A8344G mutation. Chen ST; Fan PC; Hwu WL; Wu MH J Child Neurol; 2008 Dec; 23(12):1447-50. PubMed ID: 18772492 [TBL] [Abstract][Full Text] [Related]
16. 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; 21(1):79-82. PubMed ID: 16551460 [TBL] [Abstract][Full Text] [Related]
17. Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology. Du W; Li W; Chen G; Cao H; Tang H; Tang X; Jin Q; Sun Z; Zhao H; Zhou W; He S; Lv Y; Zhao J; Zhang X Biosens Bioelectron; 2009 Apr; 24(8):2371-6. PubMed ID: 19155171 [TBL] [Abstract][Full Text] [Related]
19. Outcome of endoscopic lipoma resection in myoclonic epilepsy with ragged-red fibers syndrome may depend on the genotype. Finsterer J Asian J Surg; 2020 Oct; 43(10):1024-1025. PubMed ID: 32631623 [No Abstract] [Full Text] [Related]
20. 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 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]