251 related articles for article (PubMed ID: 14681892)
21. Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
Wiedemann FR; Bartels C; Kirches E; Mawrin C; Wallesch CW
Clin Neurol Neurosurg; 2008 Sep; 110(8):859-63. PubMed ID: 18657354
[TBL] [Abstract][Full Text] [Related]
22. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring.
Houshmand M; Lindberg C; Moslemi AR; Oldfors A; Holme E
Hum Mutat; 1999; 13(3):203-9. PubMed ID: 10090475
[TBL] [Abstract][Full Text] [Related]
23. The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
Tanji K; Gamez J; Cervera C; Mearin F; Ortega A; de la Torre J; Montoya J; Andreu AL; DiMauro S; Bonilla E
Acta Neuropathol; 2003 Jan; 105(1):69-75. PubMed ID: 12471464
[TBL] [Abstract][Full Text] [Related]
24. MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).
Hahn A; Schänzer A; Neubauer BA; Gizewski E; Ahting U; Rolinski B
Neuropediatrics; 2011 Aug; 42(4):148-51. PubMed ID: 21766266
[TBL] [Abstract][Full Text] [Related]
25. Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.
Suomalainen A; Ciafaloni E; Koga Y; Peltonen L; DiMauro S; Schon EA
J Neurol Sci; 1992 Sep; 111(2):222-6. PubMed ID: 1431990
[TBL] [Abstract][Full Text] [Related]
26. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.
Enriquez JA; Chomyn A; Attardi G
Nat Genet; 1995 May; 10(1):47-55. PubMed ID: 7647790
[TBL] [Abstract][Full Text] [Related]
27. 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
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR.
Cavelier L; Johannisson A; Gyllensten U
Exp Cell Res; 2000 Aug; 259(1):79-85. PubMed ID: 10942580
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.
Bornstein B; Mas JA; Patrono C; Fernández-Moreno MA; González-Vioque E; Campos Y; Carrozzo R; Martín MA; del Hoyo P; Santorelli FM; Arenas J; Garesse R
Biochem J; 2005 May; 387(Pt 3):773-8. PubMed ID: 15554876
[TBL] [Abstract][Full Text] [Related]
32. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
Shtilbans A; Shanske S; Goodman S; Sue CM; Bruno C; Johnson TL; Lava NS; Waheed N; DiMauro S
J Child Neurol; 2000 Nov; 15(11):759-61. PubMed ID: 11108511
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.
Suomalainen A; Kollmann P; Octave JN; Söderlund H; Syvänen AC
Eur J Hum Genet; 1993; 1(1):88-95. PubMed ID: 8069655
[TBL] [Abstract][Full Text] [Related]
35. MERRF syndrome with overwhelming lactic acidosis.
Sanger TD; Jain KD
Pediatr Neurol; 1996 Jan; 14(1):57-61. PubMed ID: 8652018
[TBL] [Abstract][Full Text] [Related]
36. 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
[TBL] [Abstract][Full Text] [Related]
37. Antimyoclonic effect of levetiracetam in MERRF syndrome.
Mancuso M; Galli R; Pizzanelli C; Filosto M; Siciliano G; Murri L
J Neurol Sci; 2006 Apr; 243(1-2):97-9. PubMed ID: 16414077
[TBL] [Abstract][Full Text] [Related]
38. MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
Mongini T; Doriguzzi C; Chiadò-Piat L; Silvestri G; Servidei S; Palmucci L
Clin Neuropathol; 2002; 21(2):72-6. PubMed ID: 12005255
[TBL] [Abstract][Full Text] [Related]
39. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
Silvestri G; Moraes CT; Shanske S; Oh SJ; DiMauro S
Am J Hum Genet; 1992 Dec; 51(6):1213-7. PubMed ID: 1361099
[TBL] [Abstract][Full Text] [Related]
40. Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.
Huang CC; Chu NS; Shih KD; Pang CY; Wei YH
J Formos Med Assoc; 1995 Apr; 94(4):159-63. PubMed ID: 7606176
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
