217 related articles for article (PubMed ID: 7726155)
1. Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.
Hanna MG; Nelson I; Sweeney MG; Cooper JM; Watkins PJ; Morgan-Hughes JA; Harding AE
Am J Hum Genet; 1995 May; 56(5):1026-33. PubMed ID: 7726155
[TBL] [Abstract][Full Text] [Related]
2. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.
Hao H; Bonilla E; Manfredi G; DiMauro S; Moraes CT
Am J Hum Genet; 1995 May; 56(5):1017-25. PubMed ID: 7726154
[TBL] [Abstract][Full Text] [Related]
3. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
Pereira C; Nogueira C; Barbot C; Tessa A; Soares C; Fattori F; Guimarães A; Santorelli FM; Vilarinho L
Biochem Biophys Res Commun; 2007 Mar; 354(4):937-41. PubMed ID: 17266923
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.
Nogueira C; Nunes J; Evangelista T; Fattori F; Tessa A; Pereira C; Santorelli FM; Vilarinho L
Mitochondrion; 2007 Dec; 7(6):396-8. PubMed ID: 17897888
[TBL] [Abstract][Full Text] [Related]
6. The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.
Hammans SR; Sweeney MG; Hanna MG; Brockington M; Morgan-Hughes JA; Harding AE
Brain; 1995 Jun; 118 ( Pt 3)():721-34. PubMed ID: 7600089
[TBL] [Abstract][Full Text] [Related]
7. Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.
Sunami Y; Sugaya K; Chihara N; Goto Y; Matsubara S
Neurol Sci; 2011 Oct; 32(5):861-4. PubMed ID: 21863273
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
Sternberg D; Chatzoglou E; Laforêt P; Fayet G; Jardel C; Blondy P; Fardeau M; Amselem S; Eymard B; Lombès A
Brain; 2001 May; 124(Pt 5):984-94. PubMed ID: 11335700
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
Sanaker PS; Nakkestad HL; Downham E; Bindoff LA
Acta Neurol Scand; 2010 Feb; 121(2):109-13. PubMed ID: 19744136
[TBL] [Abstract][Full Text] [Related]
10. 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; 51(6):1201-12. PubMed ID: 1463006
[TBL] [Abstract][Full Text] [Related]
11. [Clinical characterization of diabetes mellitus in the families with mitochondrial encephalomyopathies].
Suzuki S
Nihon Rinsho; 1994 Oct; 52(10):2606-10. PubMed ID: 7527090
[TBL] [Abstract][Full Text] [Related]
12. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
Boulet L; Karpati G; Shoubridge EA
Am J Hum Genet; 1992 Dec; 51(6):1187-200. PubMed ID: 1334369
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.
Virgilio R; Ronchi D; Bordoni A; Fassone E; Bonato S; Donadoni C; Torgano G; Moggio M; Corti S; Bresolin N; Comi GP
J Neurol Sci; 2009 Jun; 281(1-2):85-92. PubMed ID: 19278689
[TBL] [Abstract][Full Text] [Related]
14. 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; 9(6 Pt 1):527-33. PubMed ID: 12372990
[TBL] [Abstract][Full Text] [Related]
15. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
Uusimaa J; Finnilä S; Remes AM; Rantala H; Vainionpää L; Hassinen IE; Majamaa K
Pediatrics; 2004 Aug; 114(2):443-50. PubMed ID: 15286228
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Reyes A; Melchionda L; Nasca A; Carrara F; Lamantea E; Zanolini A; Lamperti C; Fang M; Zhang J; Ronchi D; Bonato S; Fagiolari G; Moggio M; Ghezzi D; Zeviani M
Am J Hum Genet; 2015 Jul; 97(1):186-93. PubMed ID: 26094573
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy.
Hsieh RH; Li JY; Pang CY; Wei YH
J Biomed Sci; 2001; 8(4):328-35. PubMed ID: 11455195
[TBL] [Abstract][Full Text] [Related]
19. Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA(Leu(UUR)) A3243G mutation in a four-generation Han Chinese family.
Lu J; Wang D; Li R; Li W; Ji J; Zhao J; Ye W; Yang L; Qian Y; Zhu Y; Guan MX
Biochem Biophys Res Commun; 2006 Sep; 348(1):115-9. PubMed ID: 16876129
[TBL] [Abstract][Full Text] [Related]
20. [Mitochondrial encephalomyopathy associated with parkinsonism and a point mutation in the mitochondrial tRNA(Leu)(UUR)) gene].
Hara K; Yamamoto M; Anegawa T; Sakuta R; Nakamura M
Rinsho Shinkeigaku; 1994 Apr; 34(4):361-5. PubMed ID: 8026131
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
