142 related articles for article (PubMed ID: 16368237)
1. Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene.
Cardaioli E; Da Pozzo P; Cerase A; Sicurelli F; Malandrini A; De Stefano N; Stromillo ML; Battisti C; Dotti MT; Federico A
Neuromuscul Disord; 2006 Jan; 16(1):26-31. PubMed ID: 16368237
[TBL] [Abstract][Full Text] [Related]
2. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E; Da Pozzo P; Gallus GN; Malandrini A; Gambelli S; Gaudiano C; Malfatti E; Viscomi C; Zicari E; Berti G; Serni G; Dotti MT; Federico A
Neuromuscul Disord; 2007 Oct; 17(9-10):681-3. PubMed ID: 17614276
[TBL] [Abstract][Full Text] [Related]
3. A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia.
Souilem S; Kefi M; Mancuso M; Nesti C; Hentati F; Amouri R
Diagn Mol Pathol; 2010 Mar; 19(1):28-32. PubMed ID: 20186009
[TBL] [Abstract][Full Text] [Related]
4. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
Nakamura M; Nakano S; Goto Y; Ozawa M; Nagahama Y; Fukuyama H; Akiguchi I; Kaji R; Kimura J
Biochem Biophys Res Commun; 1995 Sep; 214(1):86-93. PubMed ID: 7669057
[TBL] [Abstract][Full Text] [Related]
5. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
Verhoeven K; Ensink RJ; Tiranti V; Huygen PL; Johnson DF; Schatteman I; Van Laer L; Verstreken M; Van de Heyning P; Fischel-Ghodsian N; Zeviani M; Cremers CW; Willems PJ; Van Camp G
Eur J Hum Genet; 1999 Jan; 7(1):45-51. PubMed ID: 10094190
[TBL] [Abstract][Full Text] [Related]
6. The 7472insC mtDNA mutation impairs 5' and 3' processing of tRNA(Ser(UCN)).
Toompuu M; Levinger LL; Nadal A; Gomez J; Jacobs HT
Biochem Biophys Res Commun; 2004 Sep; 322(3):803-13. PubMed ID: 15336535
[TBL] [Abstract][Full Text] [Related]
7. Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.
Müller T; Deschauer M; Neudecker S; Zierz S
Acta Neuropathol; 2005 Oct; 110(4):426-30. PubMed ID: 16133542
[TBL] [Abstract][Full Text] [Related]
8. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.
Bidooki S; Jackson MJ; Johnson MA; Chrzanowska-Lightowlers ZM; Taylor RW; Venables G; Lightowlers RN; Turnbull DM; Bindoff LA
Neuromuscul Disord; 2004 Jul; 14(7):417-20. PubMed ID: 15210164
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
Möllers M; Maniura-Weber K; Kiseljakovic E; Bust M; Hayrapetyan A; Jaksch M; Helm M; Wiesner RJ; von Kleist-Retzow JC
Nucleic Acids Res; 2005; 33(17):5647-58. PubMed ID: 16199753
[TBL] [Abstract][Full Text] [Related]
11. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
Pulkes T; Liolitsa D; Eunson LH; Rose M; Nelson IP; Rahman S; Poulton J; Marchington DR; Landon DN; Debono AG; Morgan-Hughes JA; Hanna MG
Neuromuscul Disord; 2005 May; 15(5):364-71. PubMed ID: 15833431
[TBL] [Abstract][Full Text] [Related]
12. Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
Götz A; Isohanni P; Liljeström B; Rummukainen J; Nikolajev K; Herrgård E; Marjavaara S; Suomalainen A
Pediatr Res; 2012 Jul; 72(1):90-4. PubMed ID: 22453297
[TBL] [Abstract][Full Text] [Related]
13. [Screening for mitochondrial DNA mutation in two pedigrees with nonsyndromic inherited sensorineural hearing loss].
Li W; Han D; Yuan H; Wang Y; Cao J; Yang W; Jiang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Feb; 19(1):64-7. PubMed ID: 11836692
[TBL] [Abstract][Full Text] [Related]
14. [Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].
Shu AL; Ji BH; Qin W; Feng GY; Nie YZ; Liu T; He L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):303-5. PubMed ID: 16767669
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
Li W; Han D; Yuan H; Wang Y; Cao J; Yang W; Jiang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec; 18(6):415-20. PubMed ID: 11774206
[TBL] [Abstract][Full Text] [Related]
17. Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.
Cardaioli E; Malfatti E; Da Pozzo P; Gallus GN; Carluccio MA; Rufa A; Volpi N; Dotti MT; Federico A
J Neurol Sci; 2011 Apr; 303(1-2):142-5. PubMed ID: 21257182
[TBL] [Abstract][Full Text] [Related]
18. [Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy].
Zhang XA; Wu HC; Zhang BF; Yu W; Fan QS
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):18-21. PubMed ID: 15696472
[TBL] [Abstract][Full Text] [Related]
19. Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation.
Schuelke M; Bakker M; Stoltenburg G; Sperner J; von Moers A
Ann Neurol; 1998 Oct; 44(4):700-4. PubMed ID: 9778273
[TBL] [Abstract][Full Text] [Related]
20. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
Menotti F; Brega A; Diegoli M; Grasso M; Modena MG; Arbustini E
Ital Heart J; 2004 Jun; 5(6):460-5. PubMed ID: 15320572
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
