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Results: 1 to 20 of 109

1.

[MELAS syndrome in a five year-old child: clinical, biological and genetic characteristics].

Edmar A, Lombès A, Renouil M, Bangui A, Lamblin D, Boumahni B, Chaurand G, Mariette JB, Fourmaintraux A, Vallee L.

Arch Pediatr. 1998 Sep;5(9):1000-3. French.

PMID:
9789633
[PubMed - indexed for MEDLINE]
2.

The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy.

Feigenbaum A, Chitayat D, Robinson B, MacGregor D, Myint T, Arbus G, Nowaczyk MJ.

Am J Med Genet. 1996 Apr 24;62(4):404-9.

PMID:
8723072
[PubMed - indexed for MEDLINE]
3.

[Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254].

Mitsuoka T, Kawarai T, Watanabe C, Katayama S, Nakamura S.

No To Shinkei. 1998 Dec;50(12):1089-92. Review. Japanese.

PMID:
9989353
[PubMed - indexed for MEDLINE]
4.

Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).

Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON.

Biochem Biophys Res Commun. 1997 Apr 28;233(3):637-9.

PMID:
9168904
[PubMed - indexed for MEDLINE]
5.

The mitochondrial A3243G mutation presenting as severe cardiomyopathy.

Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S.

J Med Genet. 1997 Jul;34(7):607-9.

PMID:
9222976
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

[Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus].

Pérez López-Fraile MI, Barrena R, Montoya J, Marta E.

Neurologia. 2006 Jul-Aug;21(6):327-32. Spanish.

PMID:
16799910
[PubMed - indexed for MEDLINE]
7.

Clinical features of A3243G mitochondrial tRNA mutation.

Chae JH, Hwang H, Lim BC, Cheong HI, Hwang YS, Kim KJ.

Brain Dev. 2004 Oct;26(7):459-62.

PMID:
15351082
[PubMed - indexed for MEDLINE]
8.

A boy with muscle weakness, hypercarbia, and the mitochondrial DNA A3243G mutation.

Saneto RP, Bouldin A.

J Child Neurol. 2006 Jan;21(1):77-9.

PMID:
16551459
[PubMed - indexed for MEDLINE]
9.

[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].

Coelho-Miranda L, Playan A, Artuch R, Vilaseca MA, Colomer J, Briones P, Coll-Cantí J, Conill J, Sans A, López de Munain A, Solano A, Alcaine MJ, Montoya J, Pineda M.

Rev Neurol. 2000 Nov 1-15;31(9):804-11. Spanish.

PMID:
11127079
[PubMed - indexed for MEDLINE]
10.

Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA.

Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH.

Zhonghua Yi Xue Za Zhi (Taipei). 2000 Jan;63(1):71-6.

PMID:
10645055
[PubMed - indexed for MEDLINE]
11.

An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom.

Higashikata T, Koyama J, Shimada H, Yazaki M, Owa M, Ikeda S.

Intern Med. 2001 May;40(5):405-8.

PMID:
11393411
[PubMed - indexed for MEDLINE]
Free Article
12.

Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation.

van Eijsden RG, Eijssen LM, Lindsey PJ, van den Burg CM, de Wit LE, Rubio-Gozalbo ME, de Die CE, Ayoubi T, Sluiter W, de Coo IF, Smeets HJ.

J Med Genet. 2008 Aug;45(8):525-34. doi: 10.1136/jmg.2008.057497. Epub 2008 May 2.

PMID:
18456717
[PubMed - indexed for MEDLINE]
13.

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, Jean-Francois MJ, Byrne E, Morris JG.

J Neurol Neurosurg Psychiatry. 1998 Aug;65(2):233-40.

PMID:
9703178
[PubMed - indexed for MEDLINE]
Free PMC Article
14.
15.

[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].

Delgado-Sánchez R, Zárate-Moysen A, Monsalvo-Reyes A, Herrero MD, Ruiz-Pesini E, López-Pérez M, Montoya J, Montiel-Sosa JF.

Rev Neurol. 2007 Jan 1-15;44(1):18-22. Spanish.

PMID:
17199225
[PubMed - indexed for MEDLINE]
Free Article
16.

Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS.

Abu-Amero KK, Ozand PT, Al-Dhalaan H.

J Child Neurol. 2006 Nov;21(11):971-2.

PMID:
17092464
[PubMed - indexed for MEDLINE]
17.

The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.

Vilarinho L, Santorelli FM, Coelho I, Rodrigues L, Maia M, Barata I, Cabral P, Dionísio A, Costa A, Guimarães A, DiMauro S.

J Neurol Sci. 1999 Mar 1;163(2):168-74.

PMID:
10371079
[PubMed - indexed for MEDLINE]
18.

Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease.

Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto Y.

J Hum Genet. 2001;46(6):330-4.

PMID:
11393536
[PubMed - indexed for MEDLINE]
19.

De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring.

Ko CH, Lam CW, Tse PW, Kong CK, Chan AK, Wong LJ.

J Paediatr Child Health. 2001 Feb;37(1):87-90.

PMID:
11168879
[PubMed - indexed for MEDLINE]
20.

Reduction of mitochondrial tRNALeu(UUR) aminoacylation by some MELAS-associated mutations.

Hao R, Yao YN, Zheng YG, Xu MG, Wang ED.

FEBS Lett. 2004 Dec 3;578(1-2):135-9.

PMID:
15581630
[PubMed - indexed for MEDLINE]
Free Article

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