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Items: 1 to 20 of 219

1.

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y, Ohta S.

Biochem Biophys Res Commun. 1990 Dec 31;173(3):816-22.

PMID:
2268345
2.
3.
4.

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].

Obermaier-Kusser B, Paetzke-Brunner I, Enter C, Müller-Höcker J, Zierz S, Ruitenbeek W, Gerbitz KD.

FEBS Lett. 1991 Jul 29;286(1-2):67-70.

6.

Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.

Inui K, Fukushima H, Tsukamoto H, Taniike M, Midorikawa M, Tanaka J, Nishigaki T, Okada S.

J Pediatr. 1992 Jan;120(1):62-6.

PMID:
1370535
7.

A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, Fukawa O, Wachi E.

Biochem Mol Biol Int. 1994 Aug;33(6):1055-61.

PMID:
7804130
9.
11.

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Tanaka M, Ino H, Ohno K, Ohbayashi T, Ikebe S, Sano T, Ichiki T, Kobayashi M, Wada Y, Ozawa T.

Biochem Biophys Res Commun. 1991 Jan 31;174(2):861-8.

PMID:
1899574
13.

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.

Diabetes. 1994 Jun;43(6):746-51.

PMID:
7910800
14.

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

Lertrit P, Noer AS, Jean-Francois MJ, Kapsa R, Dennett X, Thyagarajan D, Lethlean K, Byrne E, Marzuki S.

Am J Hum Genet. 1992 Sep;51(3):457-68.

16.

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.

17.

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.

Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I.

Ann Neurol. 1992 Jun;31(6):672-5.

PMID:
1514779
18.

Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.

Hamazaki S, Koshiba M, Sugiyama T.

Acta Pathol Jpn. 1993 Apr;43(4):187-91.

PMID:
8493868
19.

MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH.

J Neurol Neurosurg Psychiatry. 1994 May;57(5):586-9.

20.

A specific point mutation in the mitochondrial genome of Caucasians with MELAS.

Enter C, Müller-Höcker J, Zierz S, Kurlemann G, Pongratz D, Förster C, Obermaier-Kusser B, Gerbitz KD.

Hum Genet. 1991 Dec;88(2):233-6.

PMID:
1684568
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