Horai S - Search Results

1

A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Goto Y, Tsugane K, Tanabe Y, Nonaka I, Horai S. Goto Y, et al. Among authors: horai s. Biochem Biophys Res Commun. 1994 Aug 15;202(3):1624-30. doi: 10.1006/bbrc.1994.2119. Biochem Biophys Res Commun. 1994. PMID: 7520241

2

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.

Ozawa M, Nishino I, Horai S, Nonaka I, Goto YI. Ozawa M, et al. Among authors: horai s. Muscle Nerve. 1997 Mar;20(3):271-8. doi: 10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8. Muscle Nerve. 1997. PMID: 9052804

3

A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy.

Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y. Nishino I, et al. Among authors: horai s. Biochem Biophys Res Commun. 1996 Aug 5;225(1):180-5. doi: 10.1006/bbrc.1996.1150. Biochem Biophys Res Commun. 1996. PMID: 8769114

4

Mitochondrial myopathy with progressive decrease in mitochondrial tRNA(Leu)(UUR) mutant genomes.

Kawakami Y, Sakuta R, Hashimoto K, Fujino O, Fujita T, Hida M, Horai S, Goto Y, Nonaka I. Kawakami Y, et al. Among authors: horai s. Ann Neurol. 1994 Mar;35(3):370-3. doi: 10.1002/ana.410350322. Ann Neurol. 1994. PMID: 8122892

5

Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO).

Hattori Y, Goto Y, Sakuta R, Nonaka I, Mizuno Y, Horai S. Hattori Y, et al. Among authors: horai s. J Neurol Sci. 1994 Aug;125(1):50-5. doi: 10.1016/0022-510x(94)90241-0. J Neurol Sci. 1994. PMID: 7525879

6

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

Goto Y, Nonaka I, Horai S. Goto Y, et al. Among authors: horai s. Nature. 1990 Dec 13;348(6302):651-3. doi: 10.1038/348651a0. Nature. 1990. PMID: 2102678

7

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.

Goto Y, Koga Y, Horai S, Nonaka I. Goto Y, et al. Among authors: horai s. J Neurol Sci. 1990 Dec;100(1-2):63-9. doi: 10.1016/0022-510x(90)90014-e. J Neurol Sci. 1990. PMID: 1965208

8

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

Goto Y, Nonaka I, Horai S. Goto Y, et al. Among authors: horai s. Biochim Biophys Acta. 1991 Oct 21;1097(3):238-40. doi: 10.1016/0925-4439(91)90042-8. Biochim Biophys Acta. 1991. PMID: 1932147

9

In situ hybridization of muscle mitochondrial mRNA in mitochondrial myopathies.

Nakamura S, Sato T, Hirawake H, Kobayashi R, Fukuda Y, Kawamura J, Ujike H, Horai S. Nakamura S, et al. Among authors: horai s. Acta Neuropathol. 1990;81(1):1-6. doi: 10.1007/BF00662630. Acta Neuropathol. 1990. PMID: 1707573

10

Severe lactic acidosis and neonatal death in Pearson syndrome.

Muraki K, Goto Y, Nishino I, Hayashidani M, Takeuchi S, Horai S, Sakura N, Ueda K. Muraki K, et al. Among authors: horai s. J Inherit Metab Dis. 1997 Mar;20(1):43-8. doi: 10.1023/a:1005305422544. J Inherit Metab Dis. 1997. PMID: 9061566

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