Hirano M - Search Results

1

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.

Hirano M, Ueno S. Hirano M, et al. Neurology. 1999 Jan 1;52(1):182-4. doi: 10.1212/wnl.52.1.182. Neurology. 1999. PMID: 9921872

2

Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia.

Ueno S, Hirano M. Ueno S, et al. Among authors: hirano m. Brain Dev. 2000 Sep;22 Suppl 1:S111-4. doi: 10.1016/s0387-7604(00)00135-2. Brain Dev. 2000. PMID: 10984670

3

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.

Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S. Hirano M, et al. Biochem Biophys Res Commun. 1995 Aug 15;213(2):645-51. doi: 10.1006/bbrc.1995.2180. Biochem Biophys Res Commun. 1995. PMID: 7544125

4

Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).

Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S. Nagai Y, et al. Among authors: hirano m. Neurology. 1996 Feb;46(2):571-4. doi: 10.1212/wnl.46.2.571. Neurology. 1996. PMID: 8614539

5

Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset.

Hirano M, Tamaru Y, Ito H, Matsumoto S, Imai T, Ueno S. Hirano M, et al. Ann Neurol. 1996 Nov;40(5):796-8. doi: 10.1002/ana.410400517. Ann Neurol. 1996. PMID: 8957022

6

Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia.

Hirano M, Imaiso Y, Ueno S. Hirano M, et al. Biochem Biophys Res Commun. 1997 May 19;234(2):316-9. doi: 10.1006/bbrc.1997.6632. Biochem Biophys Res Commun. 1997. PMID: 9177267

7

alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia.

Tamaru Y, Hirano M, Kusaka H, Ito H, Imai T, Ueno S. Tamaru Y, et al. Among authors: hirano m. Neurology. 1997 Aug;49(2):584-8. doi: 10.1212/wnl.49.2.584. Neurology. 1997. PMID: 9270601

8

A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.

Imaiso Y, Taniwaki T, Yamada T, Yoshimura T, Hirano M, Ueno S, Kaneda N, Kira J. Imaiso Y, et al. Among authors: hirano m. Neurology. 1998 Feb;50(2):517-9. doi: 10.1212/wnl.50.2.517. Neurology. 1998. PMID: 9484387

9

Tamaru Y, Hirano M, Ito H, Kawamura J, Matsumoto S, Imai T, Ueno S. Tamaru Y, et al. Among authors: hirano m. J Neurol Neurosurg Psychiatry. 1998 Apr;64(4):469-73. doi: 10.1136/jnnp.64.4.469. J Neurol Neurosurg Psychiatry. 1998. PMID: 9576537 Free PMC article.

10

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia.

Hirano M, Yanagihara T, Ueno S. Hirano M, et al. Ann Neurol. 1998 Sep;44(3):365-71. doi: 10.1002/ana.410440312. Ann Neurol. 1998. PMID: 9749603

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2,293 results

Search Page

Filters