Shimmoto M - Search Results

1

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.

Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y. Ishii S, et al. Among authors: shimmoto m. Ann Neurol. 1991 May;29(5):560-4. doi: 10.1002/ana.410290517. Ann Neurol. 1991. PMID: 1650161

2

GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.

Oshima A, Yoshida K, Ishizaki A, Shimmoto M, Fukuhara Y, Sakuraba H, Suzuki Y. Oshima A, et al. Among authors: shimmoto m. Clin Genet. 1992 May;41(5):235-8. doi: 10.1111/j.1399-0004.1992.tb03672.x. Clin Genet. 1992. PMID: 1606711

3

Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products.

Ishii K, Sakuraba H, Minamikawa-Tachino R, Shimmoto M, Suzuki Y. Ishii K, et al. Among authors: shimmoto m. Brain Dev. 1992 Mar;14(2):80-3. doi: 10.1016/s0387-7604(12)80090-8. Brain Dev. 1992. PMID: 1621929

4

Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.

Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y. Nagao Y, et al. Among authors: shimmoto m. Clin Genet. 1991 Mar;39(3):233-7. doi: 10.1111/j.1399-0004.1991.tb03018.x. Clin Genet. 1991. PMID: 1645238

5

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y. Yoshida K, et al. Among authors: shimmoto m. Am J Hum Genet. 1991 Aug;49(2):435-42. Am J Hum Genet. 1991. PMID: 1907800 Free PMC article.

6

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.

Fukuhara Y, Sakuraba H, Oshima A, Shimmoto M, Nagao Y, Nadaoka Y, Suzuki T, Suzuki Y. Fukuhara Y, et al. Among authors: shimmoto m. Biochem Biophys Res Commun. 1990 Jul 16;170(1):296-300. doi: 10.1016/0006-291x(90)91273-u. Biochem Biophys Res Commun. 1990. PMID: 2164807

7

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y. Sakuraba H, et al. Among authors: shimmoto m. Am J Hum Genet. 1990 Nov;47(5):784-9. Am J Hum Genet. 1990. PMID: 2171331 Free PMC article.

8

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

Takata T, Okumiya T, Hayashibe H, Shimmoto M, Kase R, Itoh K, Utsumi K, Kamei S, Sakuraba H. Takata T, et al. Among authors: shimmoto m. Brain Dev. 1997 Mar;19(2):111-6. doi: 10.1016/s0387-7604(96)00486-x. Brain Dev. 1997. PMID: 9105656 Clinical Trial.

9

Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

Shimmoto M, Kase R, Itoh K, Utsumi K, Ishii S, Taya C, Yonekawa H, Sakuraba H. Shimmoto M, et al. FEBS Lett. 1997 Nov 3;417(1):89-91. doi: 10.1016/s0014-5793(97)01263-5. FEBS Lett. 1997. PMID: 9395081 Free article.

10

Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.

Suzuki Y, Sakuraba H, Oshima A, Yoshida K, Shimmoto M, Takano T, Fukuhara Y. Suzuki Y, et al. Among authors: shimmoto m. Dev Neurosci. 1991;13(4-5):299-303. doi: 10.1159/000112201. Dev Neurosci. 1991. PMID: 1817034 Review.

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

45 results

Search Page

Filters