Okada S - Search Results

1

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Nishimoto J, Nanba E, Inui K, Okada S, Suzuki K. Nishimoto J, et al. Among authors: okada s. Am J Hum Genet. 1991 Sep;49(3):566-74. Am J Hum Genet. 1991. PMID: 1909089 Free PMC article.

2

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: okada s. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349

3

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.

Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al. Yoshida K, et al. Among authors: okada s. Ann Neurol. 1992 Mar;31(3):328-32. doi: 10.1002/ana.410310316. Ann Neurol. 1992. PMID: 1353343

4

Mutation analysis of a Japanese patient with fucosidosis.

Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fu L, Fukushima H, Yanagihara I, Tsukamoto H, Kurahashi H, Okada S. Akagi M, et al. Among authors: okada s. J Hum Genet. 1999;44(5):323-6. doi: 10.1007/s100380050169. J Hum Genet. 1999. PMID: 10496076

5

Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.

Akagi M, Inui K, Nakajima S, Shima M, Nishigaki T, Muramatsu T, Kokubu C, Tsukamoto H, Sakai N, Okada S. Akagi M, et al. Among authors: okada s. J Hum Genet. 2000;45(1):60-2. doi: 10.1007/s100380050013. J Hum Genet. 2000. PMID: 10697967

6

A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies.

Inui K, Namba R, Ihara Y, Nobukuni K, Taniike M, Midorikawa M, Tsukamoto H, Okada S. Inui K, et al. Among authors: okada s. J Neurol. 1990 Dec;237(8):491-3. doi: 10.1007/BF00314770. J Neurol. 1990. PMID: 2127425

7

A family with pseudodeficiency of acid alpha-glucosidase.

Nishimoto J, Inui K, Okada S, Ishigami W, Hirota S, Yamano T, Yabuuchi H. Nishimoto J, et al. Among authors: okada s. Clin Genet. 1988 Apr;33(4):254-61. doi: 10.1111/j.1399-0004.1988.tb03446.x. Clin Genet. 1988. PMID: 3282727

8

Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.

Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S. Sakai N, et al. Among authors: okada s. Biochem Biophys Res Commun. 1994 Jan 28;198(2):485-91. doi: 10.1006/bbrc.1994.1071. Biochem Biophys Res Commun. 1994. PMID: 8297359

9

Allele frequencies of intragenic, and 5' and 3' markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy.

Tsukamoto H, Inui K, Fukushima H, Okada S. Tsukamoto H, et al. Among authors: okada s. Jpn J Hum Genet. 1996 Dec;41(4):391-7. doi: 10.1007/BF01876329. Jpn J Hum Genet. 1996. PMID: 9088109

10

Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Akanuma J, et al. Among authors: okada s. Am J Med Genet. 2000 Mar 13;91(2):107-12. Am J Med Genet. 2000. PMID: 10748407

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

4,420 results

Search Page