Suzuki K - Search Results

1

Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

Boustany RM, Qian WH, Suzuki K. Boustany RM, et al. Among authors: suzuki k. Am J Hum Genet. 1993 Oct;53(4):881-8. Am J Hum Genet. 1993. PMID: 8213816 Free PMC article.

2

Role of subunit-9 of mitochondrial ATP synthase in Batten disease.

Johnson DW, Speier S, Qian WH, Lane S, Cook A, Suzuki K, Daniel P, Boustany RM. Johnson DW, et al. Among authors: suzuki k. Am J Med Genet. 1995 Jun 5;57(2):350-60. doi: 10.1002/ajmg.1320570250. Am J Med Genet. 1995. PMID: 7668362

3

Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.

Boustany RM, Tanaka A, Nishimoto J, Suzuki K. Boustany RM, et al. Among authors: suzuki k. Ann Neurol. 1991 Jan;29(1):104-7. doi: 10.1002/ana.410290120. Ann Neurol. 1991. PMID: 1996872

4

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: suzuki k. Am J Hum Genet. 1991 Sep;49(3):566-74. Am J Hum Genet. 1991. PMID: 1909089 Free PMC article.

5

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.

Hara Y, Ioannou P, Drousiotou A, Stylianidou G, Anastasiadou V, Suzuki K. Hara Y, et al. Among authors: suzuki k. Hum Genet. 1994 Aug;94(2):136-40. doi: 10.1007/BF00202858. Hum Genet. 1994. PMID: 8045559

6

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.

Hahn CN, del Pilar Martin M, Schröder M, Vanier MT, Hara Y, Suzuki K, Suzuki K, d'Azzo A. Hahn CN, et al. Among authors: suzuki k. Hum Mol Genet. 1997 Feb;6(2):205-11. doi: 10.1093/hmg/6.2.205. Hum Mol Genet. 1997. PMID: 9063740

7

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.

dos Santos MR, Tanaka A, sá Miranda MC, Ribeiro MG, Maia M, Suzuki K. dos Santos MR, et al. Among authors: suzuki k. Am J Hum Genet. 1991 Oct;49(4):886-90. Am J Hum Genet. 1991. PMID: 1832817 Free PMC article.

8

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K. Tanaka A, et al. Among authors: suzuki k. Am J Hum Genet. 1990 Feb;46(2):329-39. Am J Hum Genet. 1990. PMID: 2137287 Free PMC article.

9

Molecular cloning of mouse acid beta-galactosidase cDNA: sequence, expression of catalytic activity and comparison with the human enzyme.

Nanba E, Suzuki K. Nanba E, et al. Among authors: suzuki k. Biochem Biophys Res Commun. 1990 Nov 30;173(1):141-8. doi: 10.1016/s0006-291x(05)81033-2. Biochem Biophys Res Commun. 1990. PMID: 2124109

10

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K, Suzuki K. Matsuda J, et al. Among authors: suzuki k. Hum Mol Genet. 2001 May 15;10(11):1191-9. doi: 10.1093/hmg/10.11.1191. Hum Mol Genet. 2001. PMID: 11371512

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