Matsubara Y - Search Results

1

Atypical variants of nonketotic hyperglycinemia.

Dinopoulos A, Matsubara Y, Kure S. Dinopoulos A, et al. Among authors: matsubara y. Mol Genet Metab. 2005 Sep-Oct;86(1-2):61-9. doi: 10.1016/j.ymgme.2005.07.016. Mol Genet Metab. 2005. PMID: 16157495 Review.

2

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.

Dinopoulos A, Kure S, Chuck G, Sato K, Gilbert DL, Matsubara Y, Degrauw T. Dinopoulos A, et al. Among authors: matsubara y. Neurology. 2005 Apr 12;64(7):1255-7. doi: 10.1212/01.WNL.0000156800.23776.40. Neurology. 2005. PMID: 15824356

3

Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.

Kure S, Kojima K, Ichinohe A, Maeda T, Kalmanchey R, Fekete G, Berg SZ, Filiano J, Aoki Y, Suzuki Y, Izumi T, Matsubara Y. Kure S, et al. Among authors: matsubara y. Ann Neurol. 2002 Nov;52(5):643-6. doi: 10.1002/ana.10367. Ann Neurol. 2002. PMID: 12402263

4

Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.

Kure S, Ichinohe A, Kojima K, Sato K, Kizaki Z, Inoue F, Yamanaka C, Matsubara Y. Kure S, et al. Among authors: matsubara y. J Pediatr. 2004 Jun;144(6):827-9. doi: 10.1016/j.jpeds.2004.02.044. J Pediatr. 2004. PMID: 15192636

5

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S. Boneh A, et al. Among authors: matsubara y. J Hum Genet. 2005;50(5):230-234. doi: 10.1007/s10038-005-0243-y. Epub 2005 Apr 29. J Hum Genet. 2005. PMID: 15864413

6

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y. Kure S, et al. Among authors: matsubara y. Hum Mutat. 2006 Apr;27(4):343-52. doi: 10.1002/humu.20293. Hum Mutat. 2006. PMID: 16450403

7

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

Kure S, Mandel H, Rolland MO, Sakata Y, Shinka T, Drugan A, Boneh A, Tada K, Matsubara Y, Narisawa K. Kure S, et al. Among authors: matsubara y. Hum Genet. 1998 Apr;102(4):430-4. doi: 10.1007/s004390050716. Hum Genet. 1998. PMID: 9600239

8

Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia.

Takayanagi M, Kure S, Sakata Y, Kurihara Y, Ohya Y, Kajita M, Tada K, Matsubara Y, Narisawa K. Takayanagi M, et al. Among authors: matsubara y. Hum Genet. 2000 Mar;106(3):298-305. doi: 10.1007/s004390051041. Hum Genet. 2000. PMID: 10798358

9

Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.

Kure S, Kojima K, Kudo T, Kanno K, Aoki Y, Suzuki Y, Shinka T, Sakata Y, Narisawa K, Matsubara Y. Kure S, et al. Among authors: matsubara y. J Hum Genet. 2001;46(7):378-84. doi: 10.1007/s100380170057. J Hum Genet. 2001. PMID: 11450847

10

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X, Sakamoto O, Matsubara Y, Kure S, Suzuki Y, Aoki Y, Yamaguchi S, Takahashi Y, Nishikubo T, Kawaguchi C, Yoshioka A, Kimura T, Hayasaka K, Kohno Y, Iinuma K, Ohura T. Yang X, et al. Among authors: matsubara y. Mol Genet Metab. 2004 Apr;81(4):335-42. doi: 10.1016/j.ymgme.2004.01.003. Mol Genet Metab. 2004. PMID: 15059621

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