Matsubara Y - Search Results

1

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

2

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

3

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

4

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

5

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.

Matsubara Y, Kure S. Matsubara Y, et al. Hum Mutat. 2003 Aug;22(2):166-72. doi: 10.1002/humu.10247. Hum Mutat. 2003. PMID: 12872258

6

Glycine cleavage system in neurogenic regions.

Ichinohe A, Kure S, Mikawa S, Ueki T, Kojima K, Fujiwara K, Iinuma K, Matsubara Y, Sato K. Ichinohe A, et al. Among authors: matsubara y. Eur J Neurosci. 2004 May;19(9):2365-70. doi: 10.1111/j.0953-816X.2004.03345.x. Eur J Neurosci. 2004. PMID: 15128390 Free article.

7

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

8

Mutations in the holocarboxylase synthetase gene HLCS.

Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y. Suzuki Y, et al. Among authors: matsubara y. Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204. Hum Mutat. 2005. PMID: 16134170 Review.

9

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.

10

Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.

Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y. Kure S, et al. Among authors: matsubara y. Ann Neurol. 2006 May;59(5):862-7. doi: 10.1002/ana.20853. Ann Neurol. 2006. PMID: 16634033

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