Kojima K - Search Results

1

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

Kojima K, Kure S, Kamada F, Hao K, Ichinohe A, Sato K, Aoki Y, Yoichi S, Kubota M, Horikawa R, Utsumi A, Miura M, Ogawa S, Kanazawa M, Kohno Y, Inokuchi M, Hasegawa T, Narisawa K, Matsubara Y. Kojima K, et al. Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004. Mol Genet Metab. 2004. PMID: 15059622

2

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Toone JR, Applegarth DA, Kure S, Coulter-Mackie MB, Sazegar P, Kojima K, Ichinohe A. Toone JR, et al. Among authors: kojima k. Mol Genet Metab. 2002 Jul;76(3):243-9. doi: 10.1016/s1096-7192(02)00041-0. Mol Genet Metab. 2002. PMID: 12126939

3

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness.

Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y. Kudo T, et al. Among authors: kojima k. Hum Mol Genet. 2003 May 1;12(9):995-1004. doi: 10.1093/hmg/ddg116. Hum Mol Genet. 2003. PMID: 12700168

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: kojima k. J Pediatr. 2004 Jun;144(6):827-9. doi: 10.1016/j.jpeds.2004.02.044. J Pediatr. 2004. PMID: 15192636

5

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. Kamada F, et al. Among authors: kojima k. J Hum Genet. 2006;51(5):455-460. doi: 10.1007/s10038-006-0384-7. Epub 2006 Apr 5. J Hum Genet. 2006. PMID: 16596322

6

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: kojima k. Ann Neurol. 2002 Nov;52(5):643-6. doi: 10.1002/ana.10367. Ann Neurol. 2002. PMID: 12402263

7

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: kojima k. 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.

8

Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system.

Oda M, Kure S, Sugawara T, Yamaguchi S, Kojima K, Shinka T, Sato K, Narisawa A, Aoki Y, Matsubara Y, Omae T, Mizoi K, Kinouchi H. Oda M, et al. Among authors: kojima k. Stroke. 2007 Jul;38(7):2157-64. doi: 10.1161/STROKEAHA.106.477026. Epub 2007 May 17. Stroke. 2007. PMID: 17510459

9

Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.

Korman SH, Boneh A, Ichinohe A, Kojima K, Sato K, Ergaz Z, Gomori JM, Gutman A, Kure S. Korman SH, et al. Among authors: kojima k. Ann Neurol. 2004 Jul;56(1):139-43. doi: 10.1002/ana.20159. Ann Neurol. 2004. PMID: 15236413

10

Characteristics of suitable cases for treatment with nemolizumab based on clinical findings and cutaneous adverse events.

Sugiyama A, Yano-Takamori A, Kojima K, Nishie H, Nishimura M, Hiramoto T, Nakahara T. Sugiyama A, et al. Among authors: kojima k. J Dermatol. 2025 Jan 16. doi: 10.1111/1346-8138.17626. Online ahead of print. J Dermatol. 2025. PMID: 39817474

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