A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
Kamada, Fumiaki, Kure, Shigeo, Kudo, Takayuki, Suzuki, Yoichi, Oshima, Takeshi, Ichinohe, Akiko, Kojima, Kanako, Niihori, Tetsuya, Kanno, Junko, Narumi, Yoko, Narisawa, Ayumi, Kato, Kumi, Aoki, Yoko, Ikeda, Katsuhisa, Kobayashi, Toshimitsu, Matsubara, Yoichi
Published in Journal of human genetics (01.05.2006)
Published in Journal of human genetics (01.05.2006)
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Glycine cleavage system in neurogenic regions
Ichinohe, Akiko, Kure, Shigeo, Mikawa, Sumiko, Ueki, Takatoshi, Kojima, Kanako, Fujiwara, Kazuko, Iinuma, Kazuie, Matsubara, Yoichi, Sato, Kohji
Published in The European journal of neuroscience (01.05.2004)
Published in The European journal of neuroscience (01.05.2004)
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Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
Kure, Shigeo, Kojima, Kanako, Ichinohe, Akiko, Maeda, Tomoki, Kalmanchey, Rozalia, Fekete, György, Berg, Suzan Z., Filiano, Jim, Aoki, Yoko, Suzuki, Yoichi, Izumi, Tatsuro, Matsubara, Yoichi
Published in Annals of neurology (01.11.2002)
Published in Annals of neurology (01.11.2002)
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Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
Kudo, Takayuki, Kure, Shigeo, Ikeda, Katsuhisa, Xia, An-Ping, Katori, Yukio, Suzuki, Masaaki, Kojima, Kanako, Ichinohe, Akiko, Suzuki, Yoichi, Aoki, Yoko, Kobayashi, Toshimitsu, Matsubara, Yoichi
Published in Human molecular genetics (01.05.2003)
Published in Human molecular genetics (01.05.2003)
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Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
Korman, Stanley H., Boneh, Avihu, Ichinohe, Akiko, Kojima, Kanako, Sato, Kenichi, Ergaz, Zivanit, Gomori, John M., Gutman, Alisa, Kure, Shigeo
Published in Annals of neurology (01.07.2004)
Published in Annals of neurology (01.07.2004)
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Model Mice for Mild-Form Glycine Encephalopathy: Behavioral and Biochemical Characterizations and Efficacy of Antagonists for the Glycine Binding Site of N-Methyl D-Aspartate Receptor
Kojima-Ishii, Kanako, Kure, Shigeo, Ichinohe, Akiko, Shinka, Toshikatsu, Narisawa, Ayumi, Komatsuzaki, Shoko, Kanno, Junnko, Kamada, Fumiaki, Aoki, Yoko, Yokoyama, Hiroyuki, Oda, Masaya, Sugawara, Taku, Mizoi, Kazuo, Nakahara, Daiichiro, Matsubara, Yoichi
Published in Pediatric research (01.09.2008)
Published in Pediatric research (01.09.2008)
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Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients
Kure, Shigeo, Ichinohe, Akiko, Kojima, Kanako, Sato, Kenichi, Kizaki, Zenro, Inoue, Fumio, Yamanaka, Chutaro, Matsubara, Yoichi
Published in The Journal of pediatrics (01.06.2004)
Published in The Journal of pediatrics (01.06.2004)
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Platelet counts and their interaction with inflammatory indexes in acute poststreptococcal glomerulonephritis
Sakamoto, Izumi, Ichinohe, Akiko, Ueda, Ikuyo, Fusaoka, Tohru, Fujiwara, Katuhiko, Naitoh, Takesi, Kuriyama, Kikuko, Hasida, Tetuo, Ohtsuka, Takuji
Published in Japanese journal of pediatric nephrology (30.04.1997)
Published in Japanese journal of pediatric nephrology (30.04.1997)
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Kure, Shigeo, Kojima, Kanako, Ichinohe, Akiko, Maeda, Tomoki, Kalmanchey, Rozalia, Fekete, György, Berg, Suzan Z., Filiano, Jim, Aoki, Yoko, Suzuki, Yoichi, Izumi, Tatsuro, Matsubara, Yoichi
Published in Annals of neurology (01.05.2003)
Published in Annals of neurology (01.05.2003)
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Kure, Shigeo, Kojima, Kanako, Ichinohe, Akiko, Maeda, Tomoki, Kalmanchey, Rozalia, Fekete, György, Berg, Suzan Z., Filiano, Jim, Aoki, Yoko, Suzuki, Yoichi, Izumi, Tatsuro, Matsubara, Yoichi
Published in Annals of neurology (01.05.2003)
Published in Annals of neurology (01.05.2003)
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Kure, Shigeo, Kojima, Kanako, Ichinohe, Akiko, Maeda, Tomoki, Kalmanchey, Rozalia, Fekete, György, Berg, Suzan Z., Filiano, Jim, Aoki, Yoko, Suzuki, Yoichi, Izumi, Tatsuro, Matsubara, Yoichi
Published in Annals of neurology (01.05.2003)
Published in Annals of neurology (01.05.2003)
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Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)
Toone, Jennifer R., Applegarth, Derek A., Kure, Shigeo, Coulter-Mackie, Marion B., Sazegar, Payam, Kojima, Kanako, Ichinohe, Akiko
Published in Molecular genetics and metabolism (01.07.2002)
Published in Molecular genetics and metabolism (01.07.2002)
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溶連菌感染後急性糸球体腎炎の血小板数の観察
坂本, 泉, 一戸, 明子, 上田, 育代, 房岡, 徹, 藤原, 克彦, 内藤, 岳史, 栗山, 貴久子, 橋田, 哲夫, 大塚, 拓治
Published in 日本小児腎臓病学会雑誌 (1997)
Published in 日本小児腎臓病学会雑誌 (1997)
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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, Kanako, Kure, Shigeo, Kamada, Fumiaki, Hao, Kiyotaka, Ichinohe, Akiko, Sato, Kenichi, Aoki, Yoko, Yoichi, Suzuki, Kubota, Mitsuru, Horikawa, Reiko, Utsumi, Akiko, Miura, Masayoshi, Ogawa, Shinji, Kanazawa, Masaki, Kohno, Yoichi, Inokuchi, Mikako, Hasegawa, Tomonobu, Narisawa, Kuniaki, Matsubara, Yoichi
Published in Molecular genetics and metabolism (01.04.2004)
Published in Molecular genetics and metabolism (01.04.2004)
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