論  文(原著) 1999年〜1996年

番号 著   者   名
(共著者も記入)
論  文  題  名 発表誌名 初頁〜終頁 発行年
14 Tsukamoto H, Wells DJ, Brown SC, Serpente P, Strong PN, Drew J, Inui K, Okada S, Dickson G Enhanced expression of recombinant dystrophin following intramuscular injection of Epstein-Barr virus(EBV)-based mini-chromosome vectors in mdx mice. Gene Ther 6 1331-1335 1999
15 Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. Hum Genet 105 10-16 1999
16 Akagi M, Inui K, Nishigaki T, Muramatsu T, Kokubu C, Fukushima H, Tsukamoto H, Kurahashi H, Okada S Mutation analysis of a Japanese patient with fucosidosis. J Hum Genet 44 323-326 1999
17 中島 滋郎、志水 信彦、平井治彦、島 雅昭、赤木 幹弘、乾 幸治、岡田 伸太郎 Fanconi-Bickel症候群(糖原病XI型)における腎病変の検討 日本小児腎臓病学会誌 12 131-134 1999
18 松本 小百合、志水 信彦、植田 仁、荒井 洋、神崎 徹、吉峰 俊樹、乾 幸治、中山 雅弘、村田 雄二 胎内で心不全を呈し、出生後遷延性肺高血圧を呈したガレン静脈瘤の1例 日本未熟児新生児学会雑誌 11 71-77 1999
19 Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, Nagai T, Okada S Acase of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 158 106-110 1998
20 Hirono H, Shoji Y, Takahashi T, Sato W, Takeda E, Nishijo T, Kuroda Y, Nishigaki T, Inui K, Takada G Mutational analyses in four Japanese families with X-linked liver phosphory
-lase kinase deficiency type 1.
J Inher Metab Dis 21 846-852 1998
21 Sakai N, Fukushima H, Inui K, Fu L, Nishigaki T, Yanagihara I, Tatsumi N, Ozono K, Okada S Human galactocerebrosidase gene: promoter analysis of the 5, -flanking region and structural organization. Biochem Biophys Acta 1395 62-67 1998
22 Okinaga A, Matsuoka T, Umeda J, Yanagihara I, Inui K, Nagai T, Okada S Early-onset facioscapulohumeral muscular dystrophy: two case reports. Brain Dev 19 563-567 1997
23 Manoj Nanji, Van T Nguyen, Kawasoe J, Inui K ,Endo F, Nakajima T, Anezaki T, Cox D Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet 60 1423-1429 1997
24 Tanaka J, Nagai T, Arai H, Inui K, Yamanouchi H, Goto Y, Nonaka I, Okada S Treatment of mitochondrial encephalomyopathy with a combination of cytochromee C and vitamines B1 and B2. Brain Dev 19 262-267 1997
25 Takiyama N, Itoh K, Shimmmoto M, Nishimoto J, Inui K, Sakuraba H, Suzuki Y Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with GM1 gangliosidosis. Brain Dev 19 126-130 1997
26 Tsukamoto H, Inui K, Fukushima H, Okada S Allele frequencies of intragenic, and 5' and 3' markers of the dystrophin gene in Japanese families of Duchenne or Becker muscular dystrophy. Jpn J Human Genet 41 391-397 1996
27 Kaido M, Fujimura H, Soga F,Toyooka K, Yoshikawa H, Nishimura T, Higashi T, Inui K, Imanishi H, Yorifuji S, Yanagihara T Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta Neuropathol 92 312-318 1996
28 Yanagihara I, Inui K, Dickson G, Turner G, Piper T, Kanada Y, Okada S Expression of full-length human dystrophin cDNA in mdx mouse muscle by HVJ-liposome injection. Gene Ther 3 549-553 1996
29 Sakai N, Inui K, Tatsumi N, Fukushima H, Nishigaki T, Taniike M, Nishimoto J, Tsukamoto H, Yanagihara I, Ozono K, Okada S Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's diseaser. J Neurochem 66 1118-1124 1996
30 垂井 清一郎、岡田伸太郎、乾 幸治、一色 玄、新宅 治夫、貴田 嘉一、戒能 幸一、和田義郎、杉山 幸八郎、大和田 操 肝型糖原病検査における遺伝子組換えグルカゴン(GL-G) の臨床評価 基礎と臨床 30 749-761 1996
31 Tatsumi N, Inui K, Sakai N, Fukushima H, Nishimoto J, Yanagihara I, Nishigaki T, Tsukamoto H, Fu L, Taniike M, Okada S Molecular defects in Krabbe disease Hum Mol Genet 4 1865-1868 1995