論文（原著）２００２年〜１９９９年　　　　

番号 著　　　者　　　名
（共著者も記入）		 論　　文　　題　　名 発表誌名 巻 初頁〜終頁 発行年
1 Akagi M, Inui K, Tsukamoto H,
Sakai N, Muramatsu T, Yamada M,
Matsuzaki K, GotoY, Nonaka I, Okada S		 A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome Neuromuscul Disord 12 53-55 2002
2 Yanagihara I, Inui K, Yanagihara K, Boku E, Tanaka J, Ozono K, Okada S FISH analysis of peripheral blood cells in Pearson marrow-pancreas syndrome. J Pediatr 139 452-455 2001
3 Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S Mutation analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain Dev 23 212-215 2001
4 Tsukamoto H, Yamamoto T, Nishigaki T, Sakai N, Nanba E, Ninomiya H, Ohno K, Inui K, Okada S SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C Prenat Diag 21 55-57 2001
5 Inui K, Yanagihara K, Otani K, Suzuki Y, Akagi M, Nakayama M, Ida H, Okada S A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickning of spleen and liver capsules J Pediatr 138 137-139 2001
6 Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings. Brain Dev 22 47-49 2000
7 Akagi M, Inui K, Nakajima S, Shima　 Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. J Hum Genet 45 60-62 2000
8 Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. Am J Med Genet 91 107-112 2000
9 峠　哲男、鴨田　匡史、池口　方子、佐々木　岩雄、塚口　真砂、竹内　博明、村松　岳、乾　幸治 皮質反射性ミオクローヌスを呈するガラクトシアリドーシス症例の電気生理 臨床脳波 42 196-200 2000
10 服部　憲明、西垣　敏紀、乾　幸治、階堂　三砂子、西村　友也、狭間　敬憲、中田　俊士 下腿の筋肥大をともなう思春期発症の脊髄性筋萎縮症の１例 臨床神経学 40 170-173 2000
11 Fu L, Inui K, Nishigaki T, Tatsumi N, Tsukamoto H, Kokubu C, Muramatsu T, Okada S Molecular heterogeneity of Krabbe disease. J Inher Metab Dis 22 155-162 1999
12 Inui K, Miyagawa H, Sashihara J, Miyoshi H, Tanaka-Taya K, Nishigaki T, Teraoka S, Mano T, Ono J, Okada S Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with HIV infection. Brain Dev 21 416-419 1999
13 Hattori N, Kaido M, Nishigaki T, Inui K, Fujimura H, Nishiura T, Naka T, Hazama T Undetectable dystrophin can still result in a relatively benign phenotype of　dystrophinopathy. Neuromuscul Disord 9 220-226 1999