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Hiroko Tsukamoto

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Masanobu Kawai; Norio Sakai; Susumu Miyake; Hiroko Tsukamoto; Motohiro Akagi; Koji Inui; Sotaro Mushiake; Masako Taniike; Keiichi Ozono
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
T Muramatsu; Norio Sakai; Itaru Yanagihara; Minoru Yamada; Toshinori Nishigaki; Chikara Kokubu; Hiroko Tsukamoto; M Ito; Koji Inui
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
Motohiro Akagi; Koji Inui; Hiroko Tsukamoto; Norio Sakai; Takashi Muramatsu; Minoru Yamada; Kouzi Matsuzaki; Yu-ichi Goto; Ikuya Nonaka; Shintaro Okada
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.

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2006: Masanobu Kawai; Norio Sakai; Susumu Miyake; Hiroko Tsukamoto; Motohiro Akagi; Koji Inui; Sotaro Mushiake; Masako Taniike; Keiichi Ozono
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
Brain & development 2006;28(1):60-2.
2002: T Muramatsu; Norio Sakai; Itaru Yanagihara; Minoru Yamada; Toshinori Nishigaki; Chikara Kokubu; Hiroko Tsukamoto; M Ito; Koji Inui
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
Journal of inherited metabolic disease 2002;25(7):585-92.
2002: Motohiro Akagi; Koji Inui; Hiroko Tsukamoto; Norio Sakai; Takashi Muramatsu; Minoru Yamada; Kouzi Matsuzaki; Yu-ichi Goto; Ikuya Nonaka; Shintaro Okada
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
Neuromuscular disorders : NMD 2002;12(1):53-5.
2001: Koji Inui; Motohiro Akagi; J Ono; Hiroko Tsukamoto; K Shimono; T Mano; K Imai; M Yamada; T Muramatsu; Norio Sakai; Shintaro Okada
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
Brain & development 2001;23(4):212-5.
2000: Koji Inui; Motohiro Akagi; Toshinori Nishigaki; T Muramatsu; Hiroko Tsukamoto; Shintaro Okada
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.
Brain & development 2000;22(1):47-9.
2000: Motohiro Akagi; Koji Inui; Shigeo Nakajima; M Shima; Toshinori Nishigaki; T Muramatsu; Chikara Kokubu; Hiroko Tsukamoto; Norio Sakai; Shintaro Okada
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome.
Journal of human genetics 2000;45(1):60-2.
1999: L Fu; Koji Inui; Toshinori Nishigaki; N Tatsumi; Hiroko Tsukamoto; Chikara Kokubu; T Muramatsu; Shintaro Okada
Molecular heterogeneity of Krabbe disease.
Journal of inherited metabolic disease 1999;22(2):155-62.
1999: Motohiro Akagi; Koji Inui; Toshinori Nishigaki; T Muramatsu; Chikara Kokubu; L Fu; H Fukushima; Itaru Yanagihara; Hiroko Tsukamoto; H Kurahashi; Shintaro Okada
Mutation analysis of a Japanese patient with fucosidosis.
Journal of human genetics 1999;44(5):323-6.
1996: Hiroko Tsukamoto; Koji Inui; H Fukushima; Shintaro Okada
Allele frequencies of intragenic, and 5' and 3' markers of the dystrophin gene in Japanese families afflicted with Duchenne or Becker muscular dystrophy.
The Japanese journal of human genetics 1996;41(4):391-7.
1996: Norio Sakai; Koji Inui; N Tatsumi; H Fukushima; Toshinori Nishigaki; Masako Taniike; J Nishimoto; Hiroko Tsukamoto; Itaru Yanagihara; K Ozono; Shintaro Okada
Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease.
Journal of neurochemistry 1996;66(3):1118-24.
1995: N Tatsumi; Koji Inui; Norio Sakai; H Fukushima; J Nishimoto; Itaru Yanagihara; Toshinori Nishigaki; Hiroko Tsukamoto; L Fu; Masako Taniike
Molecular defects in Krabbe disease.
Human molecular genetics 1995;4(10):1865-8.
1994: Hiroko Tsukamoto; Koji Inui; T Matsuoka; Itaru Yanagihara; H Fukushima; Shintaro Okada
One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients.
Human molecular genetics 1994;3(6):995-6.
1993: Hiroko Tsukamoto; Koji Inui; Shintaro Okada
[Carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy by PCR methods].
Nihon rinsho. Japanese journal of clinical medicine 1993;51(9):2428-34.
1992: K Tada; Masako Taniike; Jiro Ono; Hiroko Tsukamoto; Koji Inui; Shintaro Okada
Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy.
Neuropediatrics 1992;23(6):306-9.
1992: Masako Taniike; H Fukushima; Itaru Yanagihara; Hiroko Tsukamoto; J Tanaka; Harutoshi Fujimura; Toshisaburo Nagai; T Sano; K Yamaoka; Koji Inui
Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.
Biochemical and biophysical research communications 1992;186(1):47-53.
1992: Hiroko Tsukamoto; Koji Inui; Masako Taniike; J Nishimoto; M Midorikawa; T Yoshimine; A Kato; T Ikeda; T Hayakawa; Shintaro Okada
A case of Hallervorden-Spatz disease: progressive and intractable dystonia controlled by bilateral thalamotomy.
Brain & development 1992;14(4):269-72.
1992: Koji Inui; Hiroko Tsukamoto; H Fukushima; Masako Taniike; J Tanaka; Toshinori Nishigaki; Shintaro Okada
Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies.
Journal of inherited metabolic disease 1992;15(3):311-4.
1992: Masako Taniike; Harutoshi Fujimura; Shigetoyo Kogaki; Hiroko Tsukamoto; Koji Inui; M Midorikawa; J Nishimoto; Shintaro Okada
A case of pigmentary type of orthochromatic leukodystrophy with early onset and globoid cells.
Acta neuropathologica 1992;83(4):427-33.
1992: Koji Inui; H Fukushima; Hiroko Tsukamoto; Masako Taniike; M Midorikawa; J Tanaka; Toshinori Nishigaki; Shintaro Okada
Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene.
The Journal of pediatrics 1992;120(1):62-6.
1991: Hiroko Tsukamoto; Koji Inui; H Fukushima; Toshinori Nishigaki; Masako Taniike; J Tanaka; Shintaro Okada
Molecular study of Duchenne and Becker muscular dystrophies in Japanese.
Journal of inherited metabolic disease 1991;14(5):819-24.
1990: Koji Inui; J Nishimoto; Masako Taniike; M Midorikawa; Hiroko Tsukamoto; Shintaro Okada; H Yabuuchi
Study of pathogenesis in twitcher mouse, an enzymatically authentic model of Krabbe's disease.
Journal of the neurological sciences 1990;100(1-2):124-30.
1990: Koji Inui; R Namba; Yasuo Ihara; K Nobukuni; Masako Taniike; M Midorikawa; Hiroko Tsukamoto; Shintaro Okada
A case of chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies.
Journal of neurology 1990;237(8):491-3.
1989: Koji Inui; J Nishimoto; Masako Taniike; M Midorikawa; Hiroko Tsukamoto; Shintaro Okada; H Yabuuchi
Study of pathogenesis in twitcher mouse, an enzymatically authentic model of human Krabbe's disease.
Journal of inherited metabolic disease 1989;12 Suppl 2():383-5.
1989: Masako Taniike; Koji Inui; Y Hirabayashi; Hiroko Tsukamoto; J Nishimoto; M Midorikawa; Shintaro Okada; H Yabuuchi
Immunohistochemical demonstration of GM2-ganglioside in the central nervous system of a 19-week-old fetus of Tay-Sachs disease.
Journal of inherited metabolic disease 1989;12 Suppl 2():372-4.