NOBUYUKI SHIMOZAWA: шукати на сайті Z-Library

Рік:

1996

Мова:

english

Файл:

PDF, 582 KB

english, 1996

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease

Seiji Fukuda, Shunji Tomatsu, Mitsuo Masuno, Tatsuya Ogawa, Atsushi Yamagishi, Golam Md. Maruf Rezvi, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Kiyoshi Imaizumi, Yoshikazu Kur

Журнал:

Рік:

1996

Мова:

english

Файл:

PDF, 1.11 MB

english, 1996

Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele

Kazuko Sukegawa, Xiang-Qian Song, Mitsuo Masuno, Toshiyuki Fukao, Nobuyuki Shimozawa, Seiji Fukuda, Koji Isogai, Hisahide Nishio, Masafumi Matsuo, Shunji Tomatsu, Naomi Kondo, Tadao Orii

Журнал:

Рік:

1997

Мова:

english

Файл:

PDF, 214 KB

english, 1997

Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Fukuda, Atsushi Imamura, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Tadao Orii, Ronald J.A. Wanders, Peter G. Barth, Hugo W. Moser, Barba

Журнал:

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo

Рік:

1999

Мова:

english

Файл:

PDF, 425 KB

english, 1999

Rapid diagnosis of peroxisome biogenesis disorders through immunofluorescence staining of buccal smears

Журнал:

Annals of Neurology

Рік:

2000

Мова:

english

Файл:

PDF, 542 KB

english, 2000

Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: Evidence for a founder haplotype for the most common PEX10 gene mutation

Nobuyuki Shimozawa, Tomoko Nagase, Yasuhiko Takemoto, Toshihiro Ohura, Yasuyuki Suzuki, Naomi Kondo

Журнал:

American Journal of Medical Genetics Part A

Рік:

2003

Мова:

english

Файл:

PDF, 79 KB

english, 2003

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Naoto Yamada, Kouji Isogai, Zenichiro Kato, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii

Журнал:

Рік:

1995

Мова:

english

Файл:

PDF, 180 KB

english, 1995

Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease

Dr. Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Atsushi Yamagishi, Zenichiro Kato, Naoto Yamada, Kouji Isogai, Kazuko Sukegawa, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo, Tadao

Журнал:

Рік:

1998

Мова:

english

Файл:

PDF, 339 KB

english, 1998

A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome

Nobuyuki Shimozawa, Yasuyuki Suzuki, Shunji Tomatsu, Hiroshige Nakamura, Toshio Kono, Humio Takada, Toshiro Tsukamoto, Yukio Fujiki, Tadao Orii, Naomi Kondo

Журнал:

Рік:

1998

Мова:

english

Файл:

PDF, 497 KB

english, 1998

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

Nobuyuki Shimozawa, Toshiro Tsukamoto, Tomoko Nagase, Yasuhiko Takemoto, Naoki Koyama, Yasuyuki Suzuki, Masayuki Komori, Takashi Osumi, Gootjes Jeannette, Ronald J.A. Wanders, Naomi Kondo

Журнал:

Journal of Chromatography B: Biomedical Sciences and Applications

Рік:

2004

Мова:

english

Файл:

PDF, 292 KB

english, 2004

Urinary organic acids in peroxisomal disorders: a simple screening method

Seiji Yamaguchi, Misako Iga, Masahiko Kimura, Yasuyuki Suzuki, Nobuyuki Shimozawa, Toshiyuki Fukao, Naomi Kondo, Yusaku Tazawa, Tadao Orii

Журнал:

Рік:

2001

Мова:

english

Файл:

PDF, 137 KB

english, 2001

Prenatal diagnosis of peroxisome biogenesis disorders by means of immunofluorescence staining of cultured chorionic villous cells

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Ichiro Kawabata, Teruhiko Tamaya, Kodo Sato, Naomi Kondo

Журнал:

Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Takashi Hashimoto

Рік:

1999

Мова:

english

Файл:

PDF, 118 KB

english, 1999

Glucose metabolism evaluated by positron emission tomography in Lafora disease

ZENICHIRO Kato, KANJI Yasuda, KAZUNARI Ishii, HAJIME Takagi, SHINJI Mizuno, NOBUYUKI Shimozawa, NAOMI Kondo

Журнал:

Pediatrics International

Рік:

1999

Мова:

english

Файл:

PDF, 107 KB

english, 1999

Immunoblot detection of enzyme proteins of peroxisomal β-oxidation in fibroblasts, amniocytes, and chorionic villous cells. Possible marker for prenatal diagnosis of Zellweger's syndrome

Журнал:

Prenatal Diagnosis

Рік:

1988

Мова:

english

Файл:

PDF, 265 KB

english, 1988

Prenatal diagnosis of Zellweger syndrome using DNA analysis

Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Toshiro Tsukamoto, Yukio Fujiki

Журнал:

Prenatal Diagnosis

Рік:

1993

Мова:

english

Файл:

PDF, 114 KB

english, 1993

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Atsushi Uchiyama, Toshinori Hori, Yoshinori Nakashima, Naoto Yamada, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tada

Журнал:

Рік:

1995

Мова:

english

Файл:

PDF, 1002 KB

english, 1995

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or byStyI andStuI cleavages

Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, Toshinori Hori, Yoshinori Nakashima, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Tadao Orii

Журнал:

Рік:

1995

Мова:

english

Файл:

PDF, 403 KB

english, 1995

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

Kenji Naritomi, Yoshinori Izumikawa, Satoshi Ohshiro, Kaoru Yoshida, Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Kiyotake Hirayama

Журнал:

Рік:

1989

Мова:

english

Файл:

PDF, 250 KB

english, 1989

Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

Shigehiro Yajima, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Yamaguchi, Tadao Orii, Yukio Fujiki, Takashi Osumi, Takashi Hashimoto, Hugo W. Moser

Журнал:

Рік:

1992

Мова:

english

Файл:

PDF, 2.25 MB

english, 1992

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

Hideki Iwata, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, G. M. M. Rezvi, Tatsuya Ogawa, Toshinori Hori, Yoshihiro Nakashima, Atsushi Yamagishi, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuk

Журнал:

Journal of Human Genetics

Рік:

1995

Мова:

english

Файл:

PDF, 1.10 MB

english, 1995

Proliferative responses towards native, heat-denatured and pepsin-treated ovalbumin by peripheral blood mononuclear cells from patients with hen's egg-sensitive atopic dermatitis

Takashi Nishida, Naomi Kondo, Hiroatsu Agata, Osamu Fukutomi, Shinji Shinoda, Yasuyuki Suzuki, Nobuyuki Shimozawa, Shunji Tomatsu, Tadao Orii

Журнал:

Biotherapy

Рік:

1994

Мова:

english

Файл:

PDF, 775 KB

english, 1994

Incidence of peroxisomal disorders in Japan

Yasuyuki Suzuki, Nobuyuki Shimozawa, Shigehiro Yajima, Kyoko Inoue, Tadao Orii, Naomi Kondo

Журнал:

Рік:

1996

Мова:

english

Файл:

PDF, 465 KB

english, 1996

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Tomomi Kato, Zenichiro Kato, Izumi Kuratsubo, Noboru Tanaka, Tabito Ishigami, Jun-ichi Kajihara, Kazuko Sukegawa-Hayasaka, Koji Orii, Koji Isogai, Toshiyuki Fukao, Nobuyuki Shimozawa, Tadao Orii, Naom

Журнал:

Journal of Human Genetics

Рік:

2005

Мова:

english

Файл:

PDF, 356 KB

english, 2005

Prenatal diagnosis of peroxisomald-3-hydroxyacyl-CoA dehydratase /d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency

Y. Suzuki, Zhongyi Zhang, Nobuyuki Shimozawa, Masami Muro, Hideaki Shono, Shuji Toda, Shin-ichi Miyahara, Takashi Hashimoto, Nobuteru Usuda, Masayuki Ito, Sachio Takashima, Naomi Kondo

Журнал:

Journal of Human Genetics

Рік:

1999

Мова:

english

Файл:

PDF, 281 KB

english, 1999

Identification of novel SNPs ofABCD1,ABCD2,ABCD3, andABCD4genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Takashi Matsukawa, Muriel Asheuer, Yuji Takahashi, Jun Goto, Yasuyuki Suzuki, Nobuyuki Shimozawa, Hiroki Takano, Osamu Onodera, Masatoyo Nishizawa, Patrick Aubourg, Shoji Tsuji

Журнал:

neurogenetics

Рік:

2011

Мова:

english

Файл:

PDF, 327 KB

english, 2011

A Comparative Study on Endoscopic Ulcer Healing of Omeprazole Versus Rabeprazole with Respect to CYP2C19 Genotypic Differences

Takashi Ando, Haruki Kato, Naohito Sugimoto, Yasuyuki Nagao, Nobuyuki Seto, Hitoshi Hongo, Hirokazu Kajikawa, Yutaka Isozaki, Makoto Shimozawa, Yuji Naito, Norimasa Yoshida, Takashi Ishizaki, Toshikaz

Журнал:

Digestive Diseases and Sciences

Рік:

2005

Мова:

english

Файл:

PDF, 292 KB

english, 2005

Marinesco-Sjögren syndrome associated with acute mveloblastic leukemia

Seiji Fukuda, Yukiji Yamada, Masaaki Nishimura, Koji Isogai, Tomonori Terada, Masako Iwata, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo

Журнал:

Рік:

1997

Мова:

english

Файл:

PDF, 434 KB

english, 1997

Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients

Atsushi Imamura, Yasuyuki Suzuki, Xiang-Qian Song, Toshiyuki Fukao, Atsushi Uchiyama, Nobuyuki Shimozawa, Keiju Kamijo, Takashi Hashimoto, Tadao Orii, Naomi Kondo

Журнал:

Journal of Neurochemistry

Рік:

1997

Мова:

english

Файл:

PDF, 571 KB

english, 1997

Magnetic resonance imaging of acute cerebellar ataxia: Report of a case with gadolinium enhancement and review of the literature

Zenichiro Kato, Nobuyuki Shimozawa, Joji Kokuzawa, Makoto Iwamura, Toshihumi Hirata, Atsushi Yamagishi, Terue Hayashi, Tsutomu Motoyoshi, Naomi Kondo

Журнал:

Pediatrics International

Рік:

1998

Мова:

english

Файл:

PDF, 1013 KB

english, 1998

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations

Norimasa Takahashi, Masashi Morita, Takanori Maeda, Yuta Harayama, Nobuyuki Shimozawa, Yasuyuki Suzuki, Hirokazu Furuya, Ryuichiro Sato, Yoshinori Kashiwayama, Tsuneo Imanaka

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 1011 KB

english, 2007

Epilepsy in Peroxisomal Diseases

Yukitoshi Takahashi, Yasuyuki Suzuki, Kaori Kumazaki, Yuzo Tanabe, Shinjiro Akaboshi, Kiyokuni Miura, Nobuyuki Shimozawa, Naomi Kondo, Toshihiro Nishiguchi, Kihei Terada, Tadao Orii

Журнал:

Epilepsia

Рік:

1997

Мова:

english

Файл:

PDF, 729 KB

english, 1997

The common phospholipid-binding activity of the N-terminal domains of PEX1 and VCP/p97

Kumiko Shiozawa, Natsuko Goda, Toshiyuki Shimizu, Kenji Mizuguchi, Naomi Kondo, Nobuyuki Shimozawa, Masahiro Shirakawa, Hidekazu Hiroaki

Журнал:

FEBS Journal

Рік:

2006

Мова:

english

Файл:

PDF, 782 KB

english, 2006

Peroxisomal Disorders: Clinical Aspects

YASUYUKI SUZUKI, NOBUYUKI SHIMOZAWA, YUKITOSHI TAKAHASHI, ATSUSHI IMAMURA, NAOMI KONDO, TADAO ORII

Журнал:

Annals of the New York Academy of Sciences

Рік:

1996

Мова:

english

Файл:

PDF, 424 KB

english, 1996

Peroxisome assembly factor–2, a putative ATPase cloned by functional complementation on a peroxisome–deficient mammalian cell mutant

Tsukamoto, Toshiro, Miura, Satoshi, Nakai, Toshiki, Yokota, Sadaki, Shimozawa, Nobuyuki, Suzuki, Yasuyuki, Orii, Tadao, Fujiki, Yukio, Sakai, Fumie, Bogaki, Akemi

Журнал:

Nature Genetics

Рік:

1995

Файл:

PDF, 908 KB

1995

Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders

Takashi Osumi, Atsushi Imamura, Toshiro Tsukamoto, Chiharu Fujivara, Noriho Hashiguchi, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo

Журнал:

Cell Biochemistry and Biophysics

Рік:

2000

Мова:

english

Файл:

PDF, 138 KB

english, 2000

Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice

Takeshi Yamada, Nobue Shinnoh, Akira Kondo, Atsushi Uchiyama, Nobuyuki Shimozawa, Jun-ichi Kira, Takuro Kobayashi

Журнал:

Cell Biochemistry and Biophysics

Рік:

2000

Мова:

english

Файл:

PDF, 297 KB

english, 2000

Role of Pex19p in the targeting of PMP70 to peroxisome

Yoshinori Kashiwayama, Kota Asahina, Hiroyuki Shibata, Masashi Morita, Ania C. Muntau, Adelbert A. Roscher, Ronald J.A. Wanders, Nobuyuki Shimozawa, Masao Sakaguchi, Hiroaki Kato, Tsuneo Imanaka

Журнал:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Рік:

2005

Мова:

english

Файл:

PDF, 820 KB

english, 2005

Natural history of X-linked adrenoleukodystrophy in Japan

Yasuyuki Suzuki, Yasuhiko Takemoto, Nobuyuki Shimozawa, Tsuneo Imanaka, Shunichi Kato, Hirokazu Furuya, Makiko Kaga, Koji Kato, Naohiro Hashimoto, Osamu Onodera, Shoji Tsuji

Журнал:

Рік:

2005

Мова:

english

Файл:

PDF, 109 KB

english, 2005

Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies

Michinori Funato, Nobuyuki Shimozawa, Tomoko Nagase, Yasuhiko Takemoto, Yasuyuki Suzuki, Yoshihiko Imamura, Tadashi Matsumoto, Toshiro Tsukamoto, Tomoko Kojidani, Takashi Osumi, Toshiyuki Fukao, Naomi

Журнал:

Izumi Kuratsubo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo

Рік:

2006

Мова:

english

Файл:

PDF, 366 KB

english, 2006

Parents of childhood X-linked adrenoleukodystrophy: High risk for depression and neurosis

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 164 KB

english, 2008

Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases

Nobuyuki Shimozawa

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 388 KB

english, 2011

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L

Naohide Shiroma, Naomi Kanazawa, Zenichiro Kato, Nobuyuki Shimozawa, Atsushi Imamura, Masayuki Ito, Kyoich Ohtani, Akira Oka, Kazuyo Wakabayashi, Mizue Iai, Kenji Sugai, Masayuki Sasaki, Makiko Kaga,

Журнал:

Yasuhiko Takemoto, Yasuyuki Suzuki, Ryoko Horibe, Nobuyuki Shimozawa, Ronald J.A. Wanders, Naomi Kondo

Рік:

2003

Мова:

english

Файл:

PDF, 288 KB

english, 2003

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

Журнал:

Yasuyuki SUZUKI, Nobuyuki SHIMOZAWA, Tadao ORII

Рік:

2003

Мова:

english

Файл:

PDF, 154 KB

english, 2003

Inborn Errors of Peroxisome Biogenesis and Brain Malformation: Clinical and Biochemical Studies

Журнал:

Congenital Anomalies

Рік:

1995

Мова:

english

Файл:

PDF, 2.07 MB

english, 1995

Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI

Naomi Kondo, Nobuyuki Shimozawa, Junichi Asano, Atsushi Imamura, Tadao Orii

Журнал:

Рік:

1994

Мова:

english

Файл:

PDF, 120 KB

english, 1994

Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation

Kyoko Inoue, Yasuyuki Suzuki, Shigehiro Yajima, Nobuyuki Shimozawa, Shunji Tomatsu, Tadao Orii, Naomi Kondo

Журнал: