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1

Highly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy

Tsuboi, Takashi, Tanaka, Yasuhiro, Yoshida, Yusuke, Nakamura, Tomohiko, Shimozawa, Nobuyuki, Katsuno, Masahisa

Journal:

Journal of the Neurological Sciences

Year:

2017

Language:

english

File:

PDF, 352 KB

english, 2017

2

Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia

Matsuda, Yukiko, Morino, Hiroyuki, Miyamoto, Ryosuke, Kurashige, Takashi, Kume, Kodai, Mizuno, Noriyoshi, Kanaya, Yuhei, Tada, Yui, Ohsawa, Ryosuke, Yokota, Kazunori, Shimozawa, Nobuyuki, Maruyama, Hi

Journal:

Neurology: Genetics

Year:

2020

Language:

english

File:

PDF, 1013 KB

english, 2020

3

Takashi Hashimoto, Professor Emeritus at the Department of Biochemistry, Shinshu University Graduate School of Medicine, Matsumoto, Japan (b 14 March 1933; q 1962 at the University of Tokyo; d 18 April 2019; Japan)

Fukao, Toshiyuki, Yamaguchi, Seiji, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Orii, Tadao, Wanders, Ronald J. A.

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 286 KB

english, 2020

4

PRENATAL DIAGNOSIS OF ADRENOLEUKODYSTROPHY BY MEANS OF MUTATION ANALYSIS

ATSUSHI IMAMURA, YASUYUKI SUZUKI, XIANG-QIAN SONG, TOSHIYUKI FUKAO, NOBUYUKI SHIMOZAWA, TADAO ORII, NAOMI KONDO

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 341 KB

english, 1996

5

Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations

Atsushi Yamagishi, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, Nobuyuki Shimozawa, Yasuyuki Suzuki, Naomi Kondo, Kazuko Sukegawa, Tadao Orii

Journal:

Year:

1996

Language:

english

File:

PDF, 582 KB

english, 1996

6

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

Journal:

Year:

1996

Language:

english

File:

PDF, 1.11 MB

english, 1996

7

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

Journal:

Year:

1997

Language:

english

File:

PDF, 214 KB

english, 1997

8

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

Journal:

Year:

1999

Language:

english

File:

PDF, 425 KB

english, 1999

9

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

Zhongyi Zhang, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 542 KB

english, 2000

10

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

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 79 KB

english, 2003

11

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

Journal:

Year:

1995

Language:

english

File:

PDF, 180 KB

english, 1995

12

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

Journal:

Year:

1998

Language:

english

File:

PDF, 339 KB

english, 1998

13

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

Journal:

Year:

1998

Language:

english

File:

PDF, 497 KB

english, 1998

14

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

Journal:

Year:

2004

Language:

english

File:

PDF, 292 KB

english, 2004

15

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

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

2001

Language:

english

File:

PDF, 137 KB

english, 2001

16

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

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 118 KB

english, 1999

17

Glucose metabolism evaluated by positron emission tomography in Lafora disease

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

Journal:

Pediatrics International

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

18

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

Nobuyuki Shimozawa, Yasuyuki Suzuki, Tadao Orii, Takashi Hashimoto

Journal:

Prenatal Diagnosis

Year:

1988

Language:

english

File:

PDF, 265 KB

english, 1988

19

Prenatal diagnosis of Zellweger syndrome using DNA analysis

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

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 114 KB

english, 1993

20

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

Journal:

Year:

1995

Language:

english

File:

PDF, 1002 KB

english, 1995

21

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

Journal:

Year:

1995

Language:

english

File:

PDF, 403 KB

english, 1995

22

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

Journal:

Year:

1989

Language:

english

File:

PDF, 250 KB

english, 1989

23

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

Journal:

Year:

1992

Language:

english

File:

PDF, 2.25 MB

english, 1992

24

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

Journal:

Year:

1995

Language:

english

File:

PDF, 1.10 MB

english, 1995

25

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

Journal:

Year:

1994

Language:

english

File:

PDF, 775 KB

english, 1994

26

Incidence of peroxisomal disorders in Japan

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

Journal:

Journal of Human Genetics

Year:

1996

Language:

english

File:

PDF, 465 KB

english, 1996

27

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

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 356 KB

english, 2005

28

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

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 281 KB

english, 1999

29

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

Journal:

Year:

2011

Language:

english

File:

PDF, 327 KB

english, 2011

30

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

Journal:

Digestive Diseases and Sciences

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

31

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

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 434 KB

english, 1997

32

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

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 571 KB

english, 1997

33

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

Journal:

Pediatrics International

Year:

1998

Language:

english

File:

PDF, 1013 KB

english, 1998

34

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

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 1011 KB

english, 2007

35

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

Journal:

Year:

1997

Language:

english

File:

PDF, 729 KB

english, 1997

36

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

Journal:

Year:

2006

Language:

english

File:

PDF, 782 KB

english, 2006

37

Peroxisomal Disorders: Clinical Aspects

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

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 424 KB

english, 1996

38

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

Journal:

Nature Genetics

Year:

1995

File:

PDF, 908 KB

1995

39

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

Journal:

Cell Biochemistry and Biophysics

Year:

2000

Language:

english

File:

PDF, 138 KB

english, 2000

40

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

Journal:

Cell Biochemistry and Biophysics

Year:

2000

Language:

english

File:

PDF, 297 KB

english, 2000

41

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

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2005

Language:

english

File:

PDF, 820 KB

english, 2005

42

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

Journal:

Brain and Development

Year:

2005

Language:

english

File:

PDF, 109 KB

english, 2005

43

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

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

44

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

Izumi Kuratsubo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Naomi Kondo

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

45

Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases

Nobuyuki Shimozawa

Journal:

Brain and Development

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

46

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,

Journal:

Brain and Development

Year:

2003

Language:

english

File:

PDF, 288 KB

english, 2003

47

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

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

Journal:

Brain and Development

Year:

2003

Language:

english

File:

PDF, 154 KB

english, 2003

48

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

Yasuyuki SUZUKI, Nobuyuki SHIMOZAWA, Tadao ORII

Journal:

Congenital Anomalies

Year:

1995

Language:

english

File:

PDF, 2.07 MB

english, 1995

49

Chediak-Higashi syndrome with cerebellar cortical atrophy detected by MRI

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

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 120 KB

english, 1994

50

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

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 463 KB

english, 1996