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1

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Kawazoe, Tomoya, Yamamoto, Toshiyuki, Narita, Aya, Ohno, Kousaku, Adachi, Kaori, Nanba, Eiji, Noguchi, Atsuko, Takahashi, Tsutomu, Maekawa, Masamitsu, Eto, Yoshikatsu, Ogawa, Masafumi, Murata, Miho, T

Journal:

Year:

2018

Language:

english

File:

PDF, 1.76 MB

english, 2018

2

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison with N-(n-nonyl)Deoxynojirimycin

Zhuo Luan, Katsumi Higaki, Matilde Aguilar-Moncayo, Haruaki Ninomiya, Kousaku Ohno, M. Isabel García-Moreno, Carmen Ortiz Mellet, José M. García Fernández, Yoshiyuki Suzuki

Journal:

Year:

2009

Language:

english

File:

PDF, 482 KB

english, 2009

3

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation

Jian-Hua Feng, Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya, Akira Oka, Kousaku Ohno

Journal:

Year:

2004

Language:

english

File:

PDF, 1005 KB

english, 2004

4

Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia

Hesham Montassir, Yoshihiro Maegaki, Kousaku Ohno, Kaeko Ogura

Journal:

Epilepsy Research

Year:

2010

Language:

english

File:

PDF, 1.24 MB

english, 2010

5

Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18

Akihiro Kurimasa, Kousaku Ohno, Mitsuo Oshimura

Journal:

Year:

1993

Language:

english

File:

PDF, 1.37 MB

english, 1993

6

Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs)

Chitose Sugiura, Hajime Miyata, Manami Ueda, Eisaku Ohama, Harry V. Vinters, Kousaku Ohno

Journal:

Year:

2008

Language:

english

File:

PDF, 1.06 MB

english, 2008

7

Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning

Akiko Kondo, Yoshiaki Saito, Ayumi Seki, Chitose Sugiura, Yoshihiro Maegaki, Yusuke Nakayama, Keiichi Yagi, Kousaku Ohno

Journal:

Brain and Development

Year:

2007

Language:

english

File:

PDF, 257 KB

english, 2007

8

Neural substrates of sarcasm: A functional magnetic-resonance imaging study

Hitoshi Uchiyama, Ayumi Seki, Hiroko Kageyama, Daisuke N. Saito, Tatsuya Koeda, Kousaku Ohno, Norihiro Sadato

Journal:

Year:

2006

Language:

english

File:

PDF, 722 KB

english, 2006

9

Orexin neuronal circuitry: Role in the regulation of sleep and wakefulness

Kousaku Ohno, Takeshi Sakurai

Journal:

Frontiers in Neuroendocrinology

Year:

2008

Language:

english

File:

PDF, 813 KB

english, 2008

10

Distinction between the literal and intended meanings of sentences: A functional magnetic resonance imaging study of metaphor and sarcasm

Hitoshi T. Uchiyama, Daisuke N. Saito, Hiroki C. Tanabe, Tokiko Harada, Ayumi Seki, Kousaku Ohno, Tatsuya Koeda, Norihiro Sadato

Journal:

Year:

2012

Language:

english

File:

PDF, 1.42 MB

english, 2012

11

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

Hayashida, Takuya, Saito, Yoshiaki, Ishii, Atsushi, Hirose, Shinichi, Hiraiwa, Rika, Maegaki, Yoshihiro, Ohno, Kousaku

Journal:

Brain and Development

Year:

2018

Language:

english

File:

PDF, 888 KB

english, 2018

12

SOUND-RADIATION ANALYSIS FOR DESIGN OF A LOW-NOISE GEARBOX WITH A MULTI-STAGE HELICAL GEAR SYSTEM

Tanaka, Eiichirou, Houjoh, Haruo, Mutoh, Daisuke, Ohno, Kousaku, Tanaka, Naoyuki

Journal:

The Proceedings of the International Conference on Motion and Vibration Control

Year:

2002

Language:

english

File:

PDF, 828 KB

english, 2002

13

New autosomal-recessive syndrome of leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis

Ehara, Hiroaki, Nakano, Chizuko, Ohno, Kousaku, Goto, Yu-Ichi, Takeshita, Kenzo

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.45 MB

english, 1997

14

Ataxia-telangiectasia without immunodeficiency: Novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain

Toyoshima, Mitsuo, Hara, Toshiro, Zhang, Haidi, Yamamoto, Toshiyuki, Akaboshi, Shinjiro, Nanba, Eiji, Ohno, Kousaku, Hori, Naohiro, Sato, Kenzo, Takeshita, Kenzo

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 143 KB

english, 1998

15

NovelTSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst

Zhang, Haidi, Yamamoto, Toshiyuki, Nanba, Eiji, Kitamura, Yukisato, Terada, Tadashi, Akaboshi, Shinjirou, Yuasa, Isao, Ohtani, Kyoichi, Nakamoto, Shu, Takeshita, Kenzo, Ohno, Kousaku

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 128 KB

english, 1999

16

SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C

Hiroko Tsukamoto, Toshiyuki Yamamoto, Toshinori Nishigaki, Norio Sakai, Eiji Nanba, Haruaki Ninomiya, Kousaku Ohno, Koji Inui, Shintaro Okada

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 94 KB

english, 2001

17

Two novel serine repeat length polymorphisms (1043insS and 1043inssS) at exon 23 of the TSC1 gene

Judy R. Pipo, Toshiyuki Yamamoto, Hiromasa Takeda, Shinji Maegawa, Eiji Nanba, Haruaki Ninomiya, Kousaku Ohno, Kenzo Takeshita

Journal:

Year:

2000

Language:

english

File:

PDF, 14 KB

english, 2000

18

Martsolf syndrome in Japanese siblings

Hiroaki Ehara, Yasushi Utsunomiya, Atsushi Ieshima, Yoshihiro Maegaki, Gen Nishimura, Kenzo Takeshita, Kousaku Ohno

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 175 KB

english, 2007

19

Live birth prevalence of Down syndrome in Tottori, Japan, 1980–1999

Ariko Takeuchi, Hiroaki Ehara, Kyoichi Ohtani, Yoshihiro Maegaki, Yukiko Nanba, Ikuo Nagata, Mitsuo Toyoshima, Akiko Kondo, Shoji Nakai, Kenzo Takeshita, Kousaku Ohno

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

20

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

Keiko Shimojima, Bertrand Isidor, Cédric Le Caignec, Akiko Kondo, Shinji Sakata, Kousaku Ohno, Toshiyuki Yamamoto

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.01 MB

english, 2011

21

Corrigendum to “A New Microdeletion Syndrome of 5q31.3 Characterized by Severe Developmental Delays, Distinctive Facial Features, and Delayed Myelination”

Keiko Shimojima, Bertrand Isidor, Cédric Le Caignec, Akiko Kondo, Shinji Sakata, Kousaku Ohno, Toshiyuki Yamamoto

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

22

Niemann–Pick type C disease: Accelerated neurofibrillary tangle formation and amyloid β deposition associated with apolipoprotein E ε4 homozygosity

Yuko Saito, Kinuko Suzuki, Eiji Nanba, Toshiyuki Yamamoto, Kousaku Ohno, Shigeo Murayama

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.39 MB

english, 2002

23

A new point mutation within exon 5 of β-hexosaminidase α gene in a Japanese infant with Tay-Sachs disease

Takeshi Nakano, Eiji Nanba, Akemi Tanaka, Kousaku Ohno, Yoshiyuki Suzuki, Kunihiko Suzuki

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 1.59 MB

english, 1990

24

A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies

Dr. Zhuo Luan , Dr. Katsumi Higaki, Dr. Matilde Aguilar-Moncayo, Linjing Li, Prof. Haruaki Ninomiya, Prof. Eiji Nanba, Prof. Kousaku Ohno, Dr. M. Isabel García-Moreno, Prof. Carmen Ortiz Mellet, Prof

Journal:

Year:

2010

Language:

english

File:

PDF, 1.18 MB

english, 2010

25

A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral β-glucocerebrosidases

Yasuhiro Hayashi, Kouta Zama, Eriko Abe, Nozomu Okino, Takehiko Inoue, Kousaku Ohno, Makoto Ito

Journal:

Analytical Biochemistry

Year:

2008

Language:

english

File:

PDF, 254 KB

english, 2008

26

Spontaneous remission of infantile spasms and hypsarrhythmia following acute infection with high-grade fever

Chitose Sugiura, Yoshihiro Maegaki, Hiroko Kure, Takehiko Inoue, Kousaku Ohno

Journal:

Epilepsy Research

Year:

2007

Language:

english

File:

PDF, 874 KB

english, 2007

27

Genomic copy number variations at 17p13.3 and epileptogenesis

Keiko Shimojima, Chitose Sugiura, Hiroka Takahashi, Mariko Ikegami, Yukitoshi Takahashi, Kousaku Ohno, Mari Matsuo, Kayoko Saito, Toshiyuki Yamamoto

Journal:

Epilepsy Research

Year:

2010

Language:

english

File:

PDF, 1.28 MB

english, 2010

28

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line

Jun Tohyama, Eiji Nanba, Kousaku Ohno

Journal:

Year:

1994

Language:

english

File:

PDF, 1.07 MB

english, 1994

29

Patients with tuberous sclerosis have fibroblasts with normal limits for growth characteristics and sensitivities to DNA alkylating agents

Kousaku Ohno, Kenzo Takeshita

Journal:

Journal of Human Genetics

Year:

1984

Language:

english

File:

PDF, 728 KB

english, 1984

30

Cytotoxicity of lectins toward skin fibroblasts from patients with Duchenne muscular dystrophy and myotonic dystrophy

Kousaku Ohno, Chizuko Nakano, Shougo Ishii, Kenzo Takeshita

Journal:

Journal of Human Genetics

Year:

1986

Language:

english

File:

PDF, 409 KB

english, 1986

31

Cytoskeletal F-actin patterns in skin fibroblasts from normal subjects and patients with tuberous sclerosis and von recklinghausen's neurofibromatosis

Kousaku Ohno, Sachio Takashima, Kenzo Takeshita

Journal:

Journal of Human Genetics

Year:

1985

Language:

english

File:

PDF, 657 KB

english, 1985

32

Reduced sensitivity of Niemann-Pick

Yuki Ohsaki, Yuko Sugimoto, Michitaka Suzuki, Toshiyuki Kaidoh, Yukiko Shimada, Yoshiko Ohno-Iwashita, JoannaP. Davies, YiannisA. Ioannou, Kousaku Ohno, Haruaki Ninomiya

Journal:

Histochemistry and Cell Biology

Year:

2004

Language:

english

File:

PDF, 1.40 MB

english, 2004

33

A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C

S. Akaboshi, Tamami Yano, Shigeki Miyawaki, Kousaku Ohno, Kenzo Takeshita

Journal:

Year:

1997

Language:

english

File:

PDF, 111 KB

english, 1997

34

Malignant pheochromocytoma associated with pseudo-obstruction of the colon

Soichi Murakami, Shun-ichi Okushiba, Koichi Ohno, Kiyotaka Ito, Kousaku Satou, Hiroshi Sugiura, Toshiaki Morikawa, Koji Furukawa, Satoshi Kondo, Hiroyuki Katoh, Kazuyoshi Nihei

Journal:

Journal of Gastroenterology

Year:

2003

Language:

english

File:

PDF, 315 KB

english, 2003

35

Structural basis of the GM2 gangliosidosis B variant

Fumiko Matsuzawa, Sei-ichi Aikawa, Hitoshi Sakuraba, HoangThiNgoc Lan, Akemi Tanaka, Kousaku Ohno, Yuko Sugimoto, Haruaki Ninomiya, Hirofumi Doi

Journal:

Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.06 MB

english, 2003

36

Variable Radiosensitivity in Fibroblasts from Patients with Tuberous Sclerosis.

Hayashi, Akiko, Yoshida, Yutaka, Tanaka, Harumi, Arima, Masataka, Ohno, Kousaku

Journal:

The Journal of Investigative Dermatology

Year:

1985

File:

PDF, 819 KB

1985

37

Immunohistochemical expression of fibroblast growth factor-2 in developing human cerebrum and epilepsy-associated malformations of cortical development

Manami Ueda, Chitose Sugiura, Kousaku Ohno, Akiyoshi Kakita, Akira Hori, Eisaku Ohama, Harry V. Vinters, Hajime Miyata

Journal:

Year:

2011

Language:

english

File:

PDF, 1.31 MB

english, 2011

38

Late-onset, unusual neurological symptoms in children with mycoplasma infection

Yoshiaki Saito, Hiroko Kure-Kageyama, Yuko Saito-Sakurai, Madoka Shiota, Atsushi Yokoyama, Susumu Kusunoki, Yoshihiro Maegaki, Kousaku Ohno

Journal:

Pediatrics International

Year:

2009

Language:

english

File:

PDF, 222 KB

english, 2009

39

Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

Hiroaki Ehara, Kousaku Ohno, Hisao Ito

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 122 KB

english, 2011

40

A Point Mutation in the Coding Sequence of the β-Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2-Gangliosidosis Variant

Takeshi Nakano, Michele Muscillo, Kousaku Ohno, Andrew J. Hoffman, Kunihiko Suzuki

Journal:

Journal of Neurochemistry

Year:

1988

Language:

english

File:

PDF, 398 KB

english, 1988

41

Mutation in GM2-Gangliosidosis B1 Variant

Kousaku Ohno, Kunihiko Suzuki

Journal:

Journal of Neurochemistry

Year:

1988

Language:

english

File:

PDF, 349 KB

english, 1988

42

Lysosulfatide (Sulfogalactosylsphingosine) Accumulation in Tissues from Patients with Metachromatic Leukodystrophy

Ken-Ichi Toda, Takuro Kobayashi, Ikuo Goto, Kousaku Ohno, Yoshikatsu Eto, Koji Inui, Shintaro Okada

Journal:

Journal of Neurochemistry

Year:

1990

Language:

english

File:

PDF, 693 KB

english, 1990

43

Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses

Takuro Kobayashi, Ikuo Goto, Shintaro Okada, Tadao Orii, Kousaku Ohno, Takeshi Nakano

Journal:

Journal of Neurochemistry

Year:

1992

Language:

english

File:

PDF, 719 KB

english, 1992

44

Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone

Ayumi Takamura, Katsumi Higaki, Haruaki Ninomiya, Tomoko Takai, Junichiro Matsuda, Masami Iida, Kousaku Ohno, Yoshiyuki Suzuki, Eiji Nanba

Journal:

Journal of Neurochemistry

Year:

2011

Language:

english

File:

PDF, 910 KB

english, 2011

45

Magnetoencephalography in Patients with Tuberous Sclerosis and Localization-related Epilepsy

Takanori Kamimura, Jun Tohyama, Makoto Oishi, Noriyuki Akasaka, Osamu Kanazawa, Mutsuo Sasagawa, Mitsuhiro Kato, Kousaku Ohno, Hiroshi Masuda, Shigeki Kameyama, Makoto Uchiyama

Journal:

Year:

2006

Language:

english

File:

PDF, 277 KB

english, 2006

46

Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm)

Kazuhiko Watabe, Hiroyuki Ida, Keiko Uehara, Kiyomitsu Oyanagi, Tsuyoshi Sakamoto, Junichi Tanaka, William S. Garver, Shigeki Miyawaki, Kousaku Ohno, Yoshikatsu Eto

Journal:

Journal of the Peripheral Nervous System

Year:

2001

Language:

english

File:

PDF, 1.36 MB

english, 2001

47

Development of diffuse alopecia with psoriasis-like eruptions during administration of infliximab for Crohn's disease

Kousaku Kawashima, Shunji Ishihara, Akiko Yamamoto, Yasuhiko Ohno, Kosuke Fukuda, Koji Onishi, Yoshikazu Kinoshita

Journal:

Inflammatory Bowel Diseases

Year:

2012

Language:

english

File:

PDF, 745 KB

english, 2012

48

Genetic analysis of control of proliferation in fibroblastic cells in culture. I. Isolation and characterization of mutants temperature-sensitive for proliferation or survival of untransformed diploid rat cell line 3Y1

Kousaku Ohno, Atsuyuki Okuda, Masumi Ohtsu, Genki Kimura

Journal:

Somatic Cell and Molecular Genetics

Year:

1984

Language:

english

File:

PDF, 793 KB

english, 1984

49

Genetic analysis of control of proliferation in fibroblastic cells in culture. II. Alteration in proliferative and survival phenotypes in a set of temperature-sensitive mutants of rat 3Y1 cells after infection or transformation with simian virus 40

Kousaku Ohno, Genki Kimura

Journal:

Somatic Cell and Molecular Genetics

Year:

1984

Language:

english

File:

PDF, 502 KB

english, 1984

50

Hand-Assisted Endoscopic Esophagectomy for Esophageal Cancer

Shunichi Okushiba, Koichi Ohno, Kiyotaka Itoh, Hideki Ohkashiwa, Makoto Omi, Kousaku Satou, You Kawarada, Toshiaki Morikawa, Satoshi Kondo, Hiroyuki Katoh

Journal:

Year:

2003

Language:

english

File:

PDF, 176 KB

english, 2003

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