AKABOSHI, Shinjiro: search on Z-Library

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1

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

2

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

Mitsuhiro Kato, Eiji Nanba, Shinjiro Akaboshi, Takashi Shiihara, Aiko Ito, Tomomi Honma, Kenji Tsuburaya, Kiyoshi Hayasaka

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 7.47 MB

english, 2000

3

Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)

Hiroyuki Torisu, Toshiyuki Yamamoto, Takehisa Fujiwaki, Mitsutaka Kadota, Mitsuo Oshimura, Kenji Kurosawa, Shinjiro Akaboshi, Akira Oka

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 151 KB

english, 2004

4

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Shinjiro Akaboshi, Boris M. Hogema, Andrea Novelletto, Patrizia Malaspina, Gajja S. Salomons, George D. Maropoulos, Cornelis Jakobs, Markus Grompe, K. Michael Gibson

Journal:

Year:

2003

Language:

english

File:

PDF, 218 KB

english, 2003

5

Case of a mentally retarded child with non-24 hour sleep–wake syndrome caused by deficiency of melatonin secretion

Shinjiro Akaboshi, Yu-Ichi Inoue, Norika Kubota, Kenzo Takeshita

Journal:

Psychiatry and Clinical Neurosciences

Year:

2000

Language:

english

File:

PDF, 90 KB

english, 2000

6

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type

Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya, Katsumi Higaki, Miyako Taniguchi, Haidi Zhang, Shinjiro Akaboshi, Yasuhiro Watanabe, Takao Takeshima, Koji Inui, Shintaro Okada, Akemi Tanaka, Norio S

Journal:

Year:

1999

Language:

english

File:

PDF, 171 KB

english, 1999

7

Transient extreme spindles in a case of subacute Mycoplasma pneumoniae encephalitis

Shinjiro Akaboshi, Tatsuya Koeda, Sadataka Houdou

Journal:

Pediatrics International

Year:

1998

Language:

english

File:

PDF, 390 KB

english, 1998

8

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

9

Developmental and pathological expression of peroxisomal enzymes: their relationship of d-bifunctional protein deficiency and Zellweger syndrome

Masayuki Itoh, Yasuyuki Suzuki, Shinjiro Akaboshi, Zhongyi Zhang, Shinichi Miyabara, Sachio Takashima

Journal:

Year:

2000

Language:

english

File:

PDF, 1.06 MB

english, 2000

10

Forced normalization induced by ethosuximide therapy in a patient with intractable myoclonic epilepsy

Toshiyuki Yamamoto, Judy R. Pipo, Shinjiro Akaboshi, Sakae Narai

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 163 KB

english, 2001

11

Accumulation of cholesterol and GM2 ganglioside in cells cultured in the presence of progesterone: an implication for the basic defect in Niemann-Pick disease type C

Masahiro Sato, Shinjiro Akaboshi, Tetsuo Katsumoto, Miyako Taniguchi, Katsumi Higaki, Tadashi Tai, Hitoshi Sakuraba, Kousaku Ohno

Journal:

Brain and Development

Year:

1998

Language:

english

File:

PDF, 761 KB

english, 1998

12

Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case

Shinjiro Akaboshi, Yutaka Tomita, Yasuyuki Suzuki, Mizuho Une, Osamu Sohmae, Sachio Takashima, Kenzo Takeshita

Journal:

Brain and Development

Year:

1997

Language:

english

File:

PDF, 708 KB

english, 1997

13

Increased levels of GM2 ganglioside in fibroblasts from a patient with juvenile Niemann–Pick disease type C

Yasuhiro Watanabe, Shinjiro Akaboshi, Gen Ishida, Takao Takeshima, Tamami Yano, Miyako Taniguchi, Kousaku Ohno, Kenji Nakashima

Journal:

Brain and Development

Year:

1998

Language:

english

File:

PDF, 955 KB

english, 1998

14

A case of atypical absence seizures induced by leuprolide acetate

Shinjiro Akaboshi, Kenzo Takeshita

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 166 KB

english, 2000

15

Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

Paola Blasi, Pietro Pilo Boyl, Mario Ledda, Andrea Novelletto, K.Michael Gibson, Cornelis Jakobs, Boris Hogema, Shinjiro Akaboshi, Fabrizio Loreni, Patrizia Malaspina

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 400 KB

english, 2002

16

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Shimojima, Keiko, Shimada, Shino, Tamasaki, Akiko, Akaboshi, Shinjiro, Komoike, Yuta, Saito, Akira, Furukawa, Toru, Yamamoto, Toshiyuki

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 681 KB

english, 2014

17

The carbohydrate deficient glycoprotein syndrome in three Japanese children

Ohno, Kousaku, Yuasa, Isao, Akaboshi, Shinjiro, Itoh, Masayuki, Yoshida, Kazunari, Ehara, Hiroaki, Ochiai, Yasuo, Takeshita, Kenzo

Journal:

Brain and Development

Year:

1992

Language:

english

File:

PDF, 1019 KB

english, 1992

18

A Case of Høyeraal-Hreidarsson Syndrome: Delayed Myelination and Hypoplasia of Corpus Callosum are Other Important Signs

Akaboshi, Shinjiro, Yoshimura, Masaki, Hara, Toshiro, Kageyama, Hiroko, Nishikwa, Ken-ichi, Kawakami, Tetsuo, Ieshima, Atsushi, Takeshita, Kenzo

Journal:

Neuropediatrics

Year:

2000

Language:

english

File:

PDF, 1.48 MB

english, 2000

19

Manifestations and characteristics of congenital adrenal hyperplasia-associated encephalopathy

Abe, Yuichi, Sakai, Tetsuro, Okumura, Akihisa, Akaboshi, Shinjiro, Fukuda, Mitsumasa, Haginoya, Kazuhiro, Hamano, Shin-ichiro, Hirano, Kouichi, Kikuchi, Kenjiro, Kubota, Masaya, Lee, Sooyoung, Maegaki

Journal:

Brain and Development

Year:

2016

Language:

english

File:

PDF, 741 KB

english, 2016

20

Increased cerebral choline-compounds in Duchenne muscular dystrophy

Kato, Toshinori, Nishina, Masami, Matsushita, Kazuhiro, Hori, Eitaro, Akaboshi, Shinjiro, Takashima, Sachio

Journal:

Year:

1997

Language:

english

File:

PDF, 154 KB

english, 1997

21

Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts.

YANO, Tamami, TANIGUCHI, Miyako, AKABOSHI, Shinjiro, VANIER, Marie-Thèrése, TAI, Tadashi, SAKURABA, Hitoshi, OHNO, Kousaku

Journal:

Proceedings of the Japan Academy Series B Physical and Biological Sciences

Year:

1996

Language:

english

File:

PDF, 2.98 MB

english, 1996

22

Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study

Yamada, Hiroyuki, Ohno, Koyo, Shiota, Madoka, Togawa, Masami, Utsunomiya, Yasushi, Akaboshi, Shinjiro, Tsuchie, Hirokazu, Okada, Takayoshi, Oguri, Masayosi, Higami, Shigeru, Noma, Hisashi, Maegaki, Yo

Journal:

Brain and Development

Year:

2020

File:

PDF, 503 KB

2020

23

Clinical and genetic characteristics of patients with Doose syndrome

Hinokuma, Nodoka, Nakashima, Mitsuko, Asai, Hideyuki, Nakamura, Kazuyuki, Akaboshi, Shinjiro, Fukuoka, Masataka, Togawa, Masami, Oana, Shingo, Ohno, Koyo, Kasai, Mariko, Ogawa, Chikako, Yamamoto, Kazu

Journal:

Year:

2020

File:

PDF, 1.40 MB

2020

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