Miyatake, Hirotomo: search on Z-Library

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1

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

Minase, Gaku, Miyatake, Satoko, Nabatame, Shin, Arai, Hiroshi, Koshimizu, Eriko, Mizuguchi, Takeshi, Nakashima, Mitsuko, Miyake, Noriko, Saitsu, Hirotomo, Miyamoto, Toshinobu, Sengoku, Kazuo, Matsumot

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 400 KB

english, 2017

2

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report

Abe, Yoshiichi, Matsuduka, Atsuko, Okanari, Kazuo, Miyahara, Hiroaki, Kato, Mitsuhiro, Miyatake, Satoko, Saitsu, Hirotomo, Matsumoto, Naomichi, Tomoki, Maeda, Ihara, Kenji

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 566 KB

english, 2017

3

Effect of thiamin deficiency on wax ester fermentation in Euglena gracilis.

INUI, Hiroshi, OCHI, Hirotomo, NOGAMI, Katsuji, MIYATAKE, Kazutaka, NAKANO, Yoshihisa, KITAOKA, Shozaburo

Journal:

Agricultural and Biological Chemistry

Year:

1988

Language:

english

File:

PDF, 365 KB

english, 1988

4

Emergency transfers of home care patients in Fukui Prefecture, Japan

Kosaka, Makoto, Miyatake, Hirotomo, Arita, Satoshi, Masunaga, Hidehisa, Ozaki, Akihiko, Nishikawa, Yoshitaka, Beniya, Hiroyuki

Journal:

Medicine (Williams & Wilkins)

Year:

2020

File:

PDF, 199 KB

2020

5

Photochemical reaction of dimethylarsinous iodide in aerated methanol: A contribution to arsenic radical chemistry

Kenzo Yamanaka, Hiroshi Okimi, Hiroyuki Suzuki, Yusuke Tajima, Hirotaka Sonoki, Masahisa Osawa, Takashi Saito, Hirotomo Hase, Yoko Miyatake, Shoji Okada, Yoshio Miyazaki, Mikio Hoshino

Journal:

Journal of Photochemistry and Photobiology A: Chemistry

Year:

2008

Language:

english

File:

PDF, 648 KB

english, 2008

6

Conversion of Ag 0 into Ag 2+ in γ -Irradiated Organic Solid Solutions at 77 K as Studied by ESR

Matsuura, Kaoru, Hase, Hirotomo, Arai, Shigeyoshi, Miyatake, Yoko, Hoshino, Mikio

Journal:

Bulletin of the Chemical Society of Japan

Year:

1999

File:

PDF, 689 KB

1999

7

Optical Absorption Properties of Silver Atoms in γ-Irradiated Aqueous, 2-Methyltetrahydrofuran, and Ethanol Solutions at Low Temperatures

Hase, Hirotomo, Arai, Shigeyoshi, Isomura, Akihiro, Terazawa, Norihisa, Miyatake, Yoko, Hoshino, Mikio

Journal:

Journal of Physical Chemistry

Year:

1996

Language:

english

File:

PDF, 339 KB

english, 1996

8

Emission Characteristics of Silver Atoms in γ−Irradiated Organic Solid Solutions at 77 K

Miyatake, Yoko, Hase, Hirotomo, Matsuura, Kaoru, Taguchi, Mitsumasa, Hoshino, Mikio, Arai, Shigeyoshi

Journal:

Journal of Physical Chemistry B

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

9

Comparative ESR study of C60 and C70 radical anions produced in γ-irradiated organic solid solutions at 77 K

Hirotomo Hase, Yoko Miyatake

Journal:

Chemical Physics Letters

Year:

1995

Language:

english

File:

PDF, 480 KB

english, 1995

10

Effect of Thiamin Deficiency on Wax Ester Fermentation in Euglena gracilis

Inui, Hiroshi, Ochi, Hirotomo, Nogami, Katsuji, Miyatake, Kazutaka, Nakano, Yoshihisa, Kitaoka, Shozaburo

Journal:

Agricultural and Biological Chemistry

Year:

1988

Language:

english

File:

PDF, 858 KB

english, 1988

11

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Saitsu, Hirotomo, Watanabe, Miho, Akita, Tenpei, Ohba, Chihiro, Sugai, Kenji, Ong, Winnie Peitee, Shiraishi, Hideaki, Yuasa, Shota, Matsumoto, Hiroshi, Beng, Khoo Teik, Saitoh, Shinji, Miyatake, Satok

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.94 MB

english, 2016

12

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

Iwama, Kazuhiro, Takaori, Toru, Fukushima, Ai, Tohyama, Jun, Ishiyama, Akihiko, Ohba, Chihiro, Mitsuhashi, Satomi, Miyatake, Satoko, Takata, Atsushi, Miyake, Noriko, Ito, Shuichi, Saitsu, Hirotomo, Mi

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.85 MB

english, 2018

13

‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing

Yoshida, Kunihiro, Miyatake, Satoko, Kinoshita, Tomomi, Doi, Hiroshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 376 KB

english, 2014

14

Raman study of ethanol and ethanolic solutions of lithium chloride at low temperatures

Hase, Hirotomo, Ishioka, Kunie, Miyatake, Yoko, Kobayashi, Mitsue, Kobayashi, Masamichi

Journal:

Journal of Physical Chemistry

Year:

1991

Language:

english

File:

PDF, 753 KB

english, 1991

15

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

Iwama, Kazuhiro, Sasaki, Masayuki, Hirabayashi, Shinichi, Ohba, Chihiro, Iwabuchi, Emi, Miyatake, Satoko, Nakashima, Mitsuko, Miyake, Noriko, Ito, Shuichi, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 760 KB

english, 2016

16

Electronic spectra of anion radicals of C60 and its derivative in γ-irradiated MTHF solid solutions

Hirotomo Hase, Yuichiro Kitajima, Yosiki Miyamoto, Yoko Miyatake, Yusuke Tajima, Mikio Hoshino

Journal:

Chemical Physics Letters

Year:

2000

Language:

english

File:

PDF, 172 KB

english, 2000

17

Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yosh

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 669 KB

english, 2016

18

A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy

Higashiyama, Yuichi, Doi, Hiroshi, Wakabayashi, Masatoshi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Ohba, Chihiro, Fukai, Ryoko, Miyatake, Satoko, Joki, Hideto, Koyano, Shigeru, Suzuki,

Journal:

Movement Disorders

Year:

2013

Language:

english

File:

PDF, 2.10 MB

english, 2013

19

Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome

Uchiyama, Yuri, Nakashima, Mitsuko, Watanabe, Satoshi, Miyajima, Masakazu, Taguri, Masataka, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Mishima, Hiroyuki, Kinoshita, Akira, Arai, Hajime, Yosh

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 116 KB

english, 2017

20

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

Miyatake, Satoko, Koshimizu, Eriko, Hayashi, Yukiko K., Miya, Kazushi, Shiina, Masaaki, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Ogata, Kazuhiro, Nishino, Ichizo, Ma

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

21

ESR and Optical Properties of Copper Atoms in γ-Irradiated Organic Solutions at 77 K

Miyatake, Yoko, Hase, Hirotomo, Saito, Takeshi, Onishi, Masayoshi, Tajima, Yusuke, Hoshino, Mikio

Journal:

Journal of Physical Chemistry A

Year:

2001

Language:

english

File:

PDF, 73 KB

english, 2001

22

A Novel SACS Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Miyatake, Satoko, Miyake, Noriko, Doi, Hiroshi, Saitsu, Hirotomo, Ogata, Katsuhisa, Kawai, Mitsuru, Matsumoto, Naomichi

Journal:

Internal Medicine

Year:

2012

Language:

english

File:

PDF, 279 KB

english, 2012

23

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

Miyatake, Satoko, Kato, Mitsuhiro, Sawaishi, Yukio, Saito, Takashi, Nakashima, Mitsuko, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 717 KB

english, 2018

24

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing

Hirasawa-Inoue, Ayaka, Ishiyama, Akihiko, Takeshita, Eri, Shimizu-Motohashi, Yuko, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Yuasa, Shota, Saitsu, Hirotomo, Hamanaka, Kohei, Miyatake, Satoko,

Journal:

Brain and Development

Year:

2019

Language:

english

File:

PDF, 739 KB

english, 2019

25

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letournea

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

26

De novo DNM1 mutations in two cases of epileptic encephalopathy

Nakashima, Mitsuko, Kouga, Takeshi, Lourenço, Charles Marques, Shiina, Masaaki, Goto, Tomohide, Tsurusaki, Yoshinori, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Ogata, Kazuhiro, Osaka, Hitosh

Journal:

Year:

2016

Language:

english

File:

PDF, 340 KB

english, 2016

27

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satok

Journal:

Annals of Clinical and Translational Neurology

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

28

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Doi, Hiroshi, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyatake, Satoko, Miyake, Noriko, Saitsu, Hirotomo, Kawamoto, Yuko, Yoshida, Tamaki, Koyano, Shigeru, Suzuki, Yume, Kuroiwa, Yoshiyuki, Tanaka, Fumia

Journal:

Internal Medicine

Year:

2013

Language:

english

File:

PDF, 423 KB

english, 2013

29

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

Koshimizu, Eriko, Miyatake, Satoko, Okamoto, Nobuhiko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi, Yoshikawa, Takeo

Journal:

Year:

2013

Language:

english

File:

PDF, 173 KB

english, 2013

30

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

Miyatake, Satoko, Touho, Hajime, Miyake, Noriko, Ohba, Chihiro, Doi, Hiroshi, Saitsu, Hirotomo, Taguri, Masataka, Morita, Satoshi, Matsumoto, Naomichi

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 537 KB

english, 2012

31

Detection of low-prevalence somaticTSC2mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing

Fujita, Atsushi, Ando, Katsutoshi, Kobayashi, Etsuko, Mitani, Keiko, Okudera, Koji, Nakashima, Mitsuko, Miyatake, Satoko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Seyama, Kuniaki, Miyake, Noriko, Matsu

Journal:

Year:

2016

Language:

english

File:

PDF, 460 KB

english, 2016

32

Extreme snowfall and residential care: A case report of a 2âyearâold girl with heart failure

Miyatake, Hirotomo, Yamamoto, Kana, Ozaki, Akihiko, Kawada, Shogo, Nishikawa, Yoshitaka, Beniya, Hiroyuki

Journal:

Clinical Case Reports

Year:

2020

File:

PDF, 311 KB

2020

33

Electronic spectra of C70 anions produced in γ-irradiated organic glasses at 77 K

Hirotomo Hase, Yoko Miyatake

Journal:

Chemical Physics Letters

Year:

1993

Language:

english

File:

PDF, 259 KB

english, 1993

34

ESR spectra of C60 radical anions produced in γ-irradiated organic solid solutions at 77 K

Hirotomo Hase, Yoko Miyatake

Journal:

Chemical Physics Letters

Year:

1994

Language:

english

File:

PDF, 380 KB

english, 1994

35

A De Novo Deletion at 16q24.3 Involving ANKRD 11 in a Japanese Patient With KBG Syndrome

Miyatake, Satoko, Murakami, Akira, Okamoto, Nobuhiko, Sakamoto, Michiko, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 916 KB

english, 2013

36

Vibrational and Rotational Raman Spectra of Trapped Hydrogen in Irradiated Ethanol Crystal at 77 K

Hase, Hirotomo, Ishioka, Kunie, Miyatake, Yoko

Journal:

Bulletin of the Chemical Society of Japan

Year:

1992

File:

PDF, 216 KB

1992

37

Fluorescence Emission and Cycloaddition Reaction Induced by Ionizing Radiation in 2,5-Distyrylpyrazine Molecular Crystal : A Comparison to the Photo-Illuminated Systems

Ishida, Wataru, Takenaka, Yasuyuki, Miyatake, Yoko, Hase, Hirotomo, Ogasawara, Masaaki

Journal:

Bulletin of the Chemical Society of Japan

Year:

1997

File:

PDF, 805 KB

1997

38

Optical and ESR studies of radiolytically reduced species of Ag(I) complexes in organic solid solutions at 77 K

Kaoru Matsuura, Minghua Liu, Mikio Hoshino, Hirotomo Hase, Shigeyoshi Arai, Yoko Miyatake

Journal:

Chemical Physics Letters

Year:

1999

Language:

english

File:

PDF, 137 KB

english, 1999

39

ESR study on gold atoms produced in γ-irradiated MTHF and 10 M NaOH aqueous solutions containing Au+ ions at 77 K

Hirotomo Hase, Yoko Miyatake, Yoshiki Miyamoto

Journal:

Chemical Physics Letters

Year:

2000

Language:

english

File:

PDF, 78 KB

english, 2000

40

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

Yoshitomi, Shinsaku, Takahashi, Yukitoshi, Imai, Katsumi, Koshimizu, Eriko, Miyatake, Satoko, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro, Fujita, Takako, Ishii, Atsushi

Journal:

Year:

2019

File:

PDF, 9.76 MB

2019

41

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake,

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 2.60 MB

english, 2015

42

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Miyatake, Satoko, Okamoto, Nobuhiko, Stark, Zornitza, Nabetani, Makoto, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Mizuguchi, Takeshi, Ohtake, Akira, Saitsu, Hirotomo, Matsumoto, Naomic

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 565 KB

english, 2017

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