Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Toshitaka Kawarai"'
Autor:
Koji Fujita, Tomoyasu Matsubara, Ryosuke Miyamoto, Hiroyuki Sumikura, Toshiaki Takeuchi, Keiko Maruyama Saladini, Toshitaka Kawarai, Hiroyuki Nodera, Fukashi Udaka, Kodai Kume, Hiroyuki Morino, Hideshi Kawakami, Masato Hasegawa, Ryuji Kaji, Shigeo Murayama, Yuishin Izumi
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-8 (2019)
Abstract Background The coexistence of distinct neurodegenerative diseases in single cases has recently attracted greater attention. The phenotypic co-occurrence of progressive supranuclear palsy (PSP) and amyotrophic lateral sclerosis (ALS) has been
Externí odkaz:
https://doaj.org/article/83448f5ff9594785a19a18a03fcb793b
Publikováno v:
Brain Sciences, Vol 7, Iss 7, p 72 (2017)
X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progre
Externí odkaz:
https://doaj.org/article/691454e21144499e93467276f006b4d0
Autor:
Tomoyuki Akiyama, Ryousuke Miyamoto, Harumi Yoshinaga, Katsuhiro Kobayashi, Toshitaka Kawarai, Yoshiyuki Hanaoka, Ryuji Kaji
Publikováno v:
Brain and Development. 43:783-788
Background DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. While it usually manifests as early-onset dystonia, its phenotype is extremely diverse, even within one family. Recent reports have revealed that some DYT-TOR1A cases have novel muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86b6ca0e0cd3abca42376785e6145eeb
https://doi.org/10.1016/j.braindev.2021.03.005
https://doi.org/10.1016/j.braindev.2021.03.005
Autor:
Hideo Mure, Nobuaki Yamamoto, Taku Matsuda, Toshitaka Kawarai, Yuishin Izumi, Yasushi Takagi, Rollin P Tabuena, Ryosuke Miyamoto, Ma. Daisy P. Tabuena, Kazuhisa Miyake, Ryoma Morigaki
Publikováno v:
The Journal of Medical Investigation. 68(3-4):400-403
Here we report two siblings with ataxia and peripheral neuropathy. One patient showed head tremors. Genetic analysis revealed a mutation in the hepatic α-tocopherol transfer protein (α-TTP) gene (TTPA) on chromosome 8q13. They were diagnosed with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec2c6619f0e61764646a657c12bf3db
http://repo.lib.tokushima-u.ac.jp/116574
http://repo.lib.tokushima-u.ac.jp/116574
Autor:
Aya Goji, Toshitaka Kawarai, Hiromichi Ito, Yoshihiro Toda, Kenji Mori, Naomichi Matsumoto, Atsushi Fujita, Tatsuo Mori
Publikováno v:
Epilepsy & Seizure. 13:45-50
Although epilepsy is a known complication in Coffin-Siris syndrome, its clinical symptoms and effective treatment methods have not been thoroughly investigated so far. Here, we present the case of a female with a 594-kb interstitial deletion at 6q25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::426aeb89008bacbac3b6b20c66101cfd
https://doi.org/10.3805/eands.13.45
https://doi.org/10.3805/eands.13.45
Publikováno v:
Neurology and Clinical Neuroscience. 9:137-139
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef89dee336b66a71dd9124c28941ed4d
https://doi.org/10.1111/ncn3.12472
https://doi.org/10.1111/ncn3.12472
Autor:
Masahiro Kimura, Keiko Imamura, Kayoko Tsukita, Yasuhide Kuwabara, Koh Ono, Yuya Ide, Yasuhiro Nakashima, Shigehiko Suzuki, Akitsu Hotta, Takahiro Horie, Tetsushi Nakao, Osamu Baba, Yuishin Izumi, Motoko Naitoh, Tomohiro Nishino, Haruhisa Inoue, Ryuji Kaji, Masataka Nishiga, Hitoo Nishi, Fumiko Nakazeki, Takeshi Kimura, Toshitaka Kawarai, Shuhei Tsuji, Satoshi Koyama, Itaru Tsuge
Publikováno v:
Clinical Science. 133:583-595
Recent reports, including ours, have indicated that microRNA (miR)-33 located within the intron of sterol regulatory element binding protein (SREBP) 2 controls cholesterol homeostasis and can be a potential therapeutic target for the treatment of ath
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97dea56fe230d32711ead80732c7481e
https://doi.org/10.1042/cs20180980
https://doi.org/10.1042/cs20180980
Autor:
Celeste Montecchiani, Toshitaka Kawarai, Marialuisa Miele, Roberto Rumore, F. Gaudiello, Antonio Orlacchio
Publikováno v:
Alzheimer's & Dementia. 16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c4984a51bd5e9f9fad0131583c804d9
https://doi.org/10.1002/alz.043932
https://doi.org/10.1002/alz.043932
Autor:
David Westaway, Cheryl A. D'Souza, Toshitaka Kawarai, Sabine Wislet-Gendebien, Paul D. Fraser, Peter St George-Hyslop, Anurag Tandon
Publikováno v:
The Journal of biological chemistry. 295(39)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff1784dc2da37c404664380ddaf3969
https://pubmed.ncbi.nlm.nih.gov/16926154
https://pubmed.ncbi.nlm.nih.gov/16926154
Autor:
Kyoko, Hoshino, Kathleen J, Sweadner, Toshitaka, Kawarai, Jonas Alex, Saute, Joel, Freitas, Joana, Damásio, Karina C, Donis, Kazue, Kimura, Hideki, Fukuda, Masaharu, Hayashi, Tetsuya, Higuchi, Yoshio, Ikeda, Laurie J, Ozelius, Ryuji, Kaji
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c8b1974d988fb22d2892dd0f77edc48b
https://pubmed.ncbi.nlm.nih.gov/33977143
https://pubmed.ncbi.nlm.nih.gov/33977143