Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Takashi Kurashige"'
Autor:
Takashi Kurashige, Rie Nakamura, Tomomi Murao, Naoko Mine, Mayu Sato, Riho Katsumata, Yuhei Kanaya, Yoriko Dodo, Tomohito Sugiura, Tomohiko Ohshita
Publikováno v:
BMC Immunology, Vol 25, Iss 1, Pp 1-10 (2024)
Abstract Background Immune-mediated necrotizing myopathy (IMNM) is an idiopathic inflammatory myopathy (IIM). Though patients with IMNM were not considered to show skin rash, several reports have showed atypical skin conditions in patients with anti-
Externí odkaz:
https://doaj.org/article/bd8d7e0e042e4dfb9b8d33be6127bce3
Autor:
Wakako Yoshioka, Aritoshi Iida, Kyuto Sonehara, Kazuki Yamamoto, Yasushi Oya, Madoka Mori-Yoshimura, Takashi Kurashige, Mariko Okubo, Megumu Ogawa, Fumihiko Matsuda, Koichiro Higasa, Shinichiro Hayashi, Harumasa Nakamura, Masakazu Sekijima, Yukinori Okada, Satoru Noguchi, Ichizo Nishino
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE myopathy patients, GNE c.620A
Externí odkaz:
https://doaj.org/article/4f9dabf851b449cc98ef9808181bb5ac
Autor:
Megumi Toko, Tomohiko Ohshita, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Hiroshi Yamashita, Gen Sobue, Yasushi Iwasaki, Jun Sone, Hideshi Kawakami, Hirofumi Maruyama
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the simil
Externí odkaz:
https://doaj.org/article/db744121c4ef4805b98016e84b9a1311
Autor:
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)
Abstract Background The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while
Externí odkaz:
https://doaj.org/article/22f05a9c7cd84ecea5a2659576d84a38
Autor:
Tomoyasu Matsubara, Yuko Saito, Takashi Kurashige, Mana Higashihara, Fumio Hasegawa, Masashi Ogasawara, Aritoshi Iida, Ichizo Nishino, Tadashi Adachi, Akatsuki Kubota, Shigeo Murayama
Publikováno v:
eNeurologicalSci, Vol 24, Iss , Pp 100348- (2021)
Externí odkaz:
https://doaj.org/article/7136e209f9274ceb8b3005a392815c4f
Autor:
Takashi Kurashige, Masahito Kuramochi, Ryosuke Ohsawa, Yui Yamashita, Go Shioi, Hiroyuki Morino, Masaki Kamada, Takashi Ayaki, Hidefumi Ito, Yusuke Sotomaru, Hirofumi Maruyama, Hideshi Kawakami
Publikováno v:
Neurobiology of Disease, Vol 148, Iss , Pp 105215- (2021)
We previously showed that optineurin (OPTN) mutations lead to the development of amyotrophic lateral sclerosis. The association between OPTN mutations and the pathogenesis of amyotrophic lateral sclerosis remains unclear. To investigate the mechanism
Externí odkaz:
https://doaj.org/article/190dffdfc2224b6d86b31a6626a887da
Autor:
Megumi Toko, Tomohiko Ohshita, Takashi Kurashige, Hiroyuki Morino, Kodai Kume, Hiroshi Yamashita, Gen Sobue, Yasushi Iwasaki, Jun Sone, Hideshi Kawakami, Hirofumi Maruyama
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/1e9ce9348a6345619dd4d897da42f8d7
Autor:
Masahiro Nakamori, Tetsuya Takahashi, Tomokazu Nishikawa, Yu Yamazaki, Takashi Kurashige, Hirofumi Maruyama, Koji Arihiro, Masayasu Matsumoto
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e80995 (2013)
BackgroundRimmed vacuoles (RVs) are round-oval cytoplasmic inclusions, detected in muscle cells of patients with myopathies, such as inclusion body myositis (IBM) and distal myopathy with RVs (DMRV). Granulovacuolar degeneration (GVD) bodies are sphe
Externí odkaz:
https://doaj.org/article/1d5e5a42088b4949af81446e4b3dda7a
Autor:
Yuu Yamazaki, Tomoyasu Matsubara, Tetsuya Takahashi, Takashi Kurashige, Eisuke Dohi, Masanori Hiji, Yoshito Nagano, Takemori Yamawaki, Masayasu Matsumoto
Publikováno v:
PLoS ONE, Vol 6, Iss 11, p e26996 (2011)
BackgroundGranulovacuolar degeneration (GVD) is one of the pathological hallmarks of Alzheimer's disease (AD), and it is defined as electron-dense granules within double membrane-bound cytoplasmic vacuoles. Several lines of evidence have suggested th
Externí odkaz:
https://doaj.org/article/54b5abe66de74acf900bfdee2d778b37
Autor:
Takashi Kurashige, Hiroyuki Morino, Hiroki Ueno, Tomomi Murao, Tomoaki Watanabe, Takao Hinoi, Ichizo Nishino, Tsuyoshi Torii, Hirofumi Maruyama
Publikováno v:
Journal of Human Genetics. 68(2):91-95
Facioscapulohumeral dystrophy type1 (FSHD1) patients with a shortened D4Z4 repeat containing the DUX4 gene have a broad spectrum of clinical manifestations. In addition, high expression of DUX4 protein with an aberrant C terminus is frequently identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd283637c2d633072a8677bfa36fa4a0
http://repo.lib.tokushima-u.ac.jp/118058
http://repo.lib.tokushima-u.ac.jp/118058