An integrated genetic analysis of epileptogenic brain malformed lesions

Autor: Atsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, Yasushi Iimura, Hiroharu Suzuki, Jun Tohyama, Masafumi Fukuda, Yosuke Ito, Shimpei Baba, Tohru Okanishi, Hideo Enoki, Ayataka Fujimoto, Akiyo Yamamoto, Kentaro Kawamura, Shinsuke Kato, Ryoko Honda, Tomonori Ono, Hideaki Shiraishi, Kiyoshi Egawa, Kentaro Shirai, Shinji Yamamoto, Itaru Hayakawa, Hisashi Kawawaki, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, Satoko Miyatake, Takeshi Mizuguchi, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Akiyoshi Kakita, Naomichi Matsumoto

Publikováno v: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)

Abstract Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of epi

Externí odkaz: https://doaj.org/article/6d39077dbc52426b8b9d6e2a39958a82

Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

Autor: Kentaro Kawamura, Shinobu Fukumura, Koki Nikaido, Nobutada Tachi, Naoki Kozuka, Tsugumi Seino, Kingya Hatakeyama, Mitsuru Mori, Yoichi M. Ito, Akiyoshi Takami, Shiro Hinotsu, Atsushi Kuno, Yukihiko Kawasaki, Yoshiyuki Horio, Hiroyuki Tsutsumi

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

Abstract Muscular dystrophies (MDs) are inherited disorders characterized by progressive muscle weakness. Previously, we have shown that resveratrol (3,5,4′-trihydroxy-trans-stilbene), an antioxidant and an activator of the protein deacetylase SIRT

Externí odkaz: https://doaj.org/article/bf548d12dece47e28717140c32a296ef

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020

Autor: Kentaro Okamoto, Hisahide Nishio, Takahiro Motoki, Toshihiro Jogamoto, Kaori Aibara, Yoichi Kondo, Kentaro Kawamura, Yukihiko Konishi, Chiho Tokorodani, Ritsuo Nishiuchi, Mariko Eguchi

Publikováno v: International Journal of Neonatal Screening, Vol 8, Iss 4, p 52 (2022)

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Al-though there was no cure for SMA, newly developed therapeutic drugs (nusinersen, onasemnogene abeparvovec, and risdiplam) have been proven effective for the improvemen

Externí odkaz: https://doaj.org/article/660b54dc49654ac3b9fff362503a70a4

Reliability of the portable gait rhythmogram in post-stroke patients

Autor: Tadashi Ogura, Ayana Niibo, Takashi Hoei, Ryuji Miyata, Seiji Miura, Kentaro Kawamura, Megumi Shimodozono, Tomohiro Uema, Kodai Miyara, Shuji Matsumoto

Publikováno v: Bio-Medical Materials and Engineering. 31:329-338

BACKGROUND: Gait analysis, such as portable gait rhythmogram (PGR), provides objective information that helps in the quantitative evaluation of human locomotion. OBJECTIVE: The purpose of this study was to assess the reliability of PGR in post-stroke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165edb44f7dc9152c22f06b2949991b7
https://doi.org/10.3233/bme-206007

Factors Influencing the Improvement of Activities of Daily Living during Inpatient Rehabilitation in Newly Diagnosed Patients with Glioblastoma Multiforme

Autor: Keisuke Natsume, Harutoshi Sakakima, Kentaro Kawamura, Akira Yoshida, Shintaro Akihiro, Hajime Yonezawa, Koji Yoshimoto, Megumi Shimodozono

Publikováno v: Journal of Clinical Medicine, Vol 11, Iss 417, p 417 (2022)
Journal of Clinical Medicine; Volume 11; Issue 2; Pages: 417
Journal of Clinical Medicine

Glioblastoma multiforme (GBM) is the most common and aggressive brain tumor. To identify the factors influencing the improvement of the activities of daily living (ADL) in newly diagnosed patients with GBM, we investigated the characteristics and var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19d7a3a14a3c1cad816f8343cd032bf7
https://www.mdpi.com/2077-0383/11/2/417