Zobrazeno 1 - 10
of 127
pro vyhledávání: '"Ryutaro, Kira"'
Autor:
Ryoji Taira, Satoshi Akamine, Sayaka Okuzono, Fumihiko Fujii, Eriko Hatai, Kousuke Yonemoto, Ryuichi Takemoto, Hiroki Kato, Keiji Masuda, Takahiro A. Kato, Ryutaro Kira, Keita Tsujimura, Kenichiro Yamamura, Norio Ozaki, Shouichi Ohga, Yasunari Sakai
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract GNAO1 encodes G protein subunit alpha O1 (Gαo). Pathogenic variations in GNAO1 cause developmental delay, intractable seizures, and progressive involuntary movements from early infancy. Because the functional role of GNAO1 in the developing
Externí odkaz:
https://doaj.org/article/d8d36bc2a350495790ccaae44b9b9ab7
Autor:
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C
Externí odkaz:
https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3
Autor:
Naoko Yano, Pin Fee Chong, Kenji K. Kojima, Tomoichiro Miyoshi, Ahmad Luqman- Fatah, Yu Kimura, Kengo Kora, Taisei Kayaki, Kanako Maizuru, Takahiro Hayash, Atsushi Yokoyama, Masahiko Ajiro, Masatoshi Hagiwara, Teruyuki Kondo, Ryutaro Kira, Junko Takita, Takeshi Yoshida
Publikováno v:
Journal of Medical Genetics; Oct2024, Vol. 61 Issue 10, p950-958, 9p
Autor:
Nodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, Kazuyuki Nakamura, Shinjiro Akaboshi, Masataka Fukuoka, Masami Togawa, Shingo Oana, Koyo Ohno, Mariko Kasai, Chikako Ogawa, Kazuna Yamamoto, Kiyohito Okumiya, Pin Fee Chong, Ryutaro Kira, Shumpei Uchino, Tetsuhiro Fukuyama, Tomoe Shinagawa, Yohane Miyata, Yuichi Abe, Akira Hojo, Kozue Kobayashi, Yoshihiro Maegaki, Nobutsune Ishikawa, Hiroko Ikeda, Masano Amamoto, Takeshi Mizuguchi, Kazuhiro Iwama, Toshiyuki Itai, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 442-450 (2020)
Abstract Objective To elucidate the genetic background and genotype‐phenotype correlations for epilepsy with myoclonic‐atonic seizures, also known as myoclonic‐astatic epilepsy (MAE) or Doose syndrome. Methods We collected clinical information
Externí odkaz:
https://doaj.org/article/17efe75a57e94761b422dbd148928d15
Autor:
Yutaro Yada, Michiko Torio, Yuhki Koga, Fumiya Yamashita, Takuya Ichimura, Katsuhide Eguchi, Masataka Ishimura, Yuichi Mushimoto, Akio Hiwatashi, Momoko Sasazuki, Ryutaro Kira, Yasunari Sakai, Shouichi Ohga
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100778- (2021)
Background: Adrenoleukodystrophy (ALD) is an X-linked disorder characterized by rapidly progressive deterioration of neurocognitive functions and premature death. In addition to the difficulty in identifying the earliest signs of ALD, treatment-assoc
Externí odkaz:
https://doaj.org/article/a76616030bce4d86a18e0553af9e0ead
Autor:
Kenichi Maeda, Pin Fee Chong, Satoshi Akamine, Fumiya Yamashita, Yuya Morooka, Harushi Mori, Sooyoung Lee, Yumi Mizuno, Ryutaro Kira
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Kawasaki disease (KD) is an acute systemic vasculitis in children, but 0.4% of patients with KD exhibit central nervous system involvement. Acute encephalitis and encephalopathy accompanied with KD have been reported to be mostly self-l
Externí odkaz:
https://doaj.org/article/da3d91c6624840929ea7a817163f76c8
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
Autor:
Kenichi Tetsuhara, Satoshi Akamine, Yoshie Matsubara, Shunsuke Fujii, Wataru Kashimada, Kentaro Marutani, Michiko Torio, Yuya Morooka, Nozomu Hanaoka, Tsuguto Fujimoto, Haruna Nakamura-Miwa, Satoru Arai, Keiko Tanaka-Taya, Kenji Furuno, Yumi Mizuno, Ryutaro Kira
Publikováno v:
Brain and Development. 44:743-747
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::040e478fcbda34aba5486fc2c1402eea
https://doi.org/10.1016/j.braindev.2022.06.010
https://doi.org/10.1016/j.braindev.2022.06.010
Autor:
Osamu, Machida, Keiko Yamamoto, Shimojima, Takashi, Shiihara, Satoshi, Akamine, Ryutaro, Kira, Yuiko, Hasegawa, Eriko, Nishi, Nobuhiko, Okamoto, Satoru, Nagata, Toshiyuki, Yamamoto
Publikováno v:
Intractable Rare Dis Res
Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7209abbafaf1384957f8a496f5552e6
https://doi.org/10.5582/irdr.2022.01065
https://doi.org/10.5582/irdr.2022.01065
Autor:
Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira
Publikováno v:
Frontiers in Pediatrics, Vol 7 (2019)
Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age
Externí odkaz:
https://doaj.org/article/2a78dc4cbd8d41c090a26b3e272f7d73