Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Hideaki, Mashimo"'
Autor:
Yumie Tamura, Mitsumasa Fukuda, Akihiko Ishiyama, Hiroya Nishida, Hirofumi Kashii, Hideaki Mashimo, Kenji Inoue, Hiroshi Sakuma, Satoko Kumada
Publikováno v:
Epilepsy & Behavior Reports, Vol 27, Iss , Pp 100704- (2024)
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children often requires early immunosuppressive therapy before antibody detection. While various electroencephalogram (EEG) patterns, including extreme delta brushes (EDBs), have been reporte
Externí odkaz:
https://doaj.org/article/e1c769e8e9404849885cdeaca4641b2c
Autor:
Atsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, Kenji Inoue, Hiroya Nishida, Hideaki Mashimo, Hirofumi Kashii, Mitsuhiro Kato, Koichi Maruyama, Akihisa Okumura, Hirotomo Saitsu, Naomichi Matsumoto, Mitsumasa Fukuda
Publikováno v:
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100417- (2021)
Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies. Four in
Externí odkaz:
https://doaj.org/article/5aa5f75829aa4b3ab1081303d2ac18bb
Autor:
Kenko, Azuma, Shiro, Horisawa, Hideaki, Mashimo, Mitsumasa, Fukuda, Satoko, Kumada, Takakazu, Kawamata, Takaomi, Taira, Hiroyuki, Akagawa
Publikováno v:
Clinical Genetics. 103:209-213
SGCE myoclonus-dystonia is a monogenic form of dystonia with an autosomal dominant mode of inheritance that co-occurs with a myoclonic jerk. In this study, we present 12 Japanese patients from nine families with this disease. Targeted next-generation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::485274b53876801174611be0a5e5c473
https://doi.org/10.1111/cge.14233
https://doi.org/10.1111/cge.14233
Autor:
Mitsumasa Fukuda, Maya Tojima, Kenji Inoue, Hideaki Mashimo, Hirofumi Kashii, Satoko Kumada, Kiyohide Usami, Akio Ikeda
Publikováno v:
Epileptic Disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dc3a0413f29cacb5b49e5c4117f36e0
https://doi.org/10.1002/epd2.20047
https://doi.org/10.1002/epd2.20047
Autor:
Hideaki Mashimo, Mitsuhiro Kato, Kazuki Watanabe, Hirotomo Saitsu, Keitaro Yamada, Satoko Kumada, Mitsuko Nakashima, Mikako Enokizono
Publikováno v:
Journal of Human Genetics. 66:1193-1197
Heterozygous variants in TUBB encoding one of β-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circumferential skin crease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2845a2a98dd8cddfdfdaed17dfff052
https://doi.org/10.1038/s10038-021-00956-4
https://doi.org/10.1038/s10038-021-00956-4
Autor:
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de0565eb6ff84cd751bf7022649d2bd
https://pubmed.ncbi.nlm.nih.gov/36305856
https://pubmed.ncbi.nlm.nih.gov/36305856
Autor:
Satoko Kumada, Satomi Mitsuhashi, Naomichi Matsumoto, Keiko Ishigaki, Satoko Miyatake, Hideaki Mashimo, Mahdiyeh Behnam, Futoshi Sekiguchi, Masamune Sakamoto, Nobuhiko Okamoto, Hirotomo Saitsu, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Eriko Koshimizu, Kazuhiro Iwama, Mohsen Ghadami
Publikováno v:
Journal of Human Genetics. 66:401-407
Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5990ad72b93c0ec03243ea3117f9f3f
https://doi.org/10.1038/s10038-020-00853-2
https://doi.org/10.1038/s10038-020-00853-2
Autor:
Satoko Kumada, Kenji Inoue, Takashi Komori, Hideaki Mashimo, Keisuke Takai, Harushi Mori, Mitsumasa Fukuda, Hiromi Suzuki, Hiroya Nishida, Michiharu Morino, Yasuhiro Nakata, Atsuko Arisaka
Publikováno v:
Brain and Development. 42:675-679
Aggressive immunosuppressive therapies have been proposed to treat primary angiitis of the central nervous system (PACNS). Here, we report the first successfully stabilized case of childhood, small-vessel PACNS with intravenous immunoglobulin (IVIG)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e270a5e92b85a55a3869f0d22064f56f
https://doi.org/10.1016/j.braindev.2020.06.007
https://doi.org/10.1016/j.braindev.2020.06.007
Autor:
Hiroaki Hisakawa, Rie Miyata, Kohsuke Imai, Naoyuki Tanuma, Setsuko Hasegawa, Yohane Miyata, Akio Fujine, Kenichi Kashimada, Masatoshi Takagi, Takatoshi Hosokawa, Ayako Kashimada, Atsumi Tsuji-Hosokawa, Satoko Kumada, Yuji Sugawara, Tomoko Mizuno, Mitsugu Uematsu, Kengo Moriyama, Masaharu Hayashi, Shuki Mizutani, Takeshi Hasegawa, Tomohiro Morio, Hideaki Mashimo, Hiroshi Sakuma, Ikuko Shirai, Hiroya Nishida
Publikováno v:
Pediatric Neurology. 100:60-66
Background Ataxia telangiectasia is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08dd81446173a50f11e57195da660862
https://doi.org/10.1016/j.pediatrneurol.2019.05.006
https://doi.org/10.1016/j.pediatrneurol.2019.05.006
Autor:
Mitsuaki Ishii, Toshio Kawamata, Ichiro Akiguchi, Hideo Yagi, Yuko Watanabe, Toshiyuki Watanabe, Hideaki Mashimo
Publikováno v:
Parkinson's Disease, Vol 2010 (2010)
We aimed to investigate the characteristics of Parkinsonian features assessed by the unified Parkinson's disease rating scale (UPDRS) and determine their correlations with the computed tomography (CT) findings in patients with idiopathic normal press
Externí odkaz:
https://doaj.org/article/13101d4bbd0644668a4339e875ebc648