Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Tae Ikeda"'
Autor:
Makoto Shimada, Tae Ikeda, Ryohei Fukui, Katsuhiro Kida, Ryutaro Matsuura, Takuya Akagawa, Sachiko Goto
Publikováno v:
Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-8 (2023)
Abstract Background Arterial spin-labeling (ASL) imaging is currently the most useful method for diagnosing mitochondrial encephalomyopathy, lactic acidosis, and stroke-like attack syndrome (MELAS). However, ASL is often an optional feature of standa
Externí odkaz:
https://doaj.org/article/b34bf78fadfe4ae89515d22abc87ebc4
Publikováno v:
American Journal of Medical Genetics Part A. 191:1384-1387
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6faa396ebffc6da5f36659657c4b5f1e
https://doi.org/10.1002/ajmg.a.63135
https://doi.org/10.1002/ajmg.a.63135
Autor:
Tomokazu Kimizu, Shinobu Ida, Keisuke Oki, Morimasa Shima, Shizuka Nishimoto, Ken Nakajima, Tae Ikeda, Yukiko Mogami, Keiko Yanagihara, Keiko Matsuda, Eriko Nishi, Yuiko Hasegawa, Masatoshi Nozaki, Hiroshi Fujita, Akemi Irie, Toru Katayama, Nobuhiko Okamoto, Kohsuke Imai, Hisahide Nishio, Yasuhiro Suzuki
Publikováno v:
Brain and Development.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f08fea1a5b27e9b4dc4a1654f189bb4
https://doi.org/10.1016/j.braindev.2023.03.004
https://doi.org/10.1016/j.braindev.2023.03.004
Autor:
Tae Ikeda, Yasuhiro Suzuki, Yukiko Mogami, Ryoko Kuwayama, Keiko Yanagihara, Masanori Nishikawa, Tomokazu Kimizu, Ken Nakajima
Publikováno v:
Braindevelopment. 43(1)
Background Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cfd179ccd579296af76b9168ec9a96e
https://pubmed.ncbi.nlm.nih.gov/32723526
https://pubmed.ncbi.nlm.nih.gov/32723526
Autor:
Tae Ikeda, Taroh Kinoshita, Keiko Yanagihara, Yoshiko Murakami, Sadami Kimura, Yasuhiro Suzuki, Nobuhiko Okamoto, Yukiko Mogami
Publikováno v:
Epileptic Disorders. 20:42-50
Inherited glycosylphosphatidylinositol anchor deficiency causes a variety of clinical symptoms, including epilepsy, however, little information is available regarding seizures as a symptom. We report three siblings with inherited glycosylphosphatidyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006af3c70e2ae54361434730ff7cee02
https://doi.org/10.1684/epd.2018.0956
https://doi.org/10.1684/epd.2018.0956
Autor:
Masaaki Shiina, Muneaki Matsuo, Kazuhiro Ogata, Takashi Shibata, Naomi Tsuchida, Mitsuhiro Kato, Nina Ekhilevitch, Satomi Mitsuhashi, Satoko Miyatake, Tadashi Kaname, Yoichi Matsubara, Tae Ikeda, Hirokazu Kurahashi, Naomichi Matsumoto, Atsushi Takata, Gen Nishimura, Kenichiro Hata, Nobuhiko Okamoto, Hirotomo Saitsu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake
Publikováno v:
Human molecular genetics. 27(8)
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe687b8a3709eb52cdd829fbff9bf1c4
https://pubmed.ncbi.nlm.nih.gov/29432562
https://pubmed.ncbi.nlm.nih.gov/29432562
Autor:
Yukiko Mogami, Yasuhisa Toribe, Toshiyuki Mano, Yasuhiro Suzuki, Tae Ikeda, Keiko Yanagihara, Keitaro Yamada, Sadami Kimura, Tomokazu Kimizu
Publikováno v:
Seizure. 23:703-707
Purpose To evaluate the prognostic importance of electroencephalography (EEG) findings at cessation of epileptic spasms for seizure outcome. Methods We reviewed 71 children with West syndrome (cryptogenic 14) who had obtained control of epileptic spa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989495651334ba5f529fb38ac1ca6486
https://doi.org/10.1016/j.seizure.2014.05.010
https://doi.org/10.1016/j.seizure.2014.05.010
Autor:
Nobuhiko Okamoto, Tae Ikeda, Yuto Yamamoto, Tomohiro Komoto, Issei Imoto, Tatsuji Hasegawa, Kazumi Kawato
Publikováno v:
American Journal of Medical Genetics Part A. 164:3095-3099
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of progressive brain disorders with several distinguishable subtypes. Recently, WDR45 mutations were reported in patients with β-propell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a97d6c5eab6d2774c2c40e6e76c76da
https://doi.org/10.1002/ajmg.a.36779
https://doi.org/10.1002/ajmg.a.36779
Publikováno v:
Pediatric Neurology. 49:149-155
Background There have been very few studies concerning the Babkin reflex—opening of the mouth and flexion of the arms in response to stimulation of the palms. We attempted to clarify the clinical significance and neural mechanism of the reflex thro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033935b54030efc152a23db00556db8e
https://doi.org/10.1016/j.pediatrneurol.2013.04.005
https://doi.org/10.1016/j.pediatrneurol.2013.04.005
Autor:
Eiji Nakagawa, Ming Lee, Yoshinori Tsurusaki, Mitsuko Nakashima, Mary Claire King, Hirotomo Saitsu, Mitsuhiro Kato, Masano Amamoto, Dorit Lev, Naomichi Matsumoto, Sayaka Ohta, Kazutoshi Ueda, Yutaka Nonoda, Kiyomi Nishiyama, Tom Walsh, Tally Lerman-Sagie, Kiyoshi Hayasaka, Jun Tohyama, Bruria Ben-Zeev, Alexander Nord, Rachel Straussberg, Noriko Miyake, Gaku Yamanaka, Tae Ikeda, Kazuyuki Nakamura, Hirofumi Kodera, Saori Tanabe
Publikováno v:
Epilepsia. 54:1262-1269
Summary Purpose Early onset epileptic encephalopathies (EOEEs) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (CNVs). In this study, we performed targeted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::673e6f161941552ef3e07a485f887d0e
https://doi.org/10.1111/epi.12203
https://doi.org/10.1111/epi.12203