Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Mitsugu, Uematsu"'
Autor:
Junko Kanno, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Dai Suzuki, Miki Kamimura, Ikuma Fujiwara, Masayuki Kamimura, Mitsugu Uematsu, Masataka Kudo, Atsuo Kikuchi
Publikováno v:
Endocrine Journal, Vol 71, Iss 7, Pp 721-727 (2024)
49,XXXYY is an extremely rare sex chromosomal aneuploidy (SCA), with only seven cases reported worldwide to date. Among these cases, only three have been documented into adulthood. Moreover, no cases of 49,XXXYY have been reported in Japan. This SCA
Externí odkaz:
https://doaj.org/article/8971f06e81a041beac4bd95f1f800ada
Autor:
Toshimitsu Suzuki, Tetsuya Tatsukawa, Genki Sudo, Caroline Delandre, Yun Jin Pai, Hiroyuki Miyamoto, Matthieu Raveau, Atsushi Shimohata, Iori Ohmori, Shin-ichiro Hamano, Kazuhiro Haginoya, Mitsugu Uematsu, Yukitoshi Takahashi, Masafumi Morimoto, Shinji Fujimoto, Hitoshi Osaka, Hirokazu Oguni, Makiko Osawa, Atsushi Ishii, Shinichi Hirose, Sunao Kaneko, Yushi Inoue, Adrian Walton Moore, Kazuhiro Yamakawa
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract CUX2 gene encodes a transcription factor that controls neuronal proliferation, dendrite branching and synapse formation, locating at the epilepsy-associated chromosomal region 12q24 that we previously identified by a genome-wide association
Externí odkaz:
https://doaj.org/article/6cb88e83038b4262b077be8001a6bc6e
Autor:
Yurika Numata-Uematsu, Mitsugu Uematsu, Toshiyuki Yamamoto, Hirotomo Saitsu, Yu Katata, Yoshitsugu Oikawa, Naoya Saijyo, Takehiko Inui, Kei Murayama, Akira Ohtake, Hitoshi Osaka, Jun-ichi Takanashi, Shigeo Kure, Ken Inoue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100800- (2021)
Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay
Externí odkaz:
https://doaj.org/article/60520ce8ac2444ce9358043c7bf7e4d5
Autor:
Yurika Numata-Uematsu, Mitsugu Uematsu, Rie Sakuraba, Masaki Iwasaki, Shinichiro Osawa, Kazutaka Jin, Nobukazu Nakasato, Shigeo Kure
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: Accurate estimation of the epileptogenic zone (EZ) is essential for favorable outcomes in epilepsy surgery. Conventional ictal electrocorticography (ECoG) onset is generally used to detect the EZ but is insufficient in achieving seizure-fr
Externí odkaz:
https://doaj.org/article/a08f7d6f0da8419d8ffbacc4883d36e1
Autor:
Yu Abe, Yu Aihara, Wakaba Endo, Hiroshi Hasegawa, Kimiyoshi Ichida, Mitsugu Uematsu, Shigeo Kure
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100716- (2021)
Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism that results from mutations in genes involved in molybdenum cofactor (Moco) biosynthesis. MoCD is characterized clinically by intractable seizures and severe,
Externí odkaz:
https://doaj.org/article/60548ca8070b433194fe13225fcad0ce
Autor:
Kazuhiro Haginoya, Futoshi Sekiguchi, Mitsutoshi Munakata, Hiroyuki Yokoyama, Naomi Hino-Fukuyo, Mitsugu Uematsu, Kazutaka Jin, Kenichi Nagamatsu, Tadashi Ando, Noriko Miyake, Naomichi Matsumoto, Shigeo Kure
Publikováno v:
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100405- (2021)
We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years. Our report presents the g
Externí odkaz:
https://doaj.org/article/335f8918569a4a68a1b7f98284cd26eb
Autor:
Tetsuro Matsuhashi, Takeya Sato, Shin-ichiro Kanno, Takehiro Suzuki, Akihiro Matsuo, Yuki Oba, Motoi Kikusato, Emi Ogasawara, Tai Kudo, Kosuke Suzuki, Osamu Ohara, Hiroko Shimbo, Fumika Nanto, Hiroaki Yamaguchi, Daisuke Saigusa, Yasuno Mukaiyama, Akiko Watabe, Koichi Kikuchi, Hisato Shima, Eikan Mishima, Yasutoshi Akiyama, Yoshitsugu Oikawa, HO Hsin-Jung, Yukako Akiyama, Chitose Suzuki, Mitsugu Uematsu, Masaki Ogata, Naonori Kumagai, Masaaki Toyomizu, Atsushi Hozawa, Nariyasu Mano, Yuji Owada, Setsuya Aiba, Teruyuki Yanagisawa, Yoshihisa Tomioka, Shigeo Kure, Sadayoshi Ito, Kazuto Nakada, Ken-ichiro Hayashi, Hitoshi Osaka, Takaaki Abe
Publikováno v:
EBioMedicine, Vol 20, Iss C, Pp 27-38 (2017)
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies and drugs affecting mitochondrial biogenesis are undergoing investigation, although not all of them have demonstrated favor
Externí odkaz:
https://doaj.org/article/a69fd02b6914423ab9feee99f60fd27a
Autor:
Naoya Saijo, Yu Abe, Yoshitsugu Oikawa, Yukimune Okubo, Wakaba Endo, Yurika Numata-Uematsu, Toshiyuki Takahashi, Mitsugu Uematsu
Publikováno v:
Brain and Development. 44:353-356
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0c7641e7ac871944df85bd383c3a54f
https://doi.org/10.1016/j.braindev.2021.12.010
https://doi.org/10.1016/j.braindev.2021.12.010
Autor:
Kazushi, Ukishiro, Shin-Ichiro, Osawa, Masaki, Iwasaki, Yosuke, Kakisaka, Kazutaka, Jin, Mitsugu, Uematsu, Tetsuya, Yamamoto, Teiji, Tominaga, Nobukazu, Nakasato
Publikováno v:
Neurosurgery. 90:547-551
Recovery time after corpus callosotomy (CC) is known to be longer in elderly than in younger patients.To evaluate the relationship between patient age and recovery time of activities of daily living (ADL) after 1-stage complete CC.This study included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d003b78ffa93193a2f5dd1ae724324
https://doi.org/10.1227/neu.0000000000001871
https://doi.org/10.1227/neu.0000000000001871
Autor:
Shigeo Kure, Kumiko Yanagi, Yu Katata, Atsuo Kikuchi, Tadashi Kaname, Naoya Saijo, Hinako Kirikae, Yurika Numata-Uematsu, Mitsugu Uematsu, Kazuhiro Haginoya, Yoshitsugu Oikawa
Publikováno v:
Brain and Development. 44:148-152
Introduction Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by mutations in TCF4. Seizures have been found to vary among patients with PTHS. We report the case of a PTHS patient with a novel missense mutation in the gene TCF4, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bd9fb8250d4a5ffa8a9ee7c59da9b23
https://doi.org/10.1016/j.braindev.2021.09.003
https://doi.org/10.1016/j.braindev.2021.09.003