Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Kiyohiro Kim"'
Autor:
Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)
Abstract Objective The use of folic acid (FA) has been discouraged in cerebral folate deficiency (CFD) because, theoretically, it could inhibit the transport of 5‐methyltetrahydrofolic acid (5MTHF) across the blood–cerebrospinal fluid (CSF) barri
Externí odkaz:
https://doaj.org/article/5777a91eae754e17a852a102daa09081
Autor:
Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021)
Abstract Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases,
Externí odkaz:
https://doaj.org/article/55de45bc9bae4c5ba8850676f47c84e2
Autor:
Yamamoto, Naohiro, Kuki, Ichiro, Yamada, Naoki, Nagase-Oikawa, Shizuka, Fukuoka, Masataka, Kiyohiro, Kim, Inoue, Takeshi, Nukui, Megumi, Ishikawa, Junichi, Amo, Kiyoko, Togawa, Masao, Otsuka, Yasunori, Okazaki, Shin
Publikováno v:
In Epilepsy Research January 2025 209
Autor:
Hisashi Kawawaki, Ichiro Kuki, Mitsuko Nakashima, Takeshi Inoue, Naomichi Matsumoto, Megumi Nukui, Kiyohiro Kim, Shin Okazaki, Masataka Fukuoka
Publikováno v:
Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021)
Epilepsia Open
Epilepsia Open
Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44aa96fcbbb863df0161cf3d8444593e
https://doaj.org/article/55de45bc9bae4c5ba8850676f47c84e2
https://doaj.org/article/55de45bc9bae4c5ba8850676f47c84e2
Autor:
Hisashi Kawawaki, Ichiro Kuki, Megumi Nukui, Shinji Saitoh, Takeshi Inoue, Masataka Fukuoka, Yuji Nakamura, Kiyohiro Kim, Aya Hashimoto, Shin Okazaki
Publikováno v:
Brain and Development. 41:625-629
Background Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf5ec4029f880c5fa63a7e7c800ce8c5
https://doi.org/10.1016/j.braindev.2019.03.003
https://doi.org/10.1016/j.braindev.2019.03.003
Autor:
Masao Togawa, Chiharu Yamairi, Ichiro Kuki, Kiyohiro Kim, Kiyoko Amo, Kenji Iwai, Masataka Fukuoka
Publikováno v:
Brain and Development. 41:217-220
Sjogren syndrome (SS) is a systemic inflammatory and autoimmune disease characterized by systemic disorders of the exocrine glands, predominantly the salivary and lacrimal glands. Here, we report a 4-year-old boy who presented with the repetition of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::214b073a87c0db486e08c51ffef2e3ae
https://doi.org/10.1016/j.braindev.2018.08.004
https://doi.org/10.1016/j.braindev.2018.08.004
Autor:
Megumi Nukui, Yuka Hattori, Kiyohiro Kim, Masataka Fukuoka, Asako Horino, Hisashi Kawawaki, Ichiro Kuki, Shin Okazaki, Hitomi Tsuji
Publikováno v:
Brain and Development. 39:252-255
An 11-year-old boy presented with progressive leg hypesthesia but no history of trauma. Dysuria and constipation appeared subsequent to gait difficulty. He was admitted 8days after onset. Spinal magnetic resonance imaging (MRI) revealed longitudinal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::151d8c110bbf1bd3a2d3cf7a614c70e0
https://doi.org/10.1016/j.braindev.2016.09.007
https://doi.org/10.1016/j.braindev.2016.09.007
Autor:
Takehiro Uda, Yuka Hattori, Nobuhiko Okamoto, Sadami Kimura, Yoko Yoshida, Yasuhiro Suzuki, Naomichi Matsumoto, Kiyohiro Kim, Yukiko Mogami, Shin Okazaki, Hitomi Tsuji, Megumi Nukui, Masataka Fukuoka, Hisashi Kawawaki, Ichiro Kuki, Takeshi Inoue, Hirotomo Saitsu
Publikováno v:
Brain and Development. 39:80-83
The KCNT1 gene encodes the sodium-dependent potassium channel, with quinidine being a partial antagonist of the KCNT1 channel. Gain-of-function KCNT1 mutations cause early onset epileptic encephalopathies including migrating partial seizures of infan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a443bee6d233c643dcd7db27701e78d7
https://doi.org/10.1016/j.braindev.2016.08.002
https://doi.org/10.1016/j.braindev.2016.08.002
Autor:
Saya Koh, Megumi Nukui, Yasushi Iimura, Kiyohiro Kim, Yasuhiro Matsusaka, Noritsugu Kunihiro, Masao Matsuhashi, Takehiro Uda, Shin Okazaki, Masataka Fukuoka, Hiroshi Otsubo, Hisashi Kawawaki, Ichiro Kuki, Takeshi Inoue
Publikováno v:
Clinical Neurophysiology. 129:455-457
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::359ca3a327eb4dc82e32bd4e7e8ab026
https://doi.org/10.1016/j.clinph.2017.11.026
https://doi.org/10.1016/j.clinph.2017.11.026
Autor:
Hiroshi Rinka, Kiyohiro Kim, Jyunichi Ishikawa, Asako Horino, Megumi Nukui, Hisashi Kawawaki, Ichiro Kuki, Yuka Hattori, Shin Okazaki, Masataka Fukuoka, Yoko Yoshida, Hitomi Tsuji
Publikováno v:
Braindevelopment. 39(9)
We diagnosed a 3-year-old girl with acute transverse myelitis (ATM). She presented with weakness of the limbs and developed urination difficulty and respiratory disturbance. Magnetic resonance imaging revealed a symmetric area of high signal intensit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::497c5a122b340a441a76e860d281b4f8
https://pubmed.ncbi.nlm.nih.gov/28551037
https://pubmed.ncbi.nlm.nih.gov/28551037