Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Noriyuki Akasaka"'
Autor:
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized
Externí odkaz:
https://doaj.org/article/8c9ba6e51dcb45b48775cdd7c561dd8e
Autor:
Kazushi Aoto, Mitsuhiro Kato, Tenpei Akita, Mitsuko Nakashima, Hiroki Mutoh, Noriyuki Akasaka, Jun Tohyama, Yoshiko Nomura, Kyoko Hoshino, Yasuhiko Ago, Ryuta Tanaka, Orna Epstein, Revital Ben-Haim, Eli Heyman, Takehiro Miyazaki, Hazrat Belal, Shuji Takabayashi, Chihiro Ohba, Atsushi Takata, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
A member of the vacuolar H+-ATPase family, ATP6V0A1 is involved in lysosomal activity. Here, the authors report that ATP6V0A1 variants identified in individuals with developmental and epileptic encephalopathy are associated with impairment of lysosom
Externí odkaz:
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
Autor:
Yukitoshi Takahashi, Kazumi Matsuda, Yuko Kubota, Jiro Shimomura, Etsuko Yamasaki, Tatsuya Kudo, Katsuyuki Fukushima, Hitoshi Osaka, Noriyuki Akasaka, Atsushi Imamura, Shinji Yamada, Naomi Kondo, Tateki Fujiwara
Publikováno v:
Clinical and Developmental Immunology, Vol 13, Iss 2-4, Pp 381-387 (2006)
Rasmussen syndrome is an intractable epilepsy with a putative causal relation with cellular and humoral autoimmunity. Almost half of the patients have some preceding causative factors, with infections found in 38.2%, vaccinations in 5.9% and head tra
Externí odkaz:
https://doaj.org/article/2f63fddd634c494598c9f5429b51d1de
Autor:
Shuji Takabayashi, Hiroki Mutoh, Naomichi Matsumoto, Mitsuhiro Kato, Takeshi Mizuguchi, Mitsuko Nakashima, Yasuhiko Ago, Revital Ben-Haim, Kazushi Aoto, Atsuo Fukuda, Kyoko Hoshino, Hirotomo Saitsu, Noriyuki Akasaka, Yoshiko Nomura, Noriko Miyake, Eli Heyman, Atsushi Takata, Hazrat Belal, Orna Epstein, Tenpei Akita, Takehiro Miyazaki, Jun Tohyama, Satoko Miyatake, Chihiro Ohba, Ryuta Tanaka
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-17 (2021)
Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66b51633843a8fae49fd8c91a93dbd6
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
https://doaj.org/article/7bc108343b5a4de8a62d1fd709f2183f
Publikováno v:
Neuropediatrics. 50(6)
The complication of anarthria in hereditary spastic paraplegia (HSP) patients has been reported to result from mutations in either ALS2 or FA2H. Here, we present a case of a 12-year-old boy with hereditary spastic paralysis and anarthria associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e847cea66d820d16abe7363041c7216e
https://pubmed.ncbi.nlm.nih.gov/31486053
https://pubmed.ncbi.nlm.nih.gov/31486053
Autor:
Kazushi, Aoto, Mitsuhiro, Kato, Tenpei, Akita, Mitsuko, Nakashima, Hiroki, Mutoh, Noriyuki, Akasaka, Jun, Tohyama, Yoshiko, Nomura, Kyoko, Hoshino, Yasuhiko, Ago, Ryuta, Tanaka, Orna, Epstein, Revital, Ben-Haim, Eli, Heyman, Takehiro, Miyazaki, Hazrat, Belal, Shuji, Takabayashi, Chihiro, Ohba, Atsushi, Takata, Takeshi, Mizuguchi, Satoko, Miyatake, Noriko, Miyake, Atsuo, Fukuda, Naomichi, Matsumoto, Hirotomo, Saitsu
Publikováno v:
Nature Communications
Vacuolar H+-ATPases (V-ATPases) transport protons across cellular membranes to acidify various organelles. ATP6V0A1 encodes the a1-subunit of the V0 domain of V-ATPases, which is strongly expressed in neurons. However, its role in brain development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::741d13345238d1e6f03e32f3f37cc28f
https://pubmed.ncbi.nlm.nih.gov/33833240
https://pubmed.ncbi.nlm.nih.gov/33833240
Autor:
Hideshi Kawashima, Sawako Yamazaki, Shinichi Magara, Noriyuki Akasaka, Yu Kobayashi, Jun Tohyama
Publikováno v:
Brain and Development. 37:725-728
We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08da1590553c0c296edf5e558d0057b2
https://doi.org/10.1016/j.braindev.2014.11.004
https://doi.org/10.1016/j.braindev.2014.11.004
Autor:
Yoko Ohtsuka, Yuki Anzai, Eiji Nakagawa, Noriyuki Akasaka, Hideo Shigematsu, Harumi Yoshinaga
Publikováno v:
Journal of the Japan Epilepsy Society. 32:13-24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95cc05217db5fdb426052558e031f6b6
https://doi.org/10.3805/jjes.32.13
https://doi.org/10.3805/jjes.32.13
Publikováno v:
Brain and Development. 37:356-358
Gomez–Lopez-Hernandez syndrome (GLHS) is a rare neurocutaneous syndrome characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, and bilateral parieto-occipital alopecia. We herein describe the first Japanese patient with GLHS c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf480072498f64b086f854a792645769
https://doi.org/10.1016/j.braindev.2014.05.002
https://doi.org/10.1016/j.braindev.2014.05.002
Autor:
Jun Tohyama, Noriyuki Akasaka, Tomoyuki Akiyama, Naomichi Matsumoto, Yu Kobayashi, Shinichi Magara, Hirotomo Saitsu, Mitsuko Nakashima, Hideshi Kawashima
Publikováno v:
Braindevelopment. 39(3)
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epileps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93dd47a5cdd51a9ccf60404b0a20a7e2
https://pubmed.ncbi.nlm.nih.gov/27743887
https://pubmed.ncbi.nlm.nih.gov/27743887