Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Saki Uneoka"'
Autor:
Yu Katata, Saki Uneoka, Naoya Saijyo, Yu Aihara, Takamitsu Miyazoe, Shun Koyamaishi, Yoshitsugu Oikawa, Yuya Ito, Yu Abe, Yurika Numata‐Uematsu, Jun Takayama, Atsuo Kikuchi, Gen Tamiya, Mitsugu Uematsu, Shigeo Kure
Publikováno v:
American Journal of Medical Genetics Part A. 188:1293-1298
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15c0df32c99b0e455c77f4282b04f39c
https://doi.org/10.1002/ajmg.a.62629
https://doi.org/10.1002/ajmg.a.62629
Autor:
Takehiko Inui, Noriko Togashi, Moriei Shibuya, Hiroyuki Ida, Satoko Miyatake, Wakaba Endo, Naomi Hino-Fukuyo, Ichiro Nakashima, Kazuhiro Haginoya, Saki Uneoka, Akira Onuma, Yukimune Okubo, Naomichi Matsumoto, Kaori Kodama
Publikováno v:
Brain and Development. 43:1029-1032
Background The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature. Case presentation We present a long-term follow-up report of a patient with juvenile-onset Sandho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c41db8fd1caf1bcb26c26bc83ef53890
https://doi.org/10.1016/j.braindev.2021.06.007
https://doi.org/10.1016/j.braindev.2021.06.007
Autor:
Takuya Miyabayashi, Kazuhiro Haginoya, Wakaba Endo, Saki Uneoka, Noriko Togashi, Takehiko Inui, Ryo Sato, Yukimune Okubo, Moriei Shibuya, Naomichi Matsumoto, Kazutaka Jin, Atsushi Fujita
Publikováno v:
Brain and Development. 42:696-699
Background Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e826de425b0d34797825705322740550
https://doi.org/10.1016/j.braindev.2020.06.011
https://doi.org/10.1016/j.braindev.2020.06.011