Zobrazeno 1 - 4 of 4 pro vyhledávání: '"Saki Uneoka"'
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A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
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
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3
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
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
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Plný text Recenzováno Digitální knihovna AV ČR
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