研究成果の刊行に関する一覧表
書籍
著者氏名 論文タイトル名 書籍全体の
編集者名 書 籍 名 出版社名 出版地 出版年 ページ なし
雑誌
発表者氏名 論文タイトル名 発表誌名 巻号 ページ 出版年
Takeguchi R, Takahas hi S, Akaba Y, Tanak a R, Nabatame S, Kur osawa K, Matsuishi T, Itoh M.
Early diagnosis of M ECP2 duplication syn drome: insights from a nationwide survey in Japan.
J Neurol Sci 422 117321 2021
Saikusa T, Kawaguchi M, Tanioka T, Nabat ame S, Takahasi S, Y uge K, Nagamitsu S, Takahashi T, Yamashi ta Y, Kobayashi Y, H irayama C, Kakuma T, Matsuishi T, Itoh M
Meaningful word acqu isitionis associated with walking abilit y over 10 years in R ett syndrome.
Brain Dev 42 705-712 2020
Akaba Y, Takahashi S, Takeguchi R, Tana ka R, Nabatame S, Sa itsu H, Matsumoto N
Phenotypic overlap b etween FOXG1 syndrom e and PDH deficienc y.
Clin Case Re p
9 1711-1715 2021
Ikeda S, Akamatsu C, Ijuin A, Nagashima A, Sasaki M, Mochizu ki A, Nagase H, Enom oto Y, Kuroda Y, Kur osawa K, Ishikawa H.
Prenatal diagnosis o f Fraser syndrome ca used by novel varian ts of FREM2.
Hum Genome V ar.
7 32 2020
Nishimura N, Kumaki T, Murakami H, Enomo to Y, Katsumata K, T oyoshima K, Kurosawa K.
Arthrogryposis multi plex congenita with polymicrogyria and i nfantile encephalopa thy caused by a nove l GRIN1 variant.
Hum Genome Var.
7 29 2020
Natsume J, Ishihara N, Azuma Y, Nakata T, Takeuchi T, Tanak a M, Sakaguchi Y, Ok ai Y, Ito Y, Yamamot o H, Ohno A, Kidokor o H, Hattori A, Naba tame S, Kato K.
Lenticular nuclei to thalamic ratio on P ET is useful for dia gnosis of GLUT1 defi ciency syndrome.
Brain Dev 43(1) 69-77 2021
Kagitani-Shimono K, Kato H, Kuwayama R, Tominaga K, Nabatame S, Kishima H, Hataz awa J, Taniike M.
Clinical evaluation of neuroinflammation in child-onset foca l epilepsy: a transl ocator protein PET s tudy.
J Neuroinfla mmation
18(1) 8 2021
