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A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
http://hdl.handle.net/10091/00021327
http://hdl.handle.net/10091/000213276fffaea1-d3d7-4aa2-b1e8-aa40a420a5a1
名前 / ファイル | ライセンス | アクション |
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2019-03-18 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Paroxysmal exertion-induced dyskinesia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Channelopathy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CACNA1A | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SLC2A1 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Phenotypic overlap | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Ogawa, Yuka
× Ogawa, Yuka× Nakamura, Katsuya× Ezawa, Naoki× Yamaguchi, Tomomi× Yoshinaga, Tsuneaki× Miyazaki, Daigo× Kosho, Tomoki× Sekijima, Yoshiki |
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信州大学研究者総覧へのリンク | ||||||
氏名 | Nakamura, Katsuya | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.jFSVbVym.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Yamaguchi, Tomomi | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.uayNWUkh.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Yoshinaga, Tsuneaki | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.yVTmbVym.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Kosho, Tomoki | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.uhfpuakh.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Sekijima, Yoshiki | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html | |||||
出版者 | ||||||
出版者 | ELSEVIER SCIENCE BV | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | JOURNAL OF THE NEUROLOGICAL SCIENCES. 399:214-216 (2019) | |||||
書誌情報 |
JOURNAL OF THE NEUROLOGICAL SCIENCES 巻 399, p. 214-216, 発行日 2019-04-15 |
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資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0022-510X | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00703265 | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/30852237 | |||||
関連名称 | 30852237 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1016/j.jns.2019.02.040 | |||||
関連名称 | 10.1016/j.jns.2019.02.040 | |||||
権利 | ||||||
権利情報 | © 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
出版タイプ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
WoS | ||||||
表示名 | Web of Science | |||||
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