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Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
http://hdl.handle.net/10091/17635
http://hdl.handle.net/10091/1763532783876-ce23-47fe-94ad-28a460f7c5ba
| 名前 / ファイル | ライセンス | アクション |
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Early_Involvement_Corpus_Callosum_Patient.pdf (1.6 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2014-06-20 | |||||
| タイトル | ||||||
| タイトル | Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 関連識別子 | https://doi.org/10.2169/internalmedicine.52.8879 | |||||
| 関連名称 | 10.2169/internalmedicine.52.8879 | |||||
| キーワード | ||||||
| 主題 | HDLS, CSF1R, de novo mutation, corpus callosum | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Kondo, Yasufumi
× Kondo, Yasufumi× Kinoshita, Michiaki× Fukushima, Kazuhiro× Yoshida, Kunihiro× Ikeda, Shu-ichi |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Yoshida, Kunihiro | |||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html | |||||
| 出版者 | ||||||
| 出版者 | JAPAN SOC INTERNAL MEDICINE | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | INTERNAL MEDICINE. 52(4):503-506 (2013) | |||||
| 書誌情報 |
INTERNAL MEDICINE 巻 52, 号 4, p. 503-506, 発行日 2013 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | We herein report the case of a 41-year-old Japanese man with hereditary diffuse leukoencephalopathy with spheroids (HDLS) who carried the de novo K793T mutation in the colony-stimulating factor 1 receptor gene (CSF1R). He showed a gradual decline of his cognitive and mental functions over the following six months. On brain MRI, a thin corpus callosum with T2- and FLAIR-high signal intensity in the splenium was conspicuous, whereas cerebral deep and periventricular white matter lesions were mild. We propose that a diagnosis of HDLS should be considered in patients with presenile dementia presenting with corpus callosum lesions on MRI, even in cases with a lack of any apparent family history. | |||||
| 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 | 0918-2918 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA10827774 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/23411710 | |||||
| 関連名称 | 23411710 | |||||
| 権利 | ||||||
| 権利情報 | Copyright© 2013 The Japanese Society of Internal Medicine | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| WoS | ||||||
| 表示名 | Web of Science | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000318244500016 | |||||
