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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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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 | ||||||
言語 | en | |||||
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 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | HDLS | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CSF1R | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | de novo mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | corpus callosum | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
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 | ||||||
氏名 | 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 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.2169/internalmedicine.52.8879 | |||||
関連名称 | 10.2169/internalmedicine.52.8879 | |||||
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 |