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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 | |||||||||||||||
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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 | |||||||||||||||
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主題 | HDLS, CSF1R, de novo mutation, corpus callosum | |||||||||||||||
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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 | 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 | 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) | ||||||||||||||||
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収録物識別子タイプ | PISSN | |||||||||||||||
収録物識別子 | 0918-2918 | |||||||||||||||
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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 | ||||||||||||||||
URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000318244500016 |
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Kondo, Yasufumi, Kinoshita, Michiaki, Fukushima, Kazuhiro, Yoshida, Kunihiro, Ikeda, Shu-ichi, 2013, Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R: JAPAN SOC INTERNAL MEDICINE, 503–506 p.
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