WEKO3
アイテム
Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation
http://hdl.handle.net/10091/17368
http://hdl.handle.net/10091/17368d54da8cf-eb13-4bd3-acc7-70ecbe65fcbb
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ALS_with_SOD1_C111Y_Manuscript_final version.pdf (401.5 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2014-01-31 | |||||
| タイトル | ||||||
| タイトル | Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.3109/17482968.2011.656311 | |||||
| 関連名称 | 10.3109/17482968.2011.656311 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Familial amyotrophic lateral sclerosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | spinal muscular atrophy | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | copper/zinc superoxide dismutase (SOD1) | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | gene analysis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | slow progression | |||||
| 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 |
Nakamura, Akinori
× Nakamura, Akinori× Hineno, Akiyo× Yoshida, Kunihiro× Sekijima, Yoshiki× Hanaoka-Tachibana, Naoko× Takei, Yo-Ichi× Ohara, Shinji× 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 | https://soar-rd.shinshu-u.ac.jp/profile/ja.yhfNHFkh.html | |||||
| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | Sekijima, Yoshiki | |||||
| URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html | |||||
| 出版者 | ||||||
| 出版者 | INFORMA HEALTHCARE | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | AMYOTROPHIC LATERAL SCLEROSIS. 13(5):479-486 (2012) | |||||
| 書誌情報 |
AMYOTROPHIC LATERAL SCLEROSIS 巻 13, 号 5, p. 479-486, 発行日 2012-09 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Our objectives were to identify the disease-causing mutation in, and report on the clinical features of, a Japanese family that had coexisting phenotypes of amyotrophic lateral sclerosis and spinal muscular atrophy. The family comprised nine patients (six men and three women). We reviewed their clinical records and performed mutation analysis of the copper/zinc superoxide dismutase (SOD1) gene in some of these patients. The patients either had a rapid (n = 7) or an extremely long (n = 2) clinical course. The mean age at onset was 39.0 +/- 13.7 years (range 20-68 years). The initial symptoms were bulbar palsy (n = 2), upper (n = 4) or lower (n = 2) limb muscle weakness, or leg cramps (n = 1). The total disease duration varied widely, ranging from one year to >69 years. We identified a SOD1 C111Y mutation among patients in this family. In conclusion, the family showed a marked intrafamilial phenotypic variation associated with the SOD1 C111Y mutation. Elucidating the biological basis of disease expression in patients with the SOD1 C111Y mutation may provide us with useful information to develop therapeutic approaches and to prevent disease progression. | |||||
| 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 | 1748-2968 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA12232778 | |||||
| PubMed | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/22409359 | |||||
| 関連名称 | 22409359 | |||||
| 権利 | ||||||
| 権利情報 | Copyright© 2012 Informa Healthcare | |||||
| 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 | |||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000307585200014 | |||||
