WEKO3
アイテム
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"歯状核赤核淡蒼球ルイ体萎縮症", "subitem_subject_scheme": "Other"}, {"subitem_subject": "GAG リピート", "subitem_subject_scheme": "Other"}, {"subitem_subject": "第12染色体", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "jpn"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)"}, {"subitem_title": "6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["456", "1139"], "permalink_uri": "http://hdl.handle.net/10191/42317", "pubdate": {"attribute_name": "公開日", 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6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会)
http://hdl.handle.net/10191/42317
http://hdl.handle.net/10191/4231759246de5-503d-4e28-9da6-dad36b149807
名前 / ファイル | ライセンス | アクション |
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109(4)_185-190.pdf (1.1 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2016-06-27 | |||||
タイトル | ||||||
タイトル | 6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | 6)遺伝性歯状核赤核淡蒼球ルイ体萎縮症(DRPLA) : 分子遺伝学の立場から(シンポジウム 分子遺伝病の臨床と病理, 第494回新潟医学会) | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Dentatorubral-pallidoluysian atrophy (DRPLA) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CAG repeat | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | chromosome 12 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 歯状核赤核淡蒼球ルイ体萎縮症 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | GAG リピート | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 第12染色体 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | Molecular Genetics of Dentatorubral-Pallidoluysian Atriohy (DRPLA) (Pathophysiology of Hereditary Neurologic Diseases) | |||||
著者 |
小出, 玲爾
× 小出, 玲爾× 池内, 健× 小野寺, 理× 田中, 一× 五十嵐, 修一× 遠藤, 耕太郎× 辻, 省次× 高橋, 均× 生田, 房弘× 近藤, 類× 林, 恒美× 斎藤, 正明× 石川, 厚× 友田, 明美× 三池, 輝久× 内藤, 明彦 |
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著者別名 | ||||||
識別子 | 116774 | |||||
識別子Scheme | WEKO | |||||
姓名 | Koide, Reiji | |||||
著者別名 | ||||||
識別子 | 116775 | |||||
識別子Scheme | WEKO | |||||
姓名 | Ikeuchi, Takeshi | |||||
著者別名 | ||||||
識別子 | 116776 | |||||
識別子Scheme | WEKO | |||||
姓名 | Onodera, Osamu | |||||
著者別名 | ||||||
識別子 | 116777 | |||||
識別子Scheme | WEKO | |||||
姓名 | Tanaka, Hajime | |||||
著者別名 | ||||||
識別子 | 116778 | |||||
識別子Scheme | WEKO | |||||
姓名 | Igarashi, Shuichi | |||||
著者別名 | ||||||
識別子 | 116779 | |||||
識別子Scheme | WEKO | |||||
姓名 | Endo, Kotaro | |||||
著者別名 | ||||||
識別子 | 116780 | |||||
識別子Scheme | WEKO | |||||
姓名 | Tsuji, Shoji | |||||
著者別名 | ||||||
識別子 | 116781 | |||||
識別子Scheme | WEKO | |||||
姓名 | Takahashi, Hitoshi | |||||
著者別名 | ||||||
識別子 | 116782 | |||||
識別子Scheme | WEKO | |||||
姓名 | Ikuta, Fusahiro | |||||
著者別名 | ||||||
識別子 | 116783 | |||||
識別子Scheme | WEKO | |||||
姓名 | Kondo, Rui | |||||
著者別名 | ||||||
識別子 | 116784 | |||||
識別子Scheme | WEKO | |||||
姓名 | Hayashi, Tsunemi | |||||
著者別名 | ||||||
識別子 | 116785 | |||||
識別子Scheme | WEKO | |||||
姓名 | Saito, Masaaki | |||||
著者別名 | ||||||
識別子 | 116786 | |||||
識別子Scheme | WEKO | |||||
姓名 | Ishikawa, Atsushi | |||||
著者別名 | ||||||
識別子 | 116787 | |||||
識別子Scheme | WEKO | |||||
姓名 | Tomoda, Akemi | |||||
著者別名 | ||||||
識別子 | 116788 | |||||
識別子Scheme | WEKO | |||||
姓名 | Miike, Teruhisa | |||||
著者別名 | ||||||
識別子 | 116789 | |||||
識別子Scheme | WEKO | |||||
姓名 | Naito, Haruhiko | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By directly searching for cDNAs with CAG repeats as candidates, we found unstable expansion of CAG repeat of a gene (CTG-B37) on chromosome 12 in all the 22 DRPLA patients. There is a good correlation between the sizes of CAG repeat expansion and the ages of onset. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. Thus wide variety of its clinical manifestations can now be explained by the variable unstable expansion of the CAG repeat. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 109, 号 4, p. 185-190, 発行日 1995-04 |
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出版者 | ||||||
出版者 | 新潟医学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 00290440 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00182415 | |||||
著者版フラグ | ||||||
値 | publisher |