{"created":"2021-03-01T06:23:28.102745+00:00","id":18684,"links":{},"metadata":{"_buckets":{"deposit":"8326542b-68a1-4a59-bbe2-540c73f4223e"},"_deposit":{"id":"18684","owners":[],"pid":{"revision_id":0,"type":"depid","value":"18684"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00018684","sets":["453:456","471:537:538:1139"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Molecular Genetics of Dentatorubral-Pallidoluysian Atriohy (DRPLA) (Pathophysiology of Hereditary Neurologic Diseases)"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1995-04","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"190","bibliographicPageStart":"185","bibliographicVolumeNumber":"109","bibliographic_titles":[{"bibliographic_title":"新潟医学会雑誌"},{"bibliographic_title":"新潟医学会雑誌","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"116774","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Koide, Reiji"}]},{"nameIdentifiers":[{"nameIdentifier":"116775","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Ikeuchi, Takeshi"}]},{"nameIdentifiers":[{"nameIdentifier":"116776","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Onodera, Osamu"}]},{"nameIdentifiers":[{"nameIdentifier":"116777","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Tanaka, Hajime"}]},{"nameIdentifiers":[{"nameIdentifier":"116778","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Igarashi, Shuichi"}]},{"nameIdentifiers":[{"nameIdentifier":"116779","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Endo, Kotaro"}]},{"nameIdentifiers":[{"nameIdentifier":"116780","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Tsuji, Shoji"}]},{"nameIdentifiers":[{"nameIdentifier":"116781","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Takahashi, Hitoshi"}]},{"nameIdentifiers":[{"nameIdentifier":"116782","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Ikuta, Fusahiro"}]},{"nameIdentifiers":[{"nameIdentifier":"116783","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Kondo, Rui"}]},{"nameIdentifiers":[{"nameIdentifier":"116784","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Hayashi, Tsunemi"}]},{"nameIdentifiers":[{"nameIdentifier":"116785","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Saito, Masaaki"}]},{"nameIdentifiers":[{"nameIdentifier":"116786","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Ishikawa, Atsushi"}]},{"nameIdentifiers":[{"nameIdentifier":"116787","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Tomoda, Akemi"}]},{"nameIdentifiers":[{"nameIdentifier":"116788","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Miike, Teruhisa"}]},{"nameIdentifiers":[{"nameIdentifier":"116789","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Naito, Haruhiko"}]}]},"item_7_publisher_7":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"新潟医学会"}]},"item_7_select_19":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_7_source_id_11":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AN00182415","subitem_source_identifier_type":"NCID"}]},"item_7_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00290440","subitem_source_identifier_type":"ISSN"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"小出, 玲爾"}],"nameIdentifiers":[{"nameIdentifier":"116758","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"池内, 健"}],"nameIdentifiers":[{"nameIdentifier":"116759","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"小野寺, 理"}],"nameIdentifiers":[{"nameIdentifier":"116760","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"田中, 一"}],"nameIdentifiers":[{"nameIdentifier":"116761","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"五十嵐, 修一"}],"nameIdentifiers":[{"nameIdentifier":"116762","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"遠藤, 耕太郎"}],"nameIdentifiers":[{"nameIdentifier":"116763","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"辻, 省次"}],"nameIdentifiers":[{"nameIdentifier":"116764","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"高橋, 均"}],"nameIdentifiers":[{"nameIdentifier":"116765","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"生田, 房弘"}],"nameIdentifiers":[{"nameIdentifier":"116766","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"近藤, 類"}],"nameIdentifiers":[{"nameIdentifier":"116767","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"林, 恒美"}],"nameIdentifiers":[{"nameIdentifier":"116768","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"斎藤, 正明"}],"nameIdentifiers":[{"nameIdentifier":"116769","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"石川, 厚"}],"nameIdentifiers":[{"nameIdentifier":"116770","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"友田, 明美"}],"nameIdentifiers":[{"nameIdentifier":"116771","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"三池, 輝久"}],"nameIdentifiers":[{"nameIdentifier":"116772","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"内藤, 明彦"}],"nameIdentifiers":[{"nameIdentifier":"116773","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-08-08"}],"displaytype":"detail","filename":"109(4)_185-190.pdf","filesize":[{"value":"1.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"109(4)_185-190.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/18684/files/109(4)_185-190.pdf"},"version_id":"985d8166-32d3-40dc-bdeb-74dd17479702"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Dentatorubral-pallidoluysian atrophy (DRPLA)","subitem_subject_scheme":"Other"},{"subitem_subject":"CAG repeat","subitem_subject_scheme":"Other"},{"subitem_subject":"chromosome 12","subitem_subject_scheme":"Other"},{"subitem_subject":"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"],"pubdate":{"attribute_name":"公開日","attribute_value":"2016-06-27"},"publish_date":"2016-06-27","publish_status":"0","recid":"18684","relation_version_is_last":true,"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)"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:49:46.641084+00:00"}