{"created":"2023-05-15T12:36:18.099949+00:00","id":135,"links":{},"metadata":{"_buckets":{"deposit":"250828f1-2c70-4d2b-876d-6716f15c6b04"},"_deposit":{"created_by":7,"id":"135","owners":[7],"pid":{"revision_id":0,"type":"depid","value":"135"},"status":"published"},"_oai":{"id":"oai:shonan-ums.repo.nii.ac.jp:00000135","sets":["1","1:6"]},"author_link":["379","380","381"],"control_number":"135","item_10004_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2018-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"4","bibliographicPageEnd":"200","bibliographicPageStart":"190","bibliographicVolumeNumber":"35","bibliographic_titles":[{"bibliographic_title":"北海道作業療法"}]}]},"item_10004_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"脊髄性筋萎縮症(SMA)は、常染色体劣性遺伝形式をとり脊髄の前角細胞の変性による筋萎縮と進行性筋力低下を特徴とする遺伝性Motor neuron病である。Survival motor neuron 1(SMN1)遺伝子の欠失が原因で、SMN1から造られるSMN蛋白の欠損が脊髄前角細胞を含めたMotor neuronの変性による筋緊張低下、筋萎縮により筋力低下をもたらす。以前は診断には筋生検が必要であったが、最近はSMAの診断には非侵襲的な遺伝子診断に代わりその概要を述べた。治療には疾患修飾薬としてヌシネルセンの脊髄液の注入で運動発達の獲得が得られた。また、アデノ随伴ウイルス(AAV)ベクターを用いた遺伝子治療(1回の静脈内注射)が運動発達の大幅な獲得と死亡を減少させたことの概要を述べた。(著者抄録)","subitem_description_type":"Abstract"}]},"item_10004_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1349-4317","subitem_source_identifier_type":"PISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"舘, 延忠","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"379","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"須鎌, 康介","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"380","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"仙石, 泰仁","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"381","nameIdentifierScheme":"WEKO"}]}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"ディペンドウイルス","subitem_subject_scheme":"Other"},{"subitem_subject":"ベクター(遺伝子)","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝学的治療","subitem_subject_scheme":"Other"},{"subitem_subject":"*筋萎縮症-脊髄性(診断,治療)","subitem_subject_scheme":"Other"},{"subitem_subject":"心電図","subitem_subject_scheme":"Other"},{"subitem_subject":"骨格筋線維(病理学)","subitem_subject_scheme":"Other"},{"subitem_subject":"タンパク質スプライシング","subitem_subject_scheme":"Other"},{"subitem_subject":"治療成績","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝学的検査","subitem_subject_scheme":"Other"},{"subitem_subject":"Survival of Motor Neuron 1 Protein","subitem_subject_scheme":"Other"},{"subitem_subject":"Survival of Motor Neuron 2 Protein","subitem_subject_scheme":"Other"},{"subitem_subject":"リアルタイムPCR法","subitem_subject_scheme":"Other"},{"subitem_subject":"Nusinersen(治療的利用)","subitem_subject_scheme":"Other"},{"subitem_subject":"ヒト","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":"article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"脊髄性筋萎縮症の診断と治療の進歩","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"脊髄性筋萎縮症の診断と治療の進歩","subitem_title_language":"ja"}]},"item_type_id":"10004","owner":"7","path":["1","6"],"pubdate":{"attribute_name":"公開日","attribute_value":"2020-06-01"},"publish_date":"2020-06-01","publish_status":"0","recid":"135","relation_version_is_last":true,"title":["脊髄性筋萎縮症の診断と治療の進歩"],"weko_creator_id":"7","weko_shared_id":-1},"updated":"2024-06-05T07:14:04.298021+00:00"}