{"id":"https://openalex.org/W2002128467","doi":"https://doi.org/10.1007/s00380-014-0555-y","title":"A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia","display_name":"A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia","publication_year":2014,"publication_date":"2014-08-04","ids":{"openalex":"https://openalex.org/W2002128467","doi":"https://doi.org/10.1007/s00380-014-0555-y","mag":"2002128467","pmid":"https://pubmed.ncbi.nlm.nih.gov/25092222"},"language":"en","primary_location":{"id":"doi:10.1007/s00380-014-0555-y","doi":"https://doi.org/10.1007/s00380-014-0555-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00380-014-0555-y","pdf_url":null,"source":{"id":"https://openalex.org/S66479284","display_name":"Heart and Vessels","issn_l":"0910-8327","issn":["0910-8327","1615-2573"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart and Vessels","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5023218931","display_name":"Junko Arakawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Junko Arakawa","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan. junko_k1981@yahoo.co.jp","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan. junko_k1981@yahoo.co.jp","Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan. junko_k1981@yahoo.co.jp","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan. junko_k1981@yahoo.co.jp","institution_ids":["https://openalex.org/I4405257639"]},{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110183802","display_name":"Akira Hamabe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Hamabe","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016058595","display_name":"Takeshi Aiba","orcid":"https://orcid.org/0000-0003-1779-7282","observed_orcids":["https://orcid.org/0000-0003-1779-7282","https://orcid.org/0000-0001-5590-7388"]},"institutions":[{"id":"https://openalex.org/I4210111404","display_name":"National Cerebral and Cardiovascular Center","ror":"https://ror.org/01v55qb38","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210111404"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takeshi Aiba","raw_affiliation_strings":["Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan","institution_ids":["https://openalex.org/I4210111404"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009611373","display_name":"Tomoo Nagai","orcid":"https://orcid.org/0000-0002-1552-6369","observed_orcids":["https://orcid.org/0000-0002-1552-6369"]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tomoo Nagai","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111621882","display_name":"Mikoto Yoshida","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Mikoto Yoshida","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088951269","display_name":"Takumi Toya","orcid":"https://orcid.org/0000-0002-4681-2798","observed_orcids":["https://orcid.org/0000-0002-4681-2798"]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takumi Touya","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069084767","display_name":"Norio Ishigami","orcid":"https://orcid.org/0000-0002-9739-1006","observed_orcids":["https://orcid.org/0000-0002-9739-1006"]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Norio Ishigami","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082957940","display_name":"Hideki Hisadome","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideki Hisadome","raw_affiliation_strings":["Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025903977","display_name":"Shuichi Katsushika","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shuichi Katsushika","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104043288","display_name":"Hirotsugu Tabata","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210152683","display_name":"Self-Defense Forces Central Hospital","ror":"https://ror.org/05jr18655","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210152683"]},{"id":"https://openalex.org/I4405257639","display_name":"Mishuku Hospital","ror":"https://ror.org/05gbd1t94","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4405257639"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hirotsugu Tabata","raw_affiliation_strings":["Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Japan Self-Defense Forces Central Hospital, Ikejiri 1-2-24, Setagaya-ku, Tokyo, 154-8532, Japan","institution_ids":["https://openalex.org/I4210152683"]},{"raw_affiliation_string":"Department of Cardiology, KKR Mishuku Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4405257639"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064352051","display_name":"Yoshihiro Miyamoto","orcid":"https://orcid.org/0000-0002-1337-0508","observed_orcids":["https://orcid.org/0000-0002-1337-0508"]},"institutions":[{"id":"https://openalex.org/I4210111404","display_name":"National Cerebral and Cardiovascular Center","ror":"https://ror.org/01v55qb38","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210111404"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshihiro Miyamoto","raw_affiliation_strings":["Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Molecular Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan","institution_ids":["https://openalex.org/I4210111404"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5010491253","display_name":"Wataru Shimizu","orcid":"https://orcid.org/0000-0001-9941-8973","observed_orcids":["https://orcid.org/0000-0001-9941-8973"]},"institutions":[{"id":"https://openalex.org/I4210111404","display_name":"National Cerebral and Cardiovascular Center","ror":"https://ror.org/01v55qb38","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210111404"]},{"id":"https://openalex.org/I80188885","display_name":"Nippon Medical School","ror":"https://ror.org/00krab219","country_code":"JP","type":"education","lineage":["https://openalex.org/I80188885"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Wataru Shimizu","raw_affiliation_strings":["Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan","Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan","institution_ids":["https://openalex.org/I4210111404"]},{"raw_affiliation_string":"Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan","institution_ids":["https://openalex.org/I80188885"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5023218931"],"corresponding_institution_ids":["https://openalex.org/I4210152683","https://openalex.org/I4405257639"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":1.2843,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.80834591,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"30","issue":"6","first_page":"835","last_page":"840"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9463000297546387,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9463000297546387,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.052400000393390656,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/ryanodine-receptor-2","display_name":"RyR2","score":0.8830000162124634},{"id":"https://openalex.org/keywords/catecholaminergic-polymorphic-ventricular-tachycardia","display_name":"catecholaminergic polymorphic ventricular tachycardia","score":0.9789999723434448},{"id":"https://openalex.org/keywords/sudden-cardiac-death-in-athletes","display_name":"sudden cardiac death in athletes","score":0.8790000081062317},{"id":"https://openalex.org/keywords/novel-missense-mutation","display_name":"novel missense mutation","score":0.7739999890327454},{"id":"https://openalex.org/keywords/channelopathies","display_name":"channelopathies","score":0.9559999704360962},{"id":"https://openalex.org/keywords/inherited-arrhythmia-syndromes","display_name":"inherited arrhythmia","score":0.8130000233650208},{"id":"https://openalex.org/keywords/ventricular-fibrillation","display_name":"ventricular fibrillation","score":0.7940000295639038}],"concepts":[{"id":"https://openalex.org/C2778178275","wikidata":"https://www.wikidata.org/wiki/Q1649897","display_name":"Catecholaminergic polymorphic ventricular tachycardia","level":5,"score":0.9737589359283447},{"id":"https://openalex.org/C190712762","wikidata":"https://www.wikidata.org/wiki/Q18031341","display_name":"Ryanodine receptor 2","level":4,"score":0.8714271187782288},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8154370784759521},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.7529457807540894},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7247827649116516},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.683894693851471},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6639899015426636},{"id":"https://openalex.org/C113217602","wikidata":"https://www.wikidata.org/wiki/Q416781","display_name":"Ryanodine receptor","level":3,"score":0.5349435210227966},{"id":"https://openalex.org/C2779703243","wikidata":"https://www.wikidata.org/wiki/Q653924","display_name":"Long QT syndrome","level":3,"score":0.5181111693382263},{"id":"https://openalex.org/C2777382798","wikidata":"https://www.wikidata.org/wiki/Q599683","display_name":"Brugada syndrome","level":2,"score":0.5002117156982422},{"id":"https://openalex.org/C2776331378","wikidata":"https://www.wikidata.org/wiki/Q56002","display_name":"Ventricular tachycardia","level":2,"score":0.4957753121852875},{"id":"https://openalex.org/C2779578097","wikidata":"https://www.wikidata.org/wiki/Q1484058","display_name":"Short QT syndrome","level":4,"score":0.48398423194885254},{"id":"https://openalex.org/C2778789114","wikidata":"https://www.wikidata.org/wiki/Q235007","display_name":"Cardiac surgery","level":2,"score":0.4821871817111969},{"id":"https://openalex.org/C2780185194","wikidata":"https://www.wikidata.org/wiki/Q1364270","display_name":"Hypertrophic cardiomyopathy","level":2,"score":0.47795653343200684},{"id":"https://openalex.org/C2993353509","wikidata":"https://www.wikidata.org/wiki/Q411867","display_name":"Sudden death","level":2,"score":0.467829167842865},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.21565181016921997},{"id":"https://openalex.org/C118441451","wikidata":"https://www.wikidata.org/wiki/Q12074763","display_name":"QT interval","level":2,"score":0.12942278385162354},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.11582037806510925},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07623705267906189},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.07338401675224304},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.05098167061805725}],"mesh":[{"descriptor_ui":"D000098850","descriptor_name":"Polymorphic Catecholaminergic Ventricular Tachycardia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004562","descriptor_name":"Electrocardiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006321","descriptor_name":"Heart","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016757","descriptor_name":"Death, Sudden, Cardiac","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D017147","descriptor_name":"Defibrillators, Implantable","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017180","descriptor_name":"Tachycardia, Ventricular","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D019837","descriptor_name":"Ryanodine Receptor Calcium Release Channel","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056352","descriptor_name":"Athletes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s00380-014-0555-y","doi":"https://doi.org/10.1007/s00380-014-0555-y","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00380-014-0555-y","pdf_url":null,"source":{"id":"https://openalex.org/S66479284","display_name":"Heart and Vessels","issn_l":"0910-8327","issn":["0910-8327","1615-2573"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart and Vessels","raw_type":"journal-article"},{"id":"pmid:25092222","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25092222","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart and vessels","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9907000064849854}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G4067460379","display_name":"Genetic-based risk of sudden arrhythmic death in the Brugada syndrome","funder_award_id":"24591086","funder_id":"https://openalex.org/F4320334764","funder_display_name":"Japan Society for the Promotion of Science"}],"funders":[{"id":"https://openalex.org/F4320316982","display_name":"National Cerebral and Cardiovascular Center","ror":"https://ror.org/01v55qb38"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":34,"referenced_works":["https://openalex.org/W382962432","https://openalex.org/W1967658895","https://openalex.org/W1975156683","https://openalex.org/W1984902687","https://openalex.org/W1985106132","https://openalex.org/W1986652655","https://openalex.org/W2005782666","https://openalex.org/W2014917932","https://openalex.org/W2015635823","https://openalex.org/W2019832884","https://openalex.org/W2032816757","https://openalex.org/W2046336333","https://openalex.org/W2055928084","https://openalex.org/W2063084121","https://openalex.org/W2072499242","https://openalex.org/W2076193115","https://openalex.org/W2081524260","https://openalex.org/W2090820454","https://openalex.org/W2098359596","https://openalex.org/W2098460431","https://openalex.org/W2100477955","https://openalex.org/W2107558033","https://openalex.org/W2119956887","https://openalex.org/W2126428415","https://openalex.org/W2128252055","https://openalex.org/W2130124702","https://openalex.org/W2147490644","https://openalex.org/W2148181502","https://openalex.org/W2150917322","https://openalex.org/W2155338686","https://openalex.org/W2166004591","https://openalex.org/W2464511637","https://openalex.org/W4243064488","https://openalex.org/W4253306252"],"related_works":["https://openalex.org/W2409257516","https://openalex.org/W3037962098","https://openalex.org/W4400664133","https://openalex.org/W3203222555","https://openalex.org/W4400387732","https://openalex.org/W4408365047","https://openalex.org/W4392396544","https://openalex.org/W1975156683","https://openalex.org/W3129419069","https://openalex.org/W2626644245"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
