{"id":"https://openalex.org/W4403112352","doi":"https://doi.org/10.1016/j.nmd.2024.07.650","title":"508P Clinical and genetic features of patients with myotonia congenita in Korea","display_name":"508P Clinical and genetic features of patients with myotonia congenita in Korea","publication_year":2024,"publication_date":"2024-10-01","ids":{"openalex":"https://openalex.org/W4403112352","doi":"https://doi.org/10.1016/j.nmd.2024.07.650"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2024.07.650","doi":"https://doi.org/10.1016/j.nmd.2024.07.650","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2024.07.650","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5101974351","display_name":"Youngha Choi","orcid":"https://orcid.org/0000-0002-1607-6048","observed_orcids":["https://orcid.org/0000-0002-1607-6048"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y. Choi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"S. Kim","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S. Kim","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085570823","display_name":"Ji Man Hong","orcid":"https://orcid.org/0000-0001-6803-1207","observed_orcids":["https://orcid.org/0000-0001-6803-1207"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Hong","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"H. Park","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Park","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5101974351","display_name":"Youngha Choi","orcid":"https://orcid.org/0000-0002-1607-6048","observed_orcids":["https://orcid.org/0000-0002-1607-6048"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y. Choi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3620,"currency":"USD","value_usd":3620},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.14807243,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"43","issue":null,"first_page":"104441.641","last_page":"104441.641"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.5625,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.5625,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.1842000037431717,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.12759999930858612,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/myotonia-congenita","display_name":"myotonia congenita","score":0.9990000128746033},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8690000176429749},{"id":"https://openalex.org/keywords/genetic-characteristics","display_name":"genetic characteristics","score":0.9810000061988831},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7120000123977661},{"id":"https://openalex.org/keywords/korean-patients","display_name":"Korean patients","score":0.6830000281333923}],"concepts":[{"id":"https://openalex.org/C2776767690","wikidata":"https://www.wikidata.org/wiki/Q587420","display_name":"Myotonia congenita","level":4,"score":0.9481127858161926},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6287781000137329},{"id":"https://openalex.org/C2780304057","wikidata":"https://www.wikidata.org/wiki/Q1277793","display_name":"Myotonia","level":3,"score":0.5113741755485535},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.37939614057540894},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3263976573944092},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1991797387599945},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13233673572540283},{"id":"https://openalex.org/C2778063965","wikidata":"https://www.wikidata.org/wiki/Q1860507","display_name":"Myotonic dystrophy","level":2,"score":0.12909358739852905}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.nmd.2024.07.650","doi":"https://doi.org/10.1016/j.nmd.2024.07.650","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2024.07.650","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2599198990","https://openalex.org/W2591559653","https://openalex.org/W1457913452","https://openalex.org/W2436287959","https://openalex.org/W4403136023","https://openalex.org/W2945317380","https://openalex.org/W4403112331","https://openalex.org/W2319519736","https://openalex.org/W2425997614","https://openalex.org/W615029887"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-10-04T00:00:00"}
