{"id":"https://openalex.org/W3089660547","doi":"https://doi.org/10.1016/j.nmd.2020.08.004","title":"NEW GENES IN NEUROMUSCULAR DISEASES","display_name":"NEW GENES IN NEUROMUSCULAR DISEASES","publication_year":2020,"publication_date":"2020-09-28","ids":{"openalex":"https://openalex.org/W3089660547","doi":"https://doi.org/10.1016/j.nmd.2020.08.004","mag":"3089660547"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2020.08.004","doi":"https://doi.org/10.1016/j.nmd.2020.08.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2020.08.004","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","is_traditional":true,"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/A5061142650","display_name":"Michio Inoue","orcid":"https://orcid.org/0000-0003-2757-3266","observed_orcids":["https://orcid.org/0000-0003-2757-3266"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"M. Inoue","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085142912","display_name":"Aritoshi Iida","orcid":"https://orcid.org/0000-0001-7538-1651","observed_orcids":["https://orcid.org/0000-0001-7538-1651"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"A. Iida","raw_affiliation_strings":["Medical Genome Center, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genome Center, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061732254","display_name":"Kaoru Watanabe","orcid":"https://orcid.org/0009-0000-4128-436X","observed_orcids":["https://orcid.org/0009-0000-4128-436X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K. Watanabe","raw_affiliation_strings":["HUSM, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HUSM, Shizuoka, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Y. Hosoi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y. Hosoi","raw_affiliation_strings":["HUSM, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HUSM, Shizuoka, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091317308","display_name":"Hiroaki Miyajima","orcid":"https://orcid.org/0000-0002-0399-9740","observed_orcids":["https://orcid.org/0000-0002-0399-9740"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Miyajima","raw_affiliation_strings":["HUSM, Shizuoka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"HUSM, Shizuoka, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081843080","display_name":"Shinichiro Hayashi","orcid":"https://orcid.org/0000-0001-5553-7698","observed_orcids":["https://orcid.org/0000-0001-5553-7698","https://orcid.org/0000-0001-9767-7402"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Hayashi","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024693827","display_name":"Yukiko Inoue","orcid":"https://orcid.org/0000-0002-4105-9127","observed_orcids":["https://orcid.org/0000-0002-4105-9127","https://orcid.org/0000-0001-7155-2150"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Y. Inoue","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032709542","display_name":"Takayoshi Inoue","orcid":"https://orcid.org/0000-0001-7155-2150","observed_orcids":["https://orcid.org/0000-0001-7155-2150"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Inoue","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030937450","display_name":"S. Noguchi","orcid":"https://orcid.org/0000-0001-6165-3716","observed_orcids":["https://orcid.org/0000-0001-6165-3716"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"S. Noguchi","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071478982","display_name":"Ichizo Nishino","orcid":"https://orcid.org/0000-0001-9452-112X","observed_orcids":["https://orcid.org/0000-0001-9452-112X"]},"institutions":[{"id":"https://openalex.org/I4210103779","display_name":"National Center of Neurology and Psychiatry","ror":"https://ror.org/0254bmq54","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210103779"]},{"id":"https://openalex.org/I4405287400","display_name":"National Institute of Neuroscience","ror":"https://ror.org/052fnx536","country_code":"JP","type":"government","lineage":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"I. Nishino","raw_affiliation_strings":["National Institute of Neuroscience, NCNP, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"National Institute of Neuroscience, NCNP, Tokyo, Japan","institution_ids":["https://openalex.org/I4210103779","https://openalex.org/I4405287400"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3200,"currency":"USD","value_usd":3200},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.08812011,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"30","issue":null,"first_page":"S46","last_page":"S46"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8622999787330627,"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"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8622999787330627,"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.025100000202655792,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.01850000023841858,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/dnajb6","display_name":"DNAJB6","score":0.6859999895095825},{"id":"https://openalex.org/keywords/myofibrillar-myopathy","display_name":"myofibrillar myopathy","score":0.8740000128746033},{"id":"https://openalex.org/keywords/adult-onset-myopathy","display_name":"adult-onset myopathy","score":0.7689999938011169},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8389999866485596},{"id":"https://openalex.org/keywords/knock-in-mice","display_name":"knock-in mice","score":0.5870000123977661},{"id":"https://openalex.org/keywords/rimmed-vacuoles","display_name":"rimmed vacuoles","score":0.8320000171661377},{"id":"https://openalex.org/keywords/myofibrillar-disorganization","display_name":"myofibrillar disorganization","score":0.843999981880188},{"id":"https://openalex.org/keywords/familial-myopathy","display_name":"familial myopathy","score":0.4410000145435333},{"id":"https://openalex.org/keywords/striated-muscle","display_name":"striated muscle","score":0.5389999747276306}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8642611503601074},{"id":"https://openalex.org/C2779072444","wikidata":"https://www.wikidata.org/wiki/Q425146","display_name":"Desmin","level":4,"score":0.6575062274932861},{"id":"https://openalex.org/C50929876","wikidata":"https://www.wikidata.org/wiki/Q164280","display_name":"Subfamily","level":3,"score":0.6493836641311646},{"id":"https://openalex.org/C7301908","wikidata":"https://www.wikidata.org/wiki/Q318623","display_name":"Myofibril","level":2,"score":0.6128227710723877},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.6038987636566162},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.54848712682724},{"id":"https://openalex.org/C2776418732","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Muscle weakness","level":2,"score":0.5371438264846802},{"id":"https://openalex.org/C2909745897","wikidata":"https://www.wikidata.org/wiki/Q270421","display_name":"Proximal muscle weakness","level":4,"score":0.5325374007225037},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5213212370872498},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5039114356040955},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.49498480558395386},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.4643201231956482},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.46353745460510254},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.42580902576446533},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.37418797612190247},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.35417476296424866},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3355402946472168},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3112736940383911},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.26091015338897705},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.13177141547203064},{"id":"https://openalex.org/C204232928","wikidata":"https://www.wikidata.org/wiki/Q899285","display_name":"Immunohistochemistry","level":2,"score":0.0},{"id":"https://openalex.org/C147447768","wikidata":"https://www.wikidata.org/wiki/Q411624","display_name":"Vimentin","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.nmd.2020.08.004","doi":"https://doi.org/10.1016/j.nmd.2020.08.004","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2020.08.004","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3199524435","https://openalex.org/W4312095755","https://openalex.org/W1980727917","https://openalex.org/W2078643434","https://openalex.org/W2526808386","https://openalex.org/W1993660984","https://openalex.org/W2516821116","https://openalex.org/W2790330483","https://openalex.org/W4389446581","https://openalex.org/W3127620087"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2020-10-08T00:00:00"}