{"id":"https://openalex.org/W4399589591","doi":"https://doi.org/10.1016/j.gene.2024.148680","title":"Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients","display_name":"Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients","publication_year":2024,"publication_date":"2024-06-12","ids":{"openalex":"https://openalex.org/W4399589591","doi":"https://doi.org/10.1016/j.gene.2024.148680","pmid":"https://pubmed.ncbi.nlm.nih.gov/38876406"},"language":"en","primary_location":{"id":"doi:10.1016/j.gene.2024.148680","doi":"https://doi.org/10.1016/j.gene.2024.148680","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.gene.2024.148680","pdf_url":null,"source":{"id":"https://openalex.org/S75702506","display_name":"Gene","issn_l":"0378-1119","issn":["0378-1119","1879-0038"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Gene","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W4399589591"],"child_works_count":0,"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/A5026775211","display_name":"Maria V. Bulakh","orcid":"https://orcid.org/0000-0002-8674-7230","observed_orcids":["https://orcid.org/0000-0002-8674-7230"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Maria Bulakh","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: mariya.bulakh@gmail.com","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-8674-7230","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: mariya.bulakh@gmail.com","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110608535","display_name":"Daria Polyakova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Daria Polyakova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: apol@dnalab.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: apol@dnalab.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054646580","display_name":"\u0414\u0430\u0434\u0430\u043b\u0438 \u0415\u043b\u0435\u043d\u0430 \u041b\u0435\u043e\u043d\u0438\u0434\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0001-5602-2805","observed_orcids":["https://orcid.org/0000-0001-5602-2805"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Elena Dadali","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: genclinic@yandex.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: genclinic@yandex.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Galina Rudenskaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Galina Rudenskaya","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: rudenskaya@med-gen.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: rudenskaya@med-gen.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048634617","display_name":"\u0428\u0430\u0440\u043a\u043e\u0432\u0430 \u0418\u043d\u043d\u0430 \u0412\u0430\u043b\u0435\u043d\u0442\u0438\u043d\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0002-5819-4835","observed_orcids":["https://orcid.org/0000-0002-5819-4835"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Inna Sharkova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: sharkova-inna@rambler.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0002-5819-4835","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: sharkova-inna@rambler.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057812292","display_name":"\u0422. \u0412. \u041c\u0430\u0440\u043a\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-2672-6294","observed_orcids":["https://orcid.org/0000-0002-2672-6294"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Tatiana Markova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: markova@med-gen.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: markova@med-gen.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036801177","display_name":"Aysylu F. Murtazina","orcid":"https://orcid.org/0000-0001-7023-7378","observed_orcids":["https://orcid.org/0000-0001-7023-7378"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Aysylu Murtazina","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: aysylumurtazina@gmail.com","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":"https://orcid.org/0000-0001-7023-7378","affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: aysylumurtazina@gmail.com","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072803670","display_name":"Nina Demina","orcid":"https://orcid.org/0000-0003-0724-9004","observed_orcids":["https://orcid.org/0000-0003-0724-9004"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Nina Demina","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ndemina47@mail.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ndemina47@mail.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Sergei Kurbatov","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800247874","display_name":"Voronezh State Medical Academy named after N.N. Burdenko","ror":"https://ror.org/05kce7016","country_code":"RU","type":"education","lineage":["https://openalex.org/I2800247874"]},{"id":"https://openalex.org/I4210118375","display_name":"Saratov State Medical University","ror":"https://ror.org/02jmkw435","country_code":"RU","type":"education","lineage":["https://openalex.org/I4210118375"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Sergei Kurbatov","raw_affiliation_strings":["Research Institute of Experimental Biology and Medicine, Voronezh State Medical University N.N. Burdenko, Voronezh, Russia; Saratov State Medical University, Saratov, Russia. Electronic address: Kurbatov80@list.ru","Research Institute of Experimental Biology and Medicine, Voronezh State Medical University N.N. Burdenko, Voronezh, Russia","Saratov State Medical University, Saratov, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Institute of Experimental Biology and Medicine, Voronezh State Medical University N.N. Burdenko, Voronezh, Russia; Saratov State Medical University, Saratov, Russia. Electronic address: Kurbatov80@list.ru","institution_ids":["https://openalex.org/I2800247874","https://openalex.org/I4210118375"]},{"raw_affiliation_string":"Research Institute of Experimental Biology and Medicine, Voronezh State Medical University N.N. Burdenko, Voronezh, Russia","institution_ids":["https://openalex.org/I2800247874"]},{"raw_affiliation_string":"Saratov State Medical University, Saratov, Russia","institution_ids":["https://openalex.org/I4210118375"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103197841","display_name":"Natalia Nikitina","orcid":"https://orcid.org/0000-0002-2811-4718","observed_orcids":["https://orcid.org/0000-0002-2811-4718"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Natalia Nikitina","raw_affiliation_strings":["State Healthcare Institution of Sverdlovsk Region \"Clinical Diagnostic Center \"Mother's and Child Health Protection\", Yekaterinburg, Russia. Electronic address: nikitinanv@list.ru","State Healthcare Institution of Sverdlovsk Region \"Clinical Diagnostic Center \"Mother's and Child Health Protection\", Yekaterinburg, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Healthcare Institution of Sverdlovsk Region \"Clinical Diagnostic Center \"Mother's and Child Health Protection\", Yekaterinburg, Russia. Electronic address: nikitinanv@list.ru","institution_ids":[]},{"raw_affiliation_string":"State Healthcare Institution of Sverdlovsk Region \"Clinical Diagnostic Center \"Mother's and Child Health Protection\", Yekaterinburg, Russia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058351872","display_name":"Vasilisa Udalova","orcid":"https://orcid.org/0000-0003-3476-2225","observed_orcids":["https://orcid.org/0000-0003-3476-2225"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Vasilisa Udalova","raw_affiliation_strings":["Genomed LLC, Moscow, Russia. Electronic address: udalova@genomed.ru","Genomed LLC, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomed LLC, Moscow, Russia. Electronic address: udalova@genomed.ru","institution_ids":[]},{"raw_affiliation_string":"Genomed LLC, Moscow, Russia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113951396","display_name":"Aleksander V. Polyakov","orcid":"https://orcid.org/0000-0002-0105-1833","observed_orcids":["https://orcid.org/0000-0002-0105-1833"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Aleksander Polyakov","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: polyakov@med-gen.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: polyakov@med-gen.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086531842","display_name":"\u041e. \u041f. \u0420\u044b\u0436\u043a\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0003-1285-9093","observed_orcids":["https://orcid.org/0000-0003-1285-9093"]},"institutions":[{"id":"https://openalex.org/I4210126689","display_name":"Research Centre for Medical Genetics","ror":"https://ror.org/03dhz7247","country_code":"RU","type":"healthcare","lineage":["https://openalex.org/I1313323035","https://openalex.org/I4210110862","https://openalex.org/I4210126689"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Oxana Ryzhkova","raw_affiliation_strings":["Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ryzhkova@dnalab.ru","Research Centre for Medical Genetics, Moscow, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia. Electronic address: ryzhkova@dnalab.ru","institution_ids":["https://openalex.org/I4210126689"]},{"raw_affiliation_string":"Research Centre for Medical Genetics, Moscow, Russia","institution_ids":["https://openalex.org/I4210126689"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5026775211"],"corresponding_institution_ids":["https://openalex.org/I4210126689"],"apc_list":{"value":3060,"currency":"USD","value_usd":3060},"apc_paid":null,"fwci":0.1022,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.24961789,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"927","issue":null,"first_page":"148680","last_page":"148680"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9878000020980835,"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":0.9878000020980835,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.006200000178068876,"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"}},{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.003599999938160181,"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/sarcoglycanopathies","display_name":"sarcoglycanopathies","score":0.9980000257492065},{"id":"https://openalex.org/keywords/limb-girdle-muscular-dystrophy","display_name":"limb-girdle muscular dystrophy","score":0.9470000267028809},{"id":"https://openalex.org/keywords/sgca","display_name":"SGCA","score":0.7269999980926514},{"id":"https://openalex.org/keywords/sgcd","display_name":"SGCD","score":0.9990000128746033},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.5550000071525574},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.8500000238418579},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6150000095367432},{"id":"https://openalex.org/keywords/incidence","display_name":"incidence","score":0.44200000166893005},{"id":"https://openalex.org/keywords/russian-patients","display_name":"Russian patients","score":0.8149999976158142},{"id":"https://openalex.org/keywords/russia","display_name":"Russia","score":0.4869999885559082}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7187918424606323},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6866456866264343},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5317667126655579},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5270607471466064},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.5041803121566772},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.4220353662967682},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012426","descriptor_name":"Russia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D049031","descriptor_name":"Sarcoglycans","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D049288","descriptor_name":"Muscular Dystrophies, Limb-Girdle","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D049288","descriptor_name":"Muscular Dystrophies, Limb-Girdle","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058088","descriptor_name":"Sarcoglycanopathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D058088","descriptor_name":"Sarcoglycanopathies","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.gene.2024.148680","doi":"https://doi.org/10.1016/j.gene.2024.148680","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.gene.2024.148680","pdf_url":null,"source":{"id":"https://openalex.org/S75702506","display_name":"Gene","issn_l":"0378-1119","issn":["0378-1119","1879-0038"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Gene","raw_type":"journal-article"},{"id":"pmid:38876406","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38876406","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":"Gene","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":41,"referenced_works":["https://openalex.org/W232560049","https://openalex.org/W1990956920","https://openalex.org/W2016369795","https://openalex.org/W2022417925","https://openalex.org/W2028279185","https://openalex.org/W2031949368","https://openalex.org/W2042814960","https://openalex.org/W2044406209","https://openalex.org/W2047149951","https://openalex.org/W2061808607","https://openalex.org/W2073246789","https://openalex.org/W2073783399","https://openalex.org/W2077343875","https://openalex.org/W2084703547","https://openalex.org/W2088152227","https://openalex.org/W2090566743","https://openalex.org/W2104141100","https://openalex.org/W2125683839","https://openalex.org/W2128699738","https://openalex.org/W2142851309","https://openalex.org/W2143464026","https://openalex.org/W2161779632","https://openalex.org/W2167624076","https://openalex.org/W2317359858","https://openalex.org/W2334924661","https://openalex.org/W2340880118","https://openalex.org/W2605609575","https://openalex.org/W2730192251","https://openalex.org/W2920552084","https://openalex.org/W2935013459","https://openalex.org/W2944742215","https://openalex.org/W3034462793","https://openalex.org/W3036086107","https://openalex.org/W3081947125","https://openalex.org/W3083008290","https://openalex.org/W3094908736","https://openalex.org/W3186565749","https://openalex.org/W3201395747","https://openalex.org/W3204409384","https://openalex.org/W4206742623","https://openalex.org/W4223529840"],"related_works":["https://openalex.org/W4387306454","https://openalex.org/W4406052185","https://openalex.org/W4205423514","https://openalex.org/W2920552084","https://openalex.org/W2021290048","https://openalex.org/W4223529840","https://openalex.org/W3206047760","https://openalex.org/W3081947125","https://openalex.org/W3090295588","https://openalex.org/W2730192251"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-06-13T00:00:00"}