{"id":"https://openalex.org/W1968024422","doi":"https://doi.org/10.1016/0753-3322(94)90052-3","title":"A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients","display_name":"A molecular survey of Israeli Duchenne and Becker muscular dystrophy patients","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W1968024422","doi":"https://doi.org/10.1016/0753-3322(94)90052-3","mag":"1968024422","pmid":"https://pubmed.ncbi.nlm.nih.gov/7858172"},"language":"en","primary_location":{"id":"doi:10.1016/0753-3322(94)90052-3","doi":"https://doi.org/10.1016/0753-3322(94)90052-3","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0753-3322(94)90052-3","pdf_url":null,"source":{"id":"https://openalex.org/S15111687","display_name":"Biomedicine & Pharmacotherapy","issn_l":"0753-3322","issn":["0753-3322","1950-6007"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-2","ki-jl-1","medline","poland-100","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":"Biomedicine & Pharmacotherapy","raw_type":"journal-article"},"volume":null,"type":"article","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/A5046205623","display_name":"Cyril Legum","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799807261","display_name":"Tel Aviv Sourasky Medical Center","ror":"https://ror.org/04nd58p63","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799807261"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"C. Legum","raw_affiliation_strings":["Genetic Institute, Elias-Sourasky Tel Aviv Medical Center, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Institute, Elias-Sourasky Tel Aviv Medical Center, Israel","institution_ids":["https://openalex.org/I2799807261"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065255697","display_name":"Ruth Shomrat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799807261","display_name":"Tel Aviv Sourasky Medical Center","ror":"https://ror.org/04nd58p63","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799807261"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"R. Shomrat","raw_affiliation_strings":["The Genetic Institute. Elias-Sourasky Tel Aviv Medical Center, 6 Weizman St, Tel Aviv, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Genetic Institute. Elias-Sourasky Tel Aviv Medical Center, 6 Weizman St, Tel Aviv, USA","institution_ids":["https://openalex.org/I2799807261"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111966011","display_name":"Michael J. Glassner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799807261","display_name":"Tel Aviv Sourasky Medical Center","ror":"https://ror.org/04nd58p63","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799807261"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"M. Glassner","raw_affiliation_strings":["The Genetic Institute. Elias-Sourasky Tel Aviv Medical Center, 6 Weizman St, Tel Aviv, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Genetic Institute. Elias-Sourasky Tel Aviv Medical Center, 6 Weizman St, Tel Aviv, USA","institution_ids":["https://openalex.org/I2799807261"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5086398854","display_name":"Yosef Shiloh","orcid":"https://orcid.org/0000-0002-1538-6060","observed_orcids":["https://orcid.org/0000-0002-1538-6060"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Y. Shiloh","raw_affiliation_strings":["Department of Human Genetics, Sackler School of Medicine. Tel Aviv University, Ramat Aviv 68878, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Sackler School of Medicine. Tel Aviv University, Ramat Aviv 68878, Israel","institution_ids":["https://openalex.org/I16391192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3610,"currency":"USD","value_usd":3610},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.0613563,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":97},"biblio":{"volume":"48","issue":"8-9","first_page":"359","last_page":"364"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9951000213623047,"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":0.9951000213623047,"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":0.0019000000320374966,"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":0.0003000000142492354,"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/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/becker-muscular-dystrophy","display_name":"Becker muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/dmd-gene","display_name":"dystrophin gene","score":0.9729999899864197},{"id":"https://openalex.org/keywords/dystrophin-mutations","display_name":"dystrophin gene mutations","score":0.8830000162124634},{"id":"https://openalex.org/keywords/x-linked-recessive-inheritance","display_name":"X-linked recessive inheritance","score":0.8980000019073486},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.5289999842643738},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.5479999780654907},{"id":"https://openalex.org/keywords/creatine-kinase","display_name":"creatine kinase","score":0.7739999890327454},{"id":"https://openalex.org/keywords/diagnostic-protocol","display_name":"diagnostic protocol","score":0.5479999780654907},{"id":"https://openalex.org/keywords/israeli-patients","display_name":"Israeli patients","score":0.6470000147819519}],"concepts":[{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.798040509223938},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.7477125525474548},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6706053018569946},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.6327188611030579},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5546756386756897},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.5486649870872498},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5453105568885803},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.508913516998291},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.4780498147010803},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.414423406124115},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3443189859390259},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3387727737426758},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3312511444091797},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3162933886051178},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.27791351079940796}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D007557","descriptor_name":"Israel","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018076","descriptor_name":"DNA, Complementary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/0753-3322(94)90052-3","doi":"https://doi.org/10.1016/0753-3322(94)90052-3","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0753-3322(94)90052-3","pdf_url":null,"source":{"id":"https://openalex.org/S15111687","display_name":"Biomedicine & Pharmacotherapy","issn_l":"0753-3322","issn":["0753-3322","1950-6007"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-2","ki-jl-1","medline","poland-100","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":"Biomedicine & Pharmacotherapy","raw_type":"journal-article"},{"id":"pmid:7858172","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7858172","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":"Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie","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":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":37,"referenced_works":["https://openalex.org/W10680619","https://openalex.org/W89647785","https://openalex.org/W157990352","https://openalex.org/W191390683","https://openalex.org/W314960756","https://openalex.org/W1909665571","https://openalex.org/W1969854962","https://openalex.org/W1975299395","https://openalex.org/W1995550032","https://openalex.org/W1997140189","https://openalex.org/W2003730995","https://openalex.org/W2016811958","https://openalex.org/W2018600945","https://openalex.org/W2019333139","https://openalex.org/W2023307930","https://openalex.org/W2026463253","https://openalex.org/W2030808550","https://openalex.org/W2038685361","https://openalex.org/W2043184793","https://openalex.org/W2043366161","https://openalex.org/W2044530341","https://openalex.org/W2055254549","https://openalex.org/W2055784655","https://openalex.org/W2060063694","https://openalex.org/W2066180106","https://openalex.org/W2081695621","https://openalex.org/W2084507708","https://openalex.org/W2088637251","https://openalex.org/W2090199012","https://openalex.org/W2100567129","https://openalex.org/W2125150711","https://openalex.org/W2147030034","https://openalex.org/W2165562276","https://openalex.org/W2167021585","https://openalex.org/W2323708852","https://openalex.org/W2326111613","https://openalex.org/W6678356341"],"related_works":["https://openalex.org/W119004867","https://openalex.org/W2510111553","https://openalex.org/W3206862608","https://openalex.org/W4210419775","https://openalex.org/W2495263579","https://openalex.org/W2029824607","https://openalex.org/W2805063180","https://openalex.org/W1981109806","https://openalex.org/W4248925926","https://openalex.org/W7067720971"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}