{"id":"https://openalex.org/W2167922607","doi":"https://doi.org/10.1093/hmg/3.9.1657","title":"Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping","display_name":"Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping","publication_year":1994,"publication_date":"1994-01-01","ids":{"openalex":"https://openalex.org/W2167922607","doi":"https://doi.org/10.1093/hmg/3.9.1657","mag":"2167922607","pmid":"https://pubmed.ncbi.nlm.nih.gov/7833925"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/3.9.1657","doi":"https://doi.org/10.1093/hmg/3.9.1657","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/3.9.1657","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","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/A5007500674","display_name":"Dominique Hillaire","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Dominique Hillaire","raw_affiliation_strings":["G\u00e9n\u00e9thon, Evry, France","G\u00e9n\u00e9thon, 1 rue de I'Internationale91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, Evry, France","institution_ids":["https://openalex.org/I4210127167"]},{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003589357","display_name":"Anne Helbling-Leclerc","orcid":"https://orcid.org/0000-0002-2686-2798","observed_orcids":["https://orcid.org/0000-0002-2686-2798"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Anne Leclerc","raw_affiliation_strings":["INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113695114","display_name":"Sabine Faur\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sabine Faur\u00e9","raw_affiliation_strings":["G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086201681","display_name":"Haluk Topalo\u011flu","orcid":"https://orcid.org/0000-0002-3545-3830","observed_orcids":["https://orcid.org/0000-0002-3545-3830"]},"institutions":[{"id":"https://openalex.org/I4210115551","display_name":"Hacettepe University Hospital","ror":"https://ror.org/024q5j973","country_code":"TR","type":"healthcare","lineage":["https://openalex.org/I4210115551"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Haluk Topaloglu","raw_affiliation_strings":["Department of Paediatric Neurology, Hacettepe Children's Hospital 06100 Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology, Hacettepe Children's Hospital 06100 Ankara, Turkey","institution_ids":["https://openalex.org/I4210115551"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098044231","display_name":"Nuchanard Chiannllkulcha\u00ef","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nuchanard Chiannllkulcha\u00ef","raw_affiliation_strings":["G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082003502","display_name":"Pascale Guicheney","orcid":"https://orcid.org/0000-0002-7663-2050","observed_orcids":["https://orcid.org/0000-0002-7663-2050"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pascale Guicheney","raw_affiliation_strings":["INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074592331","display_name":"Laurent Grinas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Laurent Grinas","raw_affiliation_strings":["G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098044232","display_name":"Patricia Legos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Patricia Legos","raw_affiliation_strings":["G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108497631","display_name":"Joanne Philpot","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801748203","display_name":"Hammersmith Hospital","ror":"https://ror.org/05jg8yp15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I153355300","https://openalex.org/I2801748203"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Joanne Philpot","raw_affiliation_strings":["Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital London W12 ONN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital London W12 ONN, UK","institution_ids":["https://openalex.org/I2801748203"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019220585","display_name":"Teresinha Evangelista","orcid":"https://orcid.org/0000-0002-1329-9131","observed_orcids":["https://orcid.org/0000-0002-1329-9131"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Teresinha Evangelista","raw_affiliation_strings":["INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109086826","display_name":"M. C. Routon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163467","display_name":"H\u00f4pital Saint-Vincent-de-Paul","ror":"https://ror.org/03vw2zn10","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210163467"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie-Claude Routon","raw_affiliation_strings":["Service de Neurop\u00e9diatrie, H\u016fpital Saint-Vincent-de-Paul 75014 Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurop\u00e9diatrie, H\u016fpital Saint-Vincent-de-Paul 75014 Paris","institution_ids":["https://openalex.org/I4210163467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004592445","display_name":"Mich\u00e8le Mayer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210163467","display_name":"H\u00f4pital Saint-Vincent-de-Paul","ror":"https://ror.org/03vw2zn10","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210163467"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mich\u00e8le Mayer","raw_affiliation_strings":["Service de Neurop\u00e9diatrie, H\u016fpital Saint-Vincent-de-Paul 75014 Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurop\u00e9diatrie, H\u016fpital Saint-Vincent-de-Paul 75014 Paris","institution_ids":["https://openalex.org/I4210163467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111988958","display_name":"Jean-Francols Pellissier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Francols Pellissier","raw_affiliation_strings":["Service d'Anatomie Pathologique et de Neuropathologie, H\u016fpital d'Adultes de la Timone 13005 Marseille"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Anatomie Pathologique et de Neuropathologie, H\u016fpital d'Adultes de la Timone 13005 Marseille","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007609198","display_name":"Brigitte Estournet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210134648","display_name":"H\u00f4pital Raymond-Poincar\u00e9","ror":"https://ror.org/03pef0w96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Brigitte Estournet","raw_affiliation_strings":["P\u00e9diatrie- R\u00e9animation Infantile, H\u016fpital Raymond Poincar\u00e9 Garches, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P\u00e9diatrie- R\u00e9animation Infantile, H\u016fpital Raymond Poincar\u00e9 Garches, France","institution_ids":["https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5098595468","display_name":"Annie Barols","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210134648","display_name":"H\u00f4pital Raymond-Poincar\u00e9","ror":"https://ror.org/03pef0w96","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Annie Barols","raw_affiliation_strings":["P\u00e9diatrie- R\u00e9animation Infantile, H\u016fpital Raymond Poincar\u00e9 Garches, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"P\u00e9diatrie- R\u00e9animation Infantile, H\u016fpital Raymond Poincar\u00e9 Garches, France","institution_ids":["https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109998085","display_name":"Fay\u00e7al Hentati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158266","display_name":"National Institute of Neurology Mongi-Ben Hamida","ror":"https://ror.org/02mqbx112","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210158266"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Fay\u00e7al Hentati","raw_affiliation_strings":["Institut National de Neurologie, La Rabta Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de Neurologie, La Rabta Tunis, Tunisia","institution_ids":["https://openalex.org/I4210158266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026007324","display_name":"N Feingold","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210128005","display_name":"Ch\u00e2teau de Longchamp","ror":"https://ror.org/02txsgf39","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210118410","https://openalex.org/I4210128005"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicole Feingold","raw_affiliation_strings":["INSERM U155, Ch\u00e5teau de Longchamp Bois de Boulogne, 75016 Paris"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U155, Ch\u00e5teau de Longchamp Bois de Boulogne, 75016 Paris","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210128005"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036868448","display_name":"Jacques Samuel Beckmann","orcid":"https://orcid.org/0000-0002-9741-1900","observed_orcids":["https://orcid.org/0000-0002-9741-1900"]},"institutions":[{"id":"https://openalex.org/I2802309713","display_name":"Fondation Jean Dausset-CEPH","ror":"https://ror.org/01rje3r53","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I2802309713"]},{"id":"https://openalex.org/I4210127167","display_name":"Genethon (France)","ror":"https://ror.org/03fj96t64","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210127167"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jacqui S.Beckmann","raw_affiliation_strings":["CEPH, 27 rue Juliette Dodu 75010 Paris, France","G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CEPH, 27 rue Juliette Dodu 75010 Paris, France","institution_ids":["https://openalex.org/I2802309713"]},{"raw_affiliation_string":"G\u00e9n\u00e9thon, 1 rue de I'Internationale 91002 Evry","institution_ids":["https://openalex.org/I4210127167"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029621491","display_name":"Victor Dubowitz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801748203","display_name":"Hammersmith Hospital","ror":"https://ror.org/05jg8yp15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I153355300","https://openalex.org/I2801748203"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Victor Dubowitz","raw_affiliation_strings":["Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital London W12 ONN, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital London W12 ONN, UK","institution_ids":["https://openalex.org/I2801748203"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103386681","display_name":"Fernando M. S. Tom\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fernando M.S.Tom\u00e9","raw_affiliation_strings":["INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5108083195","display_name":"Michel Fardeau","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Michel Fardeau","raw_affiliation_strings":["INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U153 and CNRS ERS 064, 17 rue du Fer-\u00e0-Moulin 75005 Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5108083195"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":7.3251,"has_fulltext":false,"cited_by_count":194,"citation_normalized_percentile":{"value":0.98319859,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"3","issue":"9","first_page":"1657","last_page":"1661"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9955999851226807,"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":0.9955999851226807,"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":0.0010999999940395355,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/congenital-muscular-dystrophy","display_name":"congenital muscular dystrophy","score":0.9200000166893005},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.8159999847412109},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.5270000100135803},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6159999966621399},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7570000290870667},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.7110000252723694}],"concepts":[{"id":"https://openalex.org/C2779768179","wikidata":"https://www.wikidata.org/wiki/Q1321884","display_name":"Congenital muscular dystrophy","level":3,"score":0.8348298072814941},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6466541290283203},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.6271222233772278},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.6112854480743408},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5391592979431152},{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.5169005393981934},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5153495669364929},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.507014274597168},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.4593117833137512},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4127733111381531},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.1864217221736908},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.0}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002899","descriptor_name":"Chromosomes, Human, Pair 9","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","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":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007797","descriptor_name":"Laminin","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D007797","descriptor_name":"Laminin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":true},{"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":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/hmg/3.9.1657","doi":"https://doi.org/10.1093/hmg/3.9.1657","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/3.9.1657","pdf_url":null,"source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmid:7833925","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7833925","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":"Human molecular genetics","raw_type":"Journal Article"},{"id":"pmh:oai:iris.unil.ch:iris/200557","doi":null,"is_oa":false,"landing_page_url":"https://iris.unil.ch/handle/iris/200557","pdf_url":null,"source":{"id":"https://openalex.org/S7407055444","display_name":"IRIS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"},{"id":"pmh:oai:open-archive.highwire.org:hmg:3/9/1657","doi":null,"is_oa":false,"landing_page_url":"http://hmg.oxfordjournals.org/cgi/content/short/3/9/1657","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"pmh:oai:serval.unil.ch:BIB_7EDDDDECF7D9","doi":null,"is_oa":false,"landing_page_url":"https://serval.unil.ch/notice/serval:BIB_7EDDDDECF7D9","pdf_url":null,"source":{"id":"https://openalex.org/S4306401797","display_name":"SERVAL (Universit\u00e9 de Lausanne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210093590","host_organization_name":"Swiss School of Archaeology in Greece","host_organization_lineage":["https://openalex.org/I4210093590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Human Molecular Genetics, vol. 3, no. 9, pp. 1657-1661","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W120968873","https://openalex.org/W1549470101","https://openalex.org/W1564301159","https://openalex.org/W1969570221","https://openalex.org/W1985051825","https://openalex.org/W1986698808","https://openalex.org/W1988276998","https://openalex.org/W1995772101","https://openalex.org/W2010143206","https://openalex.org/W2018883677","https://openalex.org/W2040413836","https://openalex.org/W2046578109","https://openalex.org/W2046580700","https://openalex.org/W2061941091","https://openalex.org/W2062168013","https://openalex.org/W2089221493","https://openalex.org/W2093224967","https://openalex.org/W2109073906","https://openalex.org/W2119622097","https://openalex.org/W2168058510","https://openalex.org/W2171833152","https://openalex.org/W2472535367"],"related_works":["https://openalex.org/W2045389776","https://openalex.org/W1964893455","https://openalex.org/W2407969325","https://openalex.org/W2063113059","https://openalex.org/W1964528068","https://openalex.org/W2015952614","https://openalex.org/W2062088552","https://openalex.org/W2016768483","https://openalex.org/W2400798662","https://openalex.org/W2158686769"],"abstract_inverted_index":{"Congenital":[0],"muscular":[1],"dystrophies":[2],"(CMD)":[3],"are":[4,12],"autosomal":[5],"recessive,":[6],"heterogeneous":[7],"disorders.":[8],"The":[9],"commonest":[10],"forms":[11],"the":[13,41,84,87],"Fukuyama":[14],"CMD":[15,48,73,96],"(FCMD),":[16],"associated":[17],"with":[18,29],"mental":[19],"retardation":[20],"and":[21,25,56],"structural":[22],"brain":[23],"anomalies,":[24],"classical":[26],"(occidental)":[27],"CMD,":[28],"pure":[30],"muscle":[31],"expression.":[32],"FCMD":[33],"has":[34],"been":[35],"localized":[36],"to":[37,102],"chromosome":[38,81,104],"9q31-q33.":[39,107],"Following":[40],"discovery":[42],"of":[43,80,86],"merosin":[44],"deficiency":[45],"in":[46,68,75,83],"some":[47],"cases,":[49],"we":[50],"have":[51],"localized,":[52],"by":[53],"homozygosity":[54],"mapping":[55],"linkage":[57,101],"analysis":[58],"(Zmax":[59],"=":[60,63],"5.6;":[61],"theta":[62],"0.0":[64],"for":[65],"marker":[66],"AFM127xb2)":[67],"four":[69],"merosin-negative":[70],"families":[71,97],"a":[72,76],"gene":[74],"16":[77],"cM":[78],"region":[79,85],"6q2":[82,105],"laminin":[88],"M":[89],"chain":[90],"gene.":[91],"In":[92],"three":[93],"consanguineous,":[94],"merosin-positive,":[95],"there":[98],"was":[99],"no":[100],"either":[103],"or":[106]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}