{"id":"https://openalex.org/W2139644337","doi":"https://doi.org/10.1093/hmg/dds514","title":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","display_name":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","publication_year":2012,"publication_date":"2012-12-11","ids":{"openalex":"https://openalex.org/W2139644337","doi":"https://doi.org/10.1093/hmg/dds514","mag":"2139644337","pmid":"https://pubmed.ncbi.nlm.nih.gov/23236030"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/dds514","doi":"https://doi.org/10.1093/hmg/dds514","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/dds514","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","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/A5015600445","display_name":"Klaus D. Dieterich","orcid":"https://orcid.org/0000-0002-4362-4062","observed_orcids":["https://orcid.org/0000-0002-4362-4062"]},"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/I4210091189","display_name":"H\u00f4pital Couple Enfant","ror":"https://ror.org/00dxw4v18","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055","https://openalex.org/I4210091189"]},{"id":"https://openalex.org/I4210151160","display_name":"Grenoble Institute of Neurosciences","ror":"https://ror.org/04as3rk94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I2738703131","https://openalex.org/I4210151160","https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Klaus Dieterich","raw_affiliation_strings":["Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France","D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation,","Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre94276, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]},{"raw_affiliation_string":"Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I4210091189"]},{"raw_affiliation_string":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation,","institution_ids":[]},{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre94276, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109274693","display_name":"Susana Quijano-Roy","orcid":"https://orcid.org/0000-0002-8503-6111","observed_orcids":["https://orcid.org/0000-0002-8503-6111","https://orcid.org/0000-0003-2091-0688"]},"institutions":[{"id":"https://openalex.org/I195731000","display_name":"Universit\u00e9 de Versailles Saint-Quentin-en-Yvelines","ror":"https://ror.org/03mkjjy25","country_code":"FR","type":"education","lineage":["https://openalex.org/I195731000","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210120235","display_name":"H\u00f4pitaux Universitaires Paris-Ouest","ror":"https://ror.org/01v676463","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"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":"Susana Quijano-Roy","raw_affiliation_strings":["AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210097159","https://openalex.org/I4210120235","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070137231","display_name":"Nicole Monnier","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/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210151160","display_name":"Grenoble Institute of Neurosciences","ror":"https://ror.org/04as3rk94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I2738703131","https://openalex.org/I4210151160","https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicole Monnier","raw_affiliation_strings":["Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]},{"raw_affiliation_string":"Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jie Zhou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091189","display_name":"H\u00f4pital Couple Enfant","ror":"https://ror.org/00dxw4v18","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055","https://openalex.org/I4210091189"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jie Zhou","raw_affiliation_strings":["Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I4210091189"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025094834","display_name":"Julien Faur\u00e9","orcid":"https://orcid.org/0000-0002-3660-9809","observed_orcids":["https://orcid.org/0000-0002-3660-9809"]},"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/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210151160","display_name":"Grenoble Institute of Neurosciences","ror":"https://ror.org/04as3rk94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I2738703131","https://openalex.org/I4210151160","https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Julien Faur\u00e9","raw_affiliation_strings":["Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]},{"raw_affiliation_string":"Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003992270","display_name":"Daniela Avila\u2010Smirnow","orcid":"https://orcid.org/0000-0003-3962-6302","observed_orcids":["https://orcid.org/0000-0003-3962-6302"]},"institutions":[{"id":"https://openalex.org/I195731000","display_name":"Universit\u00e9 de Versailles Saint-Quentin-en-Yvelines","ror":"https://ror.org/03mkjjy25","country_code":"FR","type":"education","lineage":["https://openalex.org/I195731000","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210120235","display_name":"H\u00f4pitaux Universitaires Paris-Ouest","ror":"https://ror.org/01v676463","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"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":"Daniela Avila Smirnow","raw_affiliation_strings":["AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210097159","https://openalex.org/I4210120235","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109541733","display_name":"Robert\u2010Yves Carlier","orcid":"https://orcid.org/0000-0002-9417-0726","observed_orcids":["https://orcid.org/0000-0002-9417-0726","https://orcid.org/0000-0002-7530-301X"]},"institutions":[{"id":"https://openalex.org/I195731000","display_name":"Universit\u00e9 de Versailles Saint-Quentin-en-Yvelines","ror":"https://ror.org/03mkjjy25","country_code":"FR","type":"education","lineage":["https://openalex.org/I195731000","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210120235","display_name":"H\u00f4pitaux Universitaires Paris-Ouest","ror":"https://ror.org/01v676463","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"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":"Robert Carlier","raw_affiliation_strings":["AP-HP, Service d'Imagerie M\u00e9dicale, H\u00f4pital R. Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le neuro-locomoteur, GNMH; UVSQ, Versailles, France","AP-HP, Service d'Imagerie M\u00e9dicale, H\u00f4pital R. Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le neuro-locomoteur,GNMH","UVSQ, Versailles, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Service d'Imagerie M\u00e9dicale, H\u00f4pital R. Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le neuro-locomoteur, GNMH; UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210097159","https://openalex.org/I4210120235","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP, Service d'Imagerie M\u00e9dicale, H\u00f4pital R. Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le neuro-locomoteur,GNMH","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210120235","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108248136","display_name":"C\u00e9cile Laroche","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118469","display_name":"Centre Hospitalier Universitaire de Limoges","ror":"https://ror.org/01tc2d264","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210118469"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00e9cile Laroche","raw_affiliation_strings":["Service de P\u00e9diatrie, CHU Limoges, Limoges, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de P\u00e9diatrie, CHU Limoges, Limoges, France","institution_ids":["https://openalex.org/I4210118469"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045150629","display_name":"Pascale Marcorelles","orcid":"https://orcid.org/0000-0002-2230-5046","observed_orcids":["https://orcid.org/0000-0002-2230-5046"]},"institutions":[{"id":"https://openalex.org/I4210132604","display_name":"Centre Hospitalier R\u00e9gional Universitaire de Brest","ror":"https://ror.org/03evbwn87","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210105774","https://openalex.org/I4210132604","https://openalex.org/I4210161065"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pascale Marcorelles","raw_affiliation_strings":["Laboratoire d'Anatomo-Pathologie, CHU Brest, Brest, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire d'Anatomo-Pathologie, CHU Brest, Brest, France","institution_ids":["https://openalex.org/I4210132604"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081333136","display_name":"Sandra Mercier","orcid":"https://orcid.org/0000-0002-6627-8748","observed_orcids":["https://orcid.org/0000-0002-6627-8748"]},"institutions":[{"id":"https://openalex.org/I4210155724","display_name":"Centre Hospitalier Universitaire de Rennes","ror":"https://ror.org/05qec5a53","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210155724"]},{"id":"https://openalex.org/I4405258264","display_name":"Universit\u00e9 Rennes 1","ror":"https://ror.org/00crteh33","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258264","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sandra Mercier","raw_affiliation_strings":["Service de G\u00e9n\u00e9tique Clinique, CHU Rennes, Universit\u00e9 Rennes 1, UMR62920, Rennes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de G\u00e9n\u00e9tique Clinique, CHU Rennes, Universit\u00e9 Rennes 1, UMR62920, Rennes, France","institution_ids":["https://openalex.org/I4210155724","https://openalex.org/I4405258264","https://openalex.org/I56067802"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028804707","display_name":"Andr\u00e9 M\u00e9garban\u00e9","orcid":"https://orcid.org/0000-0003-0714-2469","observed_orcids":["https://orcid.org/0000-0003-0714-2469"]},"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/I184679254","display_name":"Saint Joseph University","ror":"https://ror.org/044fxjq88","country_code":"LB","type":"education","lineage":["https://openalex.org/I184679254"]}],"countries":["FR","LB"],"is_corresponding":false,"raw_author_name":"Andr\u00e9 M\u00e9garban\u00e9","raw_affiliation_strings":["Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associ\u00e9 INSERM UMR_S910, P\u00f4le Technologie Sant\u00e9, Universit\u00e9 Saint Joseph, Beyrut, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de G\u00e9n\u00e9tique M\u00e9dicale et Laboratoire Associ\u00e9 INSERM UMR_S910, P\u00f4le Technologie Sant\u00e9, Universit\u00e9 Saint Joseph, Beyrut, Lebanon","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I184679254"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078687855","display_name":"Sylvie Odent","orcid":"https://orcid.org/0000-0002-0635-5940","observed_orcids":["https://orcid.org/0000-0002-0635-5940"]},"institutions":[{"id":"https://openalex.org/I4210155724","display_name":"Centre Hospitalier Universitaire de Rennes","ror":"https://ror.org/05qec5a53","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210155724"]},{"id":"https://openalex.org/I4405258264","display_name":"Universit\u00e9 Rennes 1","ror":"https://ror.org/00crteh33","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258264","https://openalex.org/I56067802"]},{"id":"https://openalex.org/I56067802","display_name":"Universit\u00e9 de Rennes","ror":"https://ror.org/015m7wh34","country_code":"FR","type":"education","lineage":["https://openalex.org/I56067802"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylvie Odent","raw_affiliation_strings":["Service de G\u00e9n\u00e9tique Clinique, CHU Rennes, Universit\u00e9 Rennes 1, UMR62920, Rennes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de G\u00e9n\u00e9tique Clinique, CHU Rennes, Universit\u00e9 Rennes 1, UMR62920, Rennes, France","institution_ids":["https://openalex.org/I4210155724","https://openalex.org/I4405258264","https://openalex.org/I56067802"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027139411","display_name":"Norma Beatriz Romero","orcid":"https://orcid.org/0000-0001-7714-0069","observed_orcids":["https://orcid.org/0000-0001-7714-0069"]},"institutions":[{"id":"https://openalex.org/I4210113666","display_name":"Institut de Myologie","ror":"https://ror.org/0270xt841","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210100892","https://openalex.org/I4210113666"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Norma Romero","raw_affiliation_strings":["Service d'Anatomopathologie, Pavillon Riessler, Institut de Myologie, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Anatomopathologie, Pavillon Riessler, Institut de Myologie, Paris, France","institution_ids":["https://openalex.org/I4210113666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022197077","display_name":"Damien Sternberg","orcid":"https://orcid.org/0000-0001-7877-7395","observed_orcids":["https://orcid.org/0000-0001-7877-7395"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Damien Sternberg","raw_affiliation_strings":["Laboratoire de Cardiog\u00e9n\u00e9tique et myog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, GH Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Cardiog\u00e9n\u00e9tique et myog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, GH Piti\u00e9-Salp\u00eatri\u00e8re, AP-HP, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029033857","display_name":"Isabelle Marty","orcid":"https://orcid.org/0000-0003-3625-913X","observed_orcids":["https://orcid.org/0000-0003-3625-913X"]},"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/I4210151160","display_name":"Grenoble Institute of Neurosciences","ror":"https://ror.org/04as3rk94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I2738703131","https://openalex.org/I4210151160","https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Marty","raw_affiliation_strings":["Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007609198","display_name":"Brigitte Estournet","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I195731000","display_name":"Universit\u00e9 de Versailles Saint-Quentin-en-Yvelines","ror":"https://ror.org/03mkjjy25","country_code":"FR","type":"education","lineage":["https://openalex.org/I195731000","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210120235","display_name":"H\u00f4pitaux Universitaires Paris-Ouest","ror":"https://ror.org/01v676463","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"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":["AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH; CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210097159","https://openalex.org/I4210120235","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP, Service de P\u00e9diatrie, H\u00f4pital Raymond Poincar\u00e9, Garches, H\u00f4pitaux Universitaires Paris-Ile-de-France Ouest, P\u00f4le p\u00e9diatrique, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires GNMH","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"CIC-IT\u2014Facult\u00e9 de M\u00e9decine Paris-Ile-de-France Ouest, UVSQ, Versailles, France","institution_ids":["https://openalex.org/I195731000"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066923328","display_name":"Pierre\u2010Simon Jouk","orcid":"https://orcid.org/0000-0001-8301-320X","observed_orcids":["https://orcid.org/0000-0001-8301-320X"]},"institutions":[{"id":"https://openalex.org/I4210091189","display_name":"H\u00f4pital Couple Enfant","ror":"https://ror.org/00dxw4v18","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055","https://openalex.org/I4210091189"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre-Simon Jouk","raw_affiliation_strings":["Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France","D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de R\u00e9f\u00e9rence des Anomalies du D\u00e9veloppement, H\u00f4pital Couple Enfant, CHU Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I4210091189"]},{"raw_affiliation_string":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044423436","display_name":"Judith Melki","orcid":"https://orcid.org/0000-0002-9125-3171","observed_orcids":["https://orcid.org/0000-0002-9125-3171"]},"institutions":[{"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":"Judith Melki","raw_affiliation_strings":["Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre 94276, France","Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre94276, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre 94276, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale UMR-788, University of Paris 11, Biomedical Institute of Bic\u00eatre, Le Kremlin-Bic\u00eatre94276, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111807540","display_name":"Jo\u00ebl Lunardi","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/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210151160","display_name":"Grenoble Institute of Neurosciences","ror":"https://ror.org/04as3rk94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I2738703131","https://openalex.org/I4210151160","https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Jo\u00ebl Lunardi","raw_affiliation_strings":["Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Inserm U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]},{"raw_affiliation_string":"Laboratoire de Biochimie G\u00e9n\u00e9tique et Mol\u00e9culaire, D\u00e9partement de Biochimie, Pharmacologie, Toxicologie, CHU de Grenoble, Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5111807540"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210151160"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":4.1272,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.93839836,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"22","issue":"8","first_page":"1483","last_page":"1492"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13107","display_name":"Congenital limb and hand anomalies","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T13107","display_name":"Congenital limb and hand anomalies","score":0.9951000213623047,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T10441","display_name":"Muscle Physiology and Disorders","score":0.0024999999441206455,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/distal-arthrogryposis","display_name":"distal arthrogryposis","score":0.9710000157356262},{"id":"https://openalex.org/keywords/arthrogryposis-multiplex-congenita","display_name":"arthrogryposis multiplex congenita","score":0.9729999899864197},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.7429999709129333},{"id":"https://openalex.org/keywords/chromosome-2q37","display_name":"chromosome 2q37","score":0.7910000085830688},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.6140000224113464},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.8820000290870667},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8669999837875366},{"id":"https://openalex.org/keywords/homozygous-mutation","display_name":"homozygous mutation","score":0.7160000205039978},{"id":"https://openalex.org/keywords/muscle-atrophy","display_name":"muscle atrophy","score":0.6110000014305115},{"id":"https://openalex.org/keywords/congenital-contractures","display_name":"congenital contractures","score":0.7099999785423279},{"id":"https://openalex.org/keywords/motor-neuron-development","display_name":"motor neuron development","score":0.6729999780654907},{"id":"https://openalex.org/keywords/congenital-joint-contracture","display_name":"congenital joint contracture","score":0.5350000262260437}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8195571899414062},{"id":"https://openalex.org/C2781111119","wikidata":"https://www.wikidata.org/wiki/Q708165","display_name":"Arthrogryposis","level":2,"score":0.7212111949920654},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.56013423204422},{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.5531924962997437},{"id":"https://openalex.org/C2909521713","wikidata":"https://www.wikidata.org/wiki/Q708165","display_name":"Arthrogryposis multiplex congenita","level":3,"score":0.5282014012336731},{"id":"https://openalex.org/C2779768179","wikidata":"https://www.wikidata.org/wiki/Q1321884","display_name":"Congenital muscular dystrophy","level":3,"score":0.5275570750236511},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5209302306175232},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.44751688838005066},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41127437353134155},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.34639859199523926},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.2875821590423584},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2819306254386902}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001176","descriptor_name":"Arthrogryposis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","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":"D003241","descriptor_name":"Consanguinity","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":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","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":"D006720","descriptor_name":"Homozygote","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":"D006801","descriptor_name":"Humans","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008666","descriptor_name":"Metalloendopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008666","descriptor_name":"Metalloendopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008666","descriptor_name":"Metalloendopeptidases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009046","descriptor_name":"Motor Neurons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047108","descriptor_name":"Embryonic Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D047108","descriptor_name":"Embryonic Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D047108","descriptor_name":"Embryonic Development","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/hmg/dds514","doi":"https://doi.org/10.1093/hmg/dds514","is_oa":false,"landing_page_url":"https://doi.org/10.1093/hmg/dds514","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:23236030","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23236030","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:HAL:inserm-00904747v1","doi":null,"is_oa":false,"landing_page_url":"https://inserm.hal.science/inserm-00904747","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"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, 2013, 22 (8), pp.1483-92. ⟨10.1093/hmg/dds514⟩","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.7099999785423279,"display_name":"Good health and well-being","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":49,"referenced_works":["https://openalex.org/W1490669493","https://openalex.org/W1963558808","https://openalex.org/W1971001046","https://openalex.org/W1971782987","https://openalex.org/W1975606849","https://openalex.org/W1979983330","https://openalex.org/W1982074139","https://openalex.org/W1987552442","https://openalex.org/W1990943389","https://openalex.org/W1995201872","https://openalex.org/W1997877252","https://openalex.org/W2006468549","https://openalex.org/W2007630937","https://openalex.org/W2013890460","https://openalex.org/W2015492948","https://openalex.org/W2017416737","https://openalex.org/W2019088071","https://openalex.org/W2019094344","https://openalex.org/W2025376287","https://openalex.org/W2034346500","https://openalex.org/W2038103542","https://openalex.org/W2043386513","https://openalex.org/W2044573154","https://openalex.org/W2044667592","https://openalex.org/W2050707253","https://openalex.org/W2053884159","https://openalex.org/W2059089917","https://openalex.org/W2062489834","https://openalex.org/W2079149254","https://openalex.org/W2081390254","https://openalex.org/W2083949755","https://openalex.org/W2084183692","https://openalex.org/W2091723337","https://openalex.org/W2105306382","https://openalex.org/W2115582624","https://openalex.org/W2128300793","https://openalex.org/W2129233679","https://openalex.org/W2132316122","https://openalex.org/W2137137005","https://openalex.org/W2142289251","https://openalex.org/W2143055310","https://openalex.org/W2144090483","https://openalex.org/W2146735843","https://openalex.org/W2146970739","https://openalex.org/W2152315657","https://openalex.org/W2158875909","https://openalex.org/W2323937044","https://openalex.org/W4233023769","https://openalex.org/W4239152221"],"related_works":["https://openalex.org/W2048326150","https://openalex.org/W3207063397","https://openalex.org/W2461686977","https://openalex.org/W2073381422","https://openalex.org/W2185646559","https://openalex.org/W2791807802","https://openalex.org/W2255666408","https://openalex.org/W3022322768","https://openalex.org/W2323937044","https://openalex.org/W4313456927"],"abstract_inverted_index":{"Distal":[0],"arthrogryposis":[1,8],"(DA)":[2],"is":[3,29,138],"a":[4,12,46,73,106,124,139,161,189,216,222,247],"heterogeneous":[5],"subgroup":[6],"of":[7,15,49,79,105,108,121,126,135,168,179,182,227],"multiplex":[9],"congenita":[10],"(AMC),":[11],"large":[13],"family":[14],"disorders":[16],"characterized":[17,31,194],"by":[18,32,195],"multiple":[19],"congenital":[20],"joint":[21],"limitations":[22],"due":[23],"to":[24,65,81,201],"reduced":[25],"fetal":[26,153],"movements.":[27],"DA":[28,80,113,183,228],"mainly":[30],"contractures":[33],"afflicting":[34],"especially":[35],"the":[36,54,89,133,145,238,241],"distal":[37],"extremities":[38],"without":[39],"overt":[40],"muscular":[41],"or":[42,117],"neurological":[43],"signs.":[44],"Although":[45],"limited":[47,196],"number":[48],"genes":[50],"mostly":[51,131],"implicated":[52],"in":[53,60,68,84,97,123,132,144,155,164,171,234],"contractile":[55],"apparatus":[56],"have":[57],"been":[58],"identified":[59,114],"DA,":[61],"most":[62],"patients":[63,184],"failed":[64],"show":[66],"mutations":[67,120,187],"currently":[69],"known":[70],"genes.":[71],"Using":[72],"pangenomic":[74],"approach,":[75],"we":[76],"demonstrated":[77],"linkage":[78],"chromosome":[82],"2q37":[83],"two":[85],"consanguineous":[86],"families":[87,110],"and":[88,149,157,191,204,212,224,245],"endothelin-converting":[90],"enzyme":[91],"like":[92],"1":[93],"(ECEL1)":[94],"gene":[95],"present":[96],"this":[98],"region":[99],"was":[100],"associated":[101,229],"with":[102,111,185,230],"DA.":[103],"Screening":[104],"panel":[107],"20":[109],"non-specific":[112],"seven":[115],"homozygous":[116],"compound":[118],"heterozygous":[119],"ECEL1":[122,137,159,186,231],"total":[125],"six":[127],"families.":[128],"Mutations":[129],"resulted":[130,233],"absence":[134],"protein.":[136],"neuronal":[140],"endopeptidase":[141],"predominantly":[142],"expressed":[143],"central":[146,242],"nervous":[147,243],"system":[148,244],"brain":[150],"structures":[151],"during":[152,174],"life":[154],"mice":[156],"human.":[158],"plays":[160],"major":[162],"role":[163],"intramuscular":[165],"axonal":[166],"branching":[167],"motor":[169],"neurons":[170],"skeletal":[172],"muscle":[173,206],"embryogenesis.":[175],"A":[176],"detailed":[177],"review":[178],"clinical":[180],"findings":[181],"revealed":[188],"homogeneous":[190],"recognizable":[192],"phenotype":[193,226],"knee":[197],"flexion,":[198],"flexed":[199],"third":[200],"fifth":[202],"fingers":[203],"severe":[205],"atrophy":[207],"predominant":[208],"on":[209],"lower":[210],"limbs":[211],"tongue":[213],"that":[214,232],"suggested":[215],"common":[217],"pathogenic":[218],"mechanism.":[219],"We":[220],"described":[221],"new":[223],"homogenous":[225],"symptoms":[235],"involving":[236],"rather":[237],"peripheral":[239],"than":[240],"suggesting":[246],"developmental":[248],"dysfunction.":[249]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":7}],"updated_date":"2026-10-25T09:29:13.331239","created_date":"2025-10-10T00:00:00"}