{"id":"https://openalex.org/W3200823830","doi":"https://doi.org/10.1007/s00415-021-10806-0","title":"Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort","display_name":"Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort","publication_year":2021,"publication_date":"2021-09-24","ids":{"openalex":"https://openalex.org/W3200823830","doi":"https://doi.org/10.1007/s00415-021-10806-0","mag":"3200823830","pmid":"https://pubmed.ncbi.nlm.nih.gov/34559299"},"language":"en","primary_location":{"id":"doi:10.1007/s00415-021-10806-0","doi":"https://doi.org/10.1007/s00415-021-10806-0","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00415-021-10806-0","pdf_url":null,"source":{"id":"https://openalex.org/S175814247","display_name":"Journal of Neurology","issn_l":"0012-1037","issn":["0012-1037","0340-5354","1432-1459"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://researchprofiles.ku.dk/da/publications/61f85718-aecb-4675-bc84-a1a04980469b","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"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/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/I4210129617","display_name":"Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologie appliqu\u00e9es","ror":"https://ror.org/02nxezb95","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I195731000","https://openalex.org/I277688954","https://openalex.org/I4210129617"]},{"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":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","Universit\u00e9 de Versailles, U1179 INSERM-UVSQ, Versailles, France","AP-HP. Universit\u00e9 Paris Saclay (France)","END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"Universit\u00e9 de Versailles, U1179 INSERM-UVSQ, Versailles, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I195731000"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210129617"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112068636","display_name":"Jana Haberlov\u00e1","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097985","display_name":"University Hospital in Motol","ror":"https://ror.org/0125yxn03","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210097985","https://openalex.org/I4405269046"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Jana Haberlova","raw_affiliation_strings":["Department of Paediatric Neurology, Motol University Hospital, Prague, Czech Republic","University Hospital Motol [Prague] (V \u00davalu 84, 150 00 Praha 5, - Czech Republic)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Neurology, Motol University Hospital, Prague, Czech Republic","institution_ids":["https://openalex.org/I4210097985"]},{"raw_affiliation_string":"University Hospital Motol [Prague] (V \u00davalu 84, 150 00 Praha 5, - Czech Republic)","institution_ids":["https://openalex.org/I4210097985"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085175000","display_name":"Claudia Castiglioni T","orcid":"https://orcid.org/0000-0002-1981-7550","observed_orcids":["https://orcid.org/0000-0002-1981-7550"]},"institutions":[{"id":"https://openalex.org/I4210086110","display_name":"Cl\u00ednica Las Condes","ror":"https://ror.org/00j5bwe91","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210086110"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Claudia Castiglioni","raw_affiliation_strings":["Instituto Nacional de Rehabilitaci\u00f3n Pedro Aguirre Cerda, Santiago de Chile, Chile","Pediatric Neurology Department, Clinica Las Condes, Santiago de Chile, Chile","Clinica Las Condes (Santiago - Chile)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Rehabilitaci\u00f3n Pedro Aguirre Cerda, Santiago de Chile, Chile","institution_ids":[]},{"raw_affiliation_string":"Pediatric Neurology Department, Clinica Las Condes, Santiago de Chile, Chile","institution_ids":["https://openalex.org/I4210086110"]},{"raw_affiliation_string":"Clinica Las Condes (Santiago - Chile)","institution_ids":["https://openalex.org/I4210086110"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004880821","display_name":"John Vissing","orcid":"https://orcid.org/0000-0001-6144-8544","observed_orcids":["https://orcid.org/0000-0001-6144-8544"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2802709434","display_name":"Rigshospitalet","ror":"https://ror.org/03mchdq19","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I2802709434","https://openalex.org/I4210145385"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"John Vissing","raw_affiliation_strings":["Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark","UCPH - University of Copenhagen = K\u00f8benhavns Universitet (N\u00f8rregade 10, 1165 K\u00f8benhavn, Danemark - Denmark)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark","institution_ids":["https://openalex.org/I124055696","https://openalex.org/I2802709434"]},{"raw_affiliation_string":"UCPH - University of Copenhagen = K\u00f8benhavns Universitet (N\u00f8rregade 10, 1165 K\u00f8benhavn, Danemark - Denmark)","institution_ids":["https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003721649","display_name":"Francina Munell","orcid":"https://orcid.org/0000-0001-8580-2819","observed_orcids":["https://orcid.org/0000-0001-8580-2819"]},"institutions":[{"id":"https://openalex.org/I4210102407","display_name":"Vall d'Hebron Institut de Recerca","ror":"https://ror.org/01d5vx451","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210102407","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210127641","display_name":"Vall d'Hebron Hospital Universitari","ror":"https://ror.org/03ba28x55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210127641","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Francina Munell","raw_affiliation_strings":["Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035","Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035","institution_ids":["https://openalex.org/I4210102407","https://openalex.org/I4210127641"]},{"raw_affiliation_string":"Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)","institution_ids":["https://openalex.org/I4210127641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007360924","display_name":"Fran\u00e7ois Rivier","orcid":"https://orcid.org/0000-0002-3896-8792","observed_orcids":["https://orcid.org/0000-0002-3896-8792"]},"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"]},{"id":"https://openalex.org/I19894307","display_name":"Universit\u00e9 de Montpellier","ror":"https://ror.org/051escj72","country_code":"FR","type":"education","lineage":["https://openalex.org/I19894307"]},{"id":"https://openalex.org/I4210086516","display_name":"Physiologie et M\u00e9decine Exp\u00e9rimentale du Coeur et des Muscles","ror":"https://ror.org/003sscq03","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210086516","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210093292","display_name":"Centre Hospitalier Universitaire de Montpellier","ror":"https://ror.org/00mthsf17","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292"]},{"id":"https://openalex.org/I4210147545","display_name":"H\u00f4pital Arnaud de Villeneuve","ror":"https://ror.org/04m6sq715","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210147545"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fran\u00e7ois Rivier","raw_affiliation_strings":["Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, CHU Montpellier, Montpellier, France","PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France","CHRU Montpellier - Centre Hospitalier R\u00e9gional Universitaire [Montpellier] (191 avenue du doyen Gaston Giraud 34295 Montpellier - France)","PhyMedExp - Physiologie & m\u00e9decine exp\u00e9rimentale du C\u0153ur et des Muscles [U 1046] (371 Avenue du Doyen G. Giraud, CHU Arnaud de Villeneuve, B\u00e2timent INSERM Crastes de Paulet - 34295 Montpellier Cedex 5 - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Neurology and Reference Center for Neuromuscular Diseases AOC, CHU Montpellier, Montpellier, France","institution_ids":["https://openalex.org/I4210093292"]},{"raw_affiliation_string":"PhyMedExp, University of Montpellier, INSERM, CNRS, Montpellier, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I19894307","https://openalex.org/I4210086516"]},{"raw_affiliation_string":"CHRU Montpellier - Centre Hospitalier R\u00e9gional Universitaire [Montpellier] (191 avenue du doyen Gaston Giraud 34295 Montpellier - France)","institution_ids":["https://openalex.org/I4210093292"]},{"raw_affiliation_string":"PhyMedExp - Physiologie & m\u00e9decine exp\u00e9rimentale du C\u0153ur et des Muscles [U 1046] (371 Avenue du Doyen G. Giraud, CHU Arnaud de Villeneuve, B\u00e2timent INSERM Crastes de Paulet - 34295 Montpellier Cedex 5 - France)","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210086516","https://openalex.org/I4210147545"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018913953","display_name":"Tanya Stojkovic","orcid":"https://orcid.org/0000-0002-4054-2838","observed_orcids":["https://orcid.org/0000-0002-4054-2838"]},"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/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"]},{"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":"Tanya Stojkovic","raw_affiliation_strings":["APHP, Neuromuscular Reference Center, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Institute of Myology, Paris, France","CHU Piti\u00e9-Salp\u00eatri\u00e8re [AP-HP] (47-83 Boulevard de l'H\u00f4pital, 75013 Paris - France)","Institut de Myologie (H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re 75013 Paris - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, Neuromuscular Reference Center, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Institute of Myology, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210113666","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"CHU Piti\u00e9-Salp\u00eatri\u00e8re [AP-HP] (47-83 Boulevard de l'H\u00f4pital, 75013 Paris - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Institut de Myologie (H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re 75013 Paris - France)","institution_ids":["https://openalex.org/I4210113666","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000707958","display_name":"Edoardo Malfatti","orcid":"https://orcid.org/0000-0001-7871-8600","observed_orcids":["https://orcid.org/0000-0001-7871-8600","https://orcid.org/0000-0001-5485-9521"]},"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/I3019246885","display_name":"Centre Hospitalier Universitaire Henri-Mondor","ror":"https://ror.org/04m61mj84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019246885"]},{"id":"https://openalex.org/I4210130325","display_name":"H\u00f4pitaux Universitaires Henri-Mondor","ror":"https://ror.org/033yb0967","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210130325"]},{"id":"https://openalex.org/I4210159433","display_name":"Institut Mondor de Recherche Biom\u00e9dicale","ror":"https://ror.org/04qe59j94","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I17606148","https://openalex.org/I197681013","https://openalex.org/I2800365227","https://openalex.org/I4210159433"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Edoardo Malfatti","raw_affiliation_strings":["Univ Paris Est UPE, INSERM, U955 IMRB, APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, H\u00f4pital Henri Mondor, Cr\u00e9teil, France","CHU Henri Mondor [Cr\u00e9teil] (Cr\u00e9teil - France)","IMRB - Institut Mondor de Recherche Biom\u00e9dicale (8 rue du G\u00e9n\u00e9ral Sarrail 94010 Cr\u00e9teil - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ Paris Est UPE, INSERM, U955 IMRB, APHP, Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, H\u00f4pital Henri Mondor, Cr\u00e9teil, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210130325","https://openalex.org/I4210159433"]},{"raw_affiliation_string":"CHU Henri Mondor [Cr\u00e9teil] (Cr\u00e9teil - France)","institution_ids":["https://openalex.org/I3019246885","https://openalex.org/I4210130325"]},{"raw_affiliation_string":"IMRB - Institut Mondor de Recherche Biom\u00e9dicale (8 rue du G\u00e9n\u00e9ral Sarrail 94010 Cr\u00e9teil - France)","institution_ids":["https://openalex.org/I4210159433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104086188","display_name":"Marta G\u00f3mez Garc\u00eda de la Banda","orcid":"https://orcid.org/0000-0002-2252-0694","observed_orcids":["https://orcid.org/0000-0002-2252-0694"]},"institutions":[{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/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":"Marta G\u00f3mez Garc\u00eda de la Banda","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","AP-HP. Universit\u00e9 Paris Saclay (France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066411369","display_name":"Giorgio A. Tasca","orcid":"https://orcid.org/0000-0003-0849-9144","observed_orcids":["https://orcid.org/0000-0003-0849-9144","https://orcid.org/0000-0001-7596-0661"]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giorgio Tasca","raw_affiliation_strings":["Unit\u00e0 Operativa Complessa Di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia","Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Largo Agostino Gemelli, 8, 00168 Roma - Italy)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 Operativa Complessa Di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Largo Agostino Gemelli, 8, 00168 Roma - Italy)","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040564205","display_name":"Laura Costa Comellas","orcid":"https://orcid.org/0000-0002-1180-8772","observed_orcids":["https://orcid.org/0000-0002-1180-8772"]},"institutions":[{"id":"https://openalex.org/I4210102407","display_name":"Vall d'Hebron Institut de Recerca","ror":"https://ror.org/01d5vx451","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210102407","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210127641","display_name":"Vall d'Hebron Hospital Universitari","ror":"https://ror.org/03ba28x55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210127641","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Laura Costa Comellas","raw_affiliation_strings":["Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035","Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035","institution_ids":["https://openalex.org/I4210102407","https://openalex.org/I4210127641"]},{"raw_affiliation_string":"Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)","institution_ids":["https://openalex.org/I4210127641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014960952","display_name":"A. B\u00e9n\u00e9zit","orcid":"https://orcid.org/0000-0002-3226-1083","observed_orcids":["https://orcid.org/0000-0002-3226-1083"]},"institutions":[{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/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":"Audrey Benezit","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","AP-HP. Universit\u00e9 Paris Saclay (France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044126737","display_name":"Helge Amthor","orcid":"https://orcid.org/0000-0003-1008-719X","observed_orcids":["https://orcid.org/0000-0003-1008-719X","https://orcid.org/0000-0002-4903-6384"]},"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/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/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/I4210129617","display_name":"Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologie appliqu\u00e9es","ror":"https://ror.org/02nxezb95","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I195731000","https://openalex.org/I277688954","https://openalex.org/I4210129617"]},{"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":"Helge Amthor","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","Universit\u00e9 de Versailles, U1179 INSERM-UVSQ, Versailles, France","AP-HP. Universit\u00e9 Paris Saclay (France)","END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"Universit\u00e9 de Versailles, U1179 INSERM-UVSQ, Versailles, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I195731000"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210129617"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009094210","display_name":"Ivana Dabaj","orcid":"https://orcid.org/0000-0002-2324-1208","observed_orcids":["https://orcid.org/0000-0002-2324-1208"]},"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/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/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"]},{"id":"https://openalex.org/I4210154623","display_name":"Centre Hospitalier Universitaire de Rouen","ror":"https://ror.org/04cdk4t75","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210154623"]},{"id":"https://openalex.org/I4392021138","display_name":"G\u00e9nomique du cancer et du cerveau","ror":"https://ror.org/05k71g406","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I4210105918","https://openalex.org/I4392021138","https://openalex.org/I62396329"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ivana Dabaj","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","CHU de Rouen, Service de N\u00e9onatologie, R\u00e9animation p\u00e9diatrique, Neurop\u00e9diatrie et \u00c9ducation Fonctionnelle de L'enfant, INSERM U 1245, ED497, 76000, Rouen, France","AP-HP. Universit\u00e9 Paris Saclay (France)","CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)","CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)","GPMCND - G\u00e9nomique et M\u00e9decine Personnalis\u00e9e du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"CHU de Rouen, Service de N\u00e9onatologie, R\u00e9animation p\u00e9diatrique, Neurop\u00e9diatrie et \u00c9ducation Fonctionnelle de L'enfant, INSERM U 1245, ED497, 76000, Rouen, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210154623"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"CBG - Cancer and Brain Genomics (22, Boulevard Gambetta 76183 Rouen Cedex - France)","institution_ids":["https://openalex.org/I4392021138"]},{"raw_affiliation_string":"CHU Rouen (1 rue de Germont 76031 Rouen cedex - France)","institution_ids":["https://openalex.org/I4210154623"]},{"raw_affiliation_string":"GPMCND - G\u00e9nomique et M\u00e9decine Personnalis\u00e9e du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)","institution_ids":[]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074212941","display_name":"Clara Gontijo Camelo","orcid":"https://orcid.org/0000-0002-2319-8027","observed_orcids":["https://orcid.org/0000-0002-2319-8027"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Clara Gontijo Camelo","raw_affiliation_strings":["Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP), S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027654969","display_name":"Pascal Lafor\u00eat","orcid":"https://orcid.org/0000-0002-4489-4718","observed_orcids":["https://orcid.org/0000-0002-4489-4718"]},"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/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/I4210129617","display_name":"Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologie appliqu\u00e9es","ror":"https://ror.org/02nxezb95","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I195731000","https://openalex.org/I277688954","https://openalex.org/I4210129617"]},{"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":"Pascal Lafor\u00eat","raw_affiliation_strings":["Nord/Est/Ile de France Neuromuscular Reference Center, PHENIX FHU, H\u00f4pital Raymond-Poincar\u00e9, AP-HP. INSERM U1179, Garches, France","END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nord/Est/Ile de France Neuromuscular Reference Center, PHENIX FHU, H\u00f4pital Raymond-Poincar\u00e9, AP-HP. INSERM U1179, Garches, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"END-ICAP - Handicap neuromusculaire : Physiopathologie, Bioth\u00e9rapie et Pharmacologies appliqu\u00e9es (Universit\u00e9 de Versailles St-Quentin-en-Yvelines\r\nUFR des sciences de la Sant\u00e9 \r\nB\u00e2timent Simone Veil \r\n2 avenue de la source de la Bi\u00e8vre\r\n78 180 Montigny-le-Bretonneux - France)","institution_ids":["https://openalex.org/I195731000","https://openalex.org/I4210129617"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072439607","display_name":"John Rendu","orcid":"https://orcid.org/0000-0002-0377-0807","observed_orcids":["https://orcid.org/0000-0002-0377-0807"]},"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"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"John Rendu","raw_affiliation_strings":["Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, Grenoble, France","CHUGA - Centre Hospitalier Universitaire [CHU Grenoble] (CS 10217\r\n38043 Grenoble cedex 9 - France)","Dynamique et Structure du Cytosquelette Neuronal (B\u00e2timent Edmond J. Safra\r\nChemin Fortun\u00e9 Ferrini,\r\n38706 La Tronche - France)","UGA - Universit\u00e9 Grenoble Alpes (Adresse CS 40700 - 38058 Grenoble cedex - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, GIN, Grenoble, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210151160"]},{"raw_affiliation_string":"CHUGA - Centre Hospitalier Universitaire [CHU Grenoble] (CS 10217\r\n38043 Grenoble cedex 9 - France)","institution_ids":["https://openalex.org/I2800555055"]},{"raw_affiliation_string":"Dynamique et Structure du Cytosquelette Neuronal (B\u00e2timent Edmond J. Safra\r\nChemin Fortun\u00e9 Ferrini,\r\n38706 La Tronche - France)","institution_ids":[]},{"raw_affiliation_string":"UGA - Universit\u00e9 Grenoble Alpes (Adresse CS 40700 - 38058 Grenoble cedex - France)","institution_ids":["https://openalex.org/I899635006"]}]},{"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"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/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"]},{"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"]},{"id":"https://openalex.org/I4389425387","display_name":"Centre de Recherche en Myologie","ror":"https://ror.org/02e3eqz10","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4389425387"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Norma B. Romero","raw_affiliation_strings":["Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est, GHU Piti\u00e9-Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, Paris, France","Sorbonne Universit\u00e9, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France","Institut de Myologie (H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re 75013 Paris - France)","SU - Sorbonne Universite\u0301 (21 rue de l\u2019\u00c9cole de m\u00e9decine - 75006 Paris - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de R\u00e9f\u00e9rence de Pathologie Neuromusculaire Paris-Est, GHU Piti\u00e9-Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Sorbonne Universit\u00e9, Myology Institute, Neuromuscular Morphology Unit, Center for Research in Myology, GH Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I39804081","https://openalex.org/I4210113666","https://openalex.org/I4210121705","https://openalex.org/I4389425387"]},{"raw_affiliation_string":"Institut de Myologie (H\u00f4pital de la Piti\u00e9 Salp\u00eatri\u00e8re 75013 Paris - France)","institution_ids":["https://openalex.org/I4210113666","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"SU - Sorbonne Universite\u0301 (21 rue de l\u2019\u00c9cole de m\u00e9decine - 75006 Paris - France)","institution_ids":["https://openalex.org/I39804081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029982371","display_name":"Eliana Cavassa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/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":"Eliana Cavassa","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","AP-HP. Universit\u00e9 Paris Saclay (France)","H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Raymond Poincar\u00e9 [AP-HP] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210134648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084219612","display_name":"Fabiana Fattori","orcid":"https://orcid.org/0000-0002-1820-8489","observed_orcids":["https://orcid.org/0000-0002-1820-8489"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Fabiana Fattori","raw_affiliation_strings":["Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","IRCCS Ospedale Pediatrico Bambino Ges\u00f9 = Bambino Ges\u00f9 Children\u2019s Hospital (00165 Rome - Italy)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit for Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]},{"raw_affiliation_string":"IRCCS Ospedale Pediatrico Bambino Ges\u00f9 = Bambino Ges\u00f9 Children\u2019s Hospital (00165 Rome - Italy)","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085042865","display_name":"Christophe B\u00e9roud","orcid":"https://orcid.org/0000-0003-2986-8738","observed_orcids":["https://orcid.org/0000-0003-2986-8738"]},"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/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"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"]},{"id":"https://openalex.org/I4387155458","display_name":"Centre de G\u00e9n\u00e9tique M\u00e9dicale de Marseille","ror":"https://ror.org/01e4wd589","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I21491767","https://openalex.org/I4387155458"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Beroud","raw_affiliation_strings":["APHM, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital TIMONE Enfants; Aix Marseille University, INSERM, MMG, Marseille, France","D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale [H\u00f4pital de la Timone - APHM] (H\u00f4pital de la Timone \r\n264, rue Saint Pierre 13385 Marseille Cedex 5 - France)","MMG - Marseille medical genetics - Centre de g\u00e9n\u00e9tique m\u00e9dicale de Marseille (Facult\u00e9 de M\u00e9decine - Timone\r\n27, boulevard Jean Moulin\r\n13385 Marseille cedex 5 - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHM, Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital TIMONE Enfants; Aix Marseille University, INSERM, MMG, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767","https://openalex.org/I4210162909"]},{"raw_affiliation_string":"D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale [H\u00f4pital de la Timone - APHM] (H\u00f4pital de la Timone \r\n264, rue Saint Pierre 13385 Marseille Cedex 5 - France)","institution_ids":["https://openalex.org/I4210162909"]},{"raw_affiliation_string":"MMG - Marseille medical genetics - Centre de g\u00e9n\u00e9tique m\u00e9dicale de Marseille (Facult\u00e9 de M\u00e9decine - Timone\r\n27, boulevard Jean Moulin\r\n13385 Marseille cedex 5 - France)","institution_ids":["https://openalex.org/I4387155458"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102993240","display_name":"Jana Z\u00eddkov\u00e1","orcid":"https://orcid.org/0000-0002-8729-6005","observed_orcids":["https://orcid.org/0000-0002-8729-6005"]},"institutions":[{"id":"https://openalex.org/I4210102302","display_name":"University Hospital Brno","ror":"https://ror.org/00qq1fp34","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210102302"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Jana Z\u00eddkov\u00e1","raw_affiliation_strings":["Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic","University Hospital Brno (Jihlavsk\u00e1 20, CZ - 625 00 Brno - Czech Republic)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic","institution_ids":["https://openalex.org/I4210102302"]},{"raw_affiliation_string":"University Hospital Brno (Jihlavsk\u00e1 20, CZ - 625 00 Brno - Czech Republic)","institution_ids":["https://openalex.org/I4210102302"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035339548","display_name":"Nicolas Leboucq","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093292","display_name":"Centre Hospitalier Universitaire de Montpellier","ror":"https://ror.org/00mthsf17","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Leboucq","raw_affiliation_strings":["Radiology Department, CHU Montpellier, Montpellier, France","CHU Montpellier = Montpellier University Hospital (371, avenue du Doyen Gaston Giraud 34295 MONTPELLIER cedex 5 - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Radiology Department, CHU Montpellier, Montpellier, France","institution_ids":["https://openalex.org/I4210093292"]},{"raw_affiliation_string":"CHU Montpellier = Montpellier University Hospital (371, avenue du Doyen Gaston Giraud 34295 MONTPELLIER cedex 5 - France)","institution_ids":["https://openalex.org/I4210093292"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045264364","display_name":"Nicoline L\u00f8kken","orcid":"https://orcid.org/0000-0002-5494-8484","observed_orcids":["https://orcid.org/0000-0002-5494-8484"]},"institutions":[{"id":"https://openalex.org/I124055696","display_name":"University of Copenhagen","ror":"https://ror.org/035b05819","country_code":"DK","type":"education","lineage":["https://openalex.org/I124055696"]},{"id":"https://openalex.org/I2802709434","display_name":"Rigshospitalet","ror":"https://ror.org/03mchdq19","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I2802709434","https://openalex.org/I4210145385"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"Nicoline L\u00f8kken","raw_affiliation_strings":["Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark","UCPH - University of Copenhagen = K\u00f8benhavns Universitet (N\u00f8rregade 10, 1165 K\u00f8benhavn, Danemark - Denmark)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark","institution_ids":["https://openalex.org/I124055696","https://openalex.org/I2802709434"]},{"raw_affiliation_string":"UCPH - University of Copenhagen = K\u00f8benhavns Universitet (N\u00f8rregade 10, 1165 K\u00f8benhavn, Danemark - Denmark)","institution_ids":["https://openalex.org/I124055696"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051141975","display_name":"\u00c1ngel S\u00e1nchez\u2010Mont\u00e1\u00f1ez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210127641","display_name":"Vall d'Hebron Hospital Universitari","ror":"https://ror.org/03ba28x55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210127641","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"\u00c1ngel Sanchez-Monta\u00f1ez","raw_affiliation_strings":["Pediatric Neuroradiology, Radiology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain","Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neuroradiology, Radiology Department, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain","institution_ids":["https://openalex.org/I4210127641"]},{"raw_affiliation_string":"Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)","institution_ids":["https://openalex.org/I4210127641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108713003","display_name":"Ximena Ortega","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086110","display_name":"Cl\u00ednica Las Condes","ror":"https://ror.org/00j5bwe91","country_code":"CL","type":"healthcare","lineage":["https://openalex.org/I4210086110"]}],"countries":["CL"],"is_corresponding":false,"raw_author_name":"Ximena Ortega","raw_affiliation_strings":["Diagnostic Imaging Service, Clinica Las Condes, Santiago de Chile, Chile"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Diagnostic Imaging Service, Clinica Las Condes, Santiago de Chile, Chile","institution_ids":["https://openalex.org/I4210086110"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032406357","display_name":"Martin Kyn\u010dl","orcid":"https://orcid.org/0000-0001-6210-6351","observed_orcids":["https://orcid.org/0000-0001-6210-6351"]},"institutions":[{"id":"https://openalex.org/I4210097985","display_name":"University Hospital in Motol","ror":"https://ror.org/0125yxn03","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210097985","https://openalex.org/I4405269046"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Martin Kyn\u010dl","raw_affiliation_strings":["Department of Radiology, Motol University Hospital, Prague, Czech Republic","University Hospital Motol [Prague] (V \u00davalu 84, 150 00 Praha 5, - Czech Republic)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, Motol University Hospital, Prague, Czech Republic","institution_ids":["https://openalex.org/I4210097985"]},{"raw_affiliation_string":"University Hospital Motol [Prague] (V \u00davalu 84, 150 00 Praha 5, - Czech Republic)","institution_ids":["https://openalex.org/I4210097985"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054788134","display_name":"Corinne M\u00e9tay","orcid":"https://orcid.org/0000-0001-5161-2662","observed_orcids":["https://orcid.org/0000-0001-5161-2662"]},"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/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"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"]},{"id":"https://openalex.org/I4389425387","display_name":"Centre de Recherche en Myologie","ror":"https://ror.org/02e3eqz10","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4389425387"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Corinne Metay","raw_affiliation_strings":["AP-HP, UF Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, GH Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France","Sorbonne Universit\u00e9 - Inserm UMRS974, Centre de Recherche en Myologie, GH Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France","CHU Piti\u00e9-Salp\u00eatri\u00e8re [AP-HP] (47-83 Boulevard de l'H\u00f4pital, 75013 Paris - France)","Centre de recherche en Myologie \u2013 U974 SU-INSERM (Facult\u00e9 de M\u00e9decine Sorbonne Universit\u00e9\r\nSite Piti\u00e9 Salp\u00eatri\u00e8re\r\n105 boulevard de l\u2019H\u00f4pital \r\n 75013 Paris - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, UF Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, GH Piti\u00e9 Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Sorbonne Universit\u00e9 - Inserm UMRS974, Centre de Recherche en Myologie, GH Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210121705","https://openalex.org/I4389425387"]},{"raw_affiliation_string":"CHU Piti\u00e9-Salp\u00eatri\u00e8re [AP-HP] (47-83 Boulevard de l'H\u00f4pital, 75013 Paris - France)","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Centre de recherche en Myologie \u2013 U974 SU-INSERM (Facult\u00e9 de M\u00e9decine Sorbonne Universit\u00e9\r\nSite Piti\u00e9 Salp\u00eatri\u00e8re\r\n105 boulevard de l\u2019H\u00f4pital \r\n 75013 Paris - France)","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4389425387"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044074469","display_name":"David G\u00f3mez\u2010Andr\u00e9s","orcid":"https://orcid.org/0000-0001-5654-7791","observed_orcids":["https://orcid.org/0000-0001-5654-7791"]},"institutions":[{"id":"https://openalex.org/I4210102407","display_name":"Vall d'Hebron Institut de Recerca","ror":"https://ror.org/01d5vx451","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210102407","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210127641","display_name":"Vall d'Hebron Hospital Universitari","ror":"https://ror.org/03ba28x55","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I157913058","https://openalex.org/I4210127641","https://openalex.org/I4210153292"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"David G\u00f3mez-Andr\u00e9s","raw_affiliation_strings":["Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035. david_gomez@vhebron.net","Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)"],"raw_orcid":"https://orcid.org/0000-0001-5654-7791","affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain, Passeig de la Vall d'Hebron 119-129, 08035. david_gomez@vhebron.net","institution_ids":["https://openalex.org/I4210102407","https://openalex.org/I4210127641"]},{"raw_affiliation_string":"Vall d'Hebron University Hospital [Barcelona] (C/ Natzaret, 115-117\r\n08035 Barcelona - Spain)","institution_ids":["https://openalex.org/I4210127641"]}]},{"author_position":"last","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/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["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/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 Y. Carlier","raw_affiliation_strings":["APHP, GH Universit\u00e9 Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond Poincar\u00e9 Teaching Hospital, Garches, France","AP-HP. Universit\u00e9 Paris Saclay (France)","Service d'Imagerie M\u00e9dicale [Raymond-Poincar\u00e9] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"APHP, GH Universit\u00e9 Paris-Saclay, DMU Smart Imaging, Medical Imaging Department, Raymond Poincar\u00e9 Teaching Hospital, Garches, France","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210134648"]},{"raw_affiliation_string":"AP-HP. Universit\u00e9 Paris Saclay (France)","institution_ids":["https://openalex.org/I277688954","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Service d'Imagerie M\u00e9dicale [Raymond-Poincar\u00e9] (104 Boulevard Raymond Poincar\u00e9, 92380 Garches - France)","institution_ids":["https://openalex.org/I4210134648"]}]}],"institutions":[],"countries_distinct_count":7,"institutions_distinct_count":37,"corresponding_author_ids":["https://openalex.org/A5044074469"],"corresponding_institution_ids":["https://openalex.org/I4210102407","https://openalex.org/I4210127641"],"apc_list":{"value":3760,"currency":"USD","value_usd":3760},"apc_paid":null,"fwci":0.5593,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.56183664,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"269","issue":"5","first_page":"2414","last_page":"2429"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.9336000084877014,"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":0.9336000084877014,"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/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.04019999876618385,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.003000000026077032,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/lama2-related-muscular-dystrophy","display_name":"LAMA2-related muscular dystrophy","score":0.9779999852180481},{"id":"https://openalex.org/keywords/laminin-211","display_name":"laminin-211","score":0.7649999856948853},{"id":"https://openalex.org/keywords/merosin-deficiency","display_name":"merosin deficiency","score":0.9179999828338623},{"id":"https://openalex.org/keywords/whole-body-mri","display_name":"whole-body MRI","score":0.7950000166893005},{"id":"https://openalex.org/keywords/outpatients","display_name":"outpatients","score":0.5450000166893005},{"id":"https://openalex.org/keywords/disease-duration","display_name":"disease duration","score":0.5830000042915344},{"id":"https://openalex.org/keywords/collagenopathies","display_name":"collagenopathies","score":0.7820000052452087},{"id":"https://openalex.org/keywords/subscapularis-muscle","display_name":"subscapularis","score":0.7440000176429749},{"id":"https://openalex.org/keywords/thigh-muscle","display_name":"thigh muscle","score":0.6449999809265137},{"id":"https://openalex.org/keywords/brain-abnormalities","display_name":"brain abnormalities","score":0.382999986410141},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.5199999809265137},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.9110000133514404}],"concepts":[{"id":"https://openalex.org/C2779889316","wikidata":"https://www.wikidata.org/wiki/Q642836","display_name":"Neuroradiology","level":3,"score":0.7107496857643127},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6793290972709656},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.6470462679862976},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4945656955242157},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4693886637687683},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.4158838093280792},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4027407467365265},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.3729526996612549},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.2594379186630249},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.23804405331611633},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.10526609420776367}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"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":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D051598","descriptor_name":"Whole Body Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1007/s00415-021-10806-0","doi":"https://doi.org/10.1007/s00415-021-10806-0","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s00415-021-10806-0","pdf_url":null,"source":{"id":"https://openalex.org/S175814247","display_name":"Journal of Neurology","issn_l":"0012-1037","issn":["0012-1037","0340-5354","1432-1459"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Neurology","raw_type":"journal-article"},{"id":"pmid:34559299","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34559299","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":"Journal of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire/61f85718-aecb-4675-bc84-a1a04980469b","doi":null,"is_oa":true,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/61f85718-aecb-4675-bc84-a1a04980469b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:HAL:hal-03359688v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/hal-03359688","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Neurology, 2022, 269, pp.2414-2429. ⟨10.1007/s00415-021-10806-0⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:HAL:hal-05788914v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-05788914","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":"Journal of Neurology, 2021, 269 (5), pp.2414-2429. ⟨10.1007/s00415-021-10806-0⟩","raw_type":"info:eu-repo/semantics/article"},{"id":"doi:10.25405/ncl.34468188","doi":"https://doi.org/10.25405/ncl.34468188","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34468188","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"},{"id":"doi:10.25405/ncl.34468188.v1","doi":"https://doi.org/10.25405/ncl.34468188.v1","is_oa":true,"landing_page_url":"https://doi.org/10.25405/ncl.34468188.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4306402485","display_name":"Newcastle University ePrints (Newcastle Univesity)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I84884186","host_organization_name":"Newcastle University","host_organization_lineage":["https://openalex.org/I84884186"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"JournalArticle"}],"best_oa_location":{"id":"pmh:oai:pure.atira.dk:openaire/61f85718-aecb-4675-bc84-a1a04980469b","doi":null,"is_oa":true,"landing_page_url":"https://researchprofiles.ku.dk/da/publications/61f85718-aecb-4675-bc84-a1a04980469b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401983","display_name":"Research at the University of Copenhagen (University of Copenhagen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I124055696","host_organization_name":"University of Copenhagen","host_organization_lineage":["https://openalex.org/I124055696"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G5118386743","display_name":null,"funder_award_id":"BM1304","funder_id":"https://openalex.org/F4320320366","funder_display_name":"European Cooperation in Science and Technology"}],"funders":[{"id":"https://openalex.org/F4320320366","display_name":"European Cooperation in Science and Technology","ror":"https://ror.org/01bstzn19"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":43,"referenced_works":["https://openalex.org/W1422903567","https://openalex.org/W1473177128","https://openalex.org/W1492942312","https://openalex.org/W1677773899","https://openalex.org/W1754832708","https://openalex.org/W1843526040","https://openalex.org/W1965932737","https://openalex.org/W1967239176","https://openalex.org/W1990815434","https://openalex.org/W1991680249","https://openalex.org/W2025615363","https://openalex.org/W2032875488","https://openalex.org/W2040206552","https://openalex.org/W2050957628","https://openalex.org/W2051978340","https://openalex.org/W2057072817","https://openalex.org/W2065762579","https://openalex.org/W2067952001","https://openalex.org/W2084159997","https://openalex.org/W2087244480","https://openalex.org/W2111591442","https://openalex.org/W2141984651","https://openalex.org/W2167964775","https://openalex.org/W2289088648","https://openalex.org/W2465333921","https://openalex.org/W2484191227","https://openalex.org/W2546790395","https://openalex.org/W2751868548","https://openalex.org/W2769377246","https://openalex.org/W2769416830","https://openalex.org/W2788030505","https://openalex.org/W2803163868","https://openalex.org/W2803697107","https://openalex.org/W2885009200","https://openalex.org/W2895038825","https://openalex.org/W2906159480","https://openalex.org/W2947329762","https://openalex.org/W2974900794","https://openalex.org/W2976169190","https://openalex.org/W3018233192","https://openalex.org/W3047478869","https://openalex.org/W3117927479","https://openalex.org/W3181507535"],"related_works":["https://openalex.org/W3203367045","https://openalex.org/W2155807506","https://openalex.org/W2516185717","https://openalex.org/W2754496451","https://openalex.org/W2766492945","https://openalex.org/W2511541675","https://openalex.org/W7098591398","https://openalex.org/W2728259588","https://openalex.org/W2766598516","https://openalex.org/W2546790395"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2021-09-27T00:00:00"}