{"id":"https://openalex.org/W3012809876","doi":"https://doi.org/10.1371/journal.pone.0230677","title":"Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?","display_name":"Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?","publication_year":2020,"publication_date":"2020-03-23","ids":{"openalex":"https://openalex.org/W3012809876","doi":"https://doi.org/10.1371/journal.pone.0230677","mag":"3012809876","pmid":"https://pubmed.ncbi.nlm.nih.gov/32203538","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7089564"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0230677","doi":"https://doi.org/10.1371/journal.pone.0230677","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0230677","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0230677&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0230677&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045556511","display_name":"Maria Carmela Pera","orcid":"https://orcid.org/0000-0001-6777-1721","observed_orcids":["https://orcid.org/0000-0001-6777-1721"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Maria Carmela Pera","raw_affiliation_strings":["Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019618895","display_name":"Giorgia Coratti","orcid":"https://orcid.org/0000-0001-6666-5628","observed_orcids":["https://orcid.org/0000-0001-6666-5628"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Giorgia Coratti","raw_affiliation_strings":["Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048229746","display_name":"Beatrice Berti","orcid":"https://orcid.org/0000-0002-5698-9415","observed_orcids":["https://orcid.org/0000-0002-5698-9415"]},"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/I4210111425","display_name":"Centro Clinico Nemo","ror":"https://ror.org/01xht6a47","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210111425"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Beatrice Berti","raw_affiliation_strings":["Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210111425"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008489634","display_name":"Adele D\u2019Amico","orcid":"https://orcid.org/0000-0003-2438-2624","observed_orcids":["https://orcid.org/0000-0003-2438-2624"]},"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"]},{"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":true,"raw_author_name":"Adele D\u2019Amico","raw_affiliation_strings":["Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108123935","display_name":"Maria Sframeli","orcid":"https://orcid.org/0000-0002-7408-5989","observed_orcids":["https://orcid.org/0000-0002-7408-5989"]},"institutions":[{"id":"https://openalex.org/I112862951","display_name":"University of Messina","ror":"https://ror.org/05ctdxz19","country_code":"IT","type":"education","lineage":["https://openalex.org/I112862951"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Maria Sframeli","raw_affiliation_strings":["Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy","institution_ids":["https://openalex.org/I112862951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084310045","display_name":"Emilio Albamonte","orcid":"https://orcid.org/0000-0002-8465-4460","observed_orcids":["https://orcid.org/0000-0002-8465-4460"]},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I4210094195","display_name":"Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda","ror":"https://ror.org/00htrxv69","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210094195"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Emilio Albamonte","raw_affiliation_strings":["Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy","institution_ids":["https://openalex.org/I189158943","https://openalex.org/I4210094195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103897191","display_name":"Roberto De Sanctis","orcid":null,"observed_orcids":[]},"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/I4210111425","display_name":"Centro Clinico Nemo","ror":"https://ror.org/01xht6a47","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210111425"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Roberto de Sanctis","raw_affiliation_strings":["Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210111425"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039609345","display_name":"Sonia Messina","orcid":"https://orcid.org/0000-0001-7994-3391","observed_orcids":["https://orcid.org/0000-0001-7994-3391"]},"institutions":[{"id":"https://openalex.org/I112862951","display_name":"University of Messina","ror":"https://ror.org/05ctdxz19","country_code":"IT","type":"education","lineage":["https://openalex.org/I112862951"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Sonia Messina","raw_affiliation_strings":["Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, and Centro Clinico Nemo Sud, University of Messina, Messina, Italy","institution_ids":["https://openalex.org/I112862951"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088028838","display_name":"Michela Catteruccia","orcid":"https://orcid.org/0000-0003-0785-5004","observed_orcids":["https://orcid.org/0000-0003-0785-5004"]},"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"]},{"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":true,"raw_author_name":"Michela Catteruccia","raw_affiliation_strings":["Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044004429","display_name":"Giorgia Brigati","orcid":"https://orcid.org/0000-0002-8040-5950","observed_orcids":["https://orcid.org/0000-0002-8040-5950"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Giorgia Brigati","raw_affiliation_strings":["Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091829840","display_name":"Laura Antonaci","orcid":"https://orcid.org/0000-0003-4753-8441","observed_orcids":["https://orcid.org/0000-0003-4753-8441"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Laura Antonaci","raw_affiliation_strings":["Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0003-4753-8441","affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044897855","display_name":"Simona Lucibello","orcid":"https://orcid.org/0000-0003-0970-5755","observed_orcids":["https://orcid.org/0000-0003-0970-5755"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Simona Lucibello","raw_affiliation_strings":["Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103033200","display_name":"Claudio Bruno","orcid":"https://orcid.org/0000-0002-3426-2901","observed_orcids":["https://orcid.org/0000-0002-3426-2901"]},"institutions":[{"id":"https://openalex.org/I2801463291","display_name":"Istituto Giannina Gaslini","ror":"https://ror.org/0424g0k78","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2801463291","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Claudio Bruno","raw_affiliation_strings":["Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy","institution_ids":["https://openalex.org/I2801463291"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017152174","display_name":"Valeria Sansone","orcid":"https://orcid.org/0000-0002-1354-3800","observed_orcids":["https://orcid.org/0000-0002-1354-3800"]},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I4210094195","display_name":"Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda","ror":"https://ror.org/00htrxv69","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210094195"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Valeria A. Sansone","raw_affiliation_strings":["Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurorehabilitation Unit, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, University of Milan, Milan, Italy","institution_ids":["https://openalex.org/I189158943","https://openalex.org/I4210094195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059742070","display_name":"Enrico Bertini","orcid":"https://orcid.org/0000-0001-9276-4590","observed_orcids":["https://orcid.org/0000-0001-9276-4590"]},"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"]},{"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":true,"raw_author_name":"Enrico Bertini","raw_affiliation_strings":["Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082349643","display_name":"Francesco Danilo Tiziano","orcid":"https://orcid.org/0000-0002-5545-6158","observed_orcids":["https://orcid.org/0000-0002-5545-6158"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"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":true,"raw_author_name":"Danilo Tiziano","raw_affiliation_strings":["Institute of Genomic Medicine, Universit\u00e0 Cattolica del Sacro Cuore Fondazione, Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genomic Medicine, Universit\u00e0 Cattolica del Sacro Cuore Fondazione, Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I103320735","https://openalex.org/I2802557943","https://openalex.org/I4210153126"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054727366","display_name":"Marika Pane","orcid":"https://orcid.org/0000-0002-4851-6124","observed_orcids":["https://orcid.org/0000-0002-4851-6124"]},"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/I4210111425","display_name":"Centro Clinico Nemo","ror":"https://ror.org/01xht6a47","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210111425"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Marika Pane","raw_affiliation_strings":["Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210111425"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042269980","display_name":"Eugenio Maria Mercuri","orcid":"https://orcid.org/0000-0002-9851-5365","observed_orcids":["https://orcid.org/0000-0002-9851-5365","https://orcid.org/0000-0002-1005-3443"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"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/I4210111425","display_name":"Centro Clinico Nemo","ror":"https://ror.org/01xht6a47","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210111425"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Eugenio Mercuri","raw_affiliation_strings":["Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-9851-5365","affiliations":[{"raw_affiliation_string":"Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210111425"]},{"raw_affiliation_string":"Pediatric Neurology, Universit\u00e0 Cattolica del Sacro Cuore, Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5008489634","https://openalex.org/A5017152174","https://openalex.org/A5019618895","https://openalex.org/A5039609345","https://openalex.org/A5042269980","https://openalex.org/A5044004429","https://openalex.org/A5044897855","https://openalex.org/A5045556511","https://openalex.org/A5048229746","https://openalex.org/A5054727366","https://openalex.org/A5059742070","https://openalex.org/A5082349643","https://openalex.org/A5084310045","https://openalex.org/A5088028838","https://openalex.org/A5091829840","https://openalex.org/A5103033200","https://openalex.org/A5103897191","https://openalex.org/A5108123935"],"corresponding_institution_ids":["https://openalex.org/I103320735","https://openalex.org/I112862951","https://openalex.org/I189158943","https://openalex.org/I2801463291","https://openalex.org/I2802557943","https://openalex.org/I4210094195","https://openalex.org/I4210111425","https://openalex.org/I4210123352","https://openalex.org/I4210153126"],"apc_list":{"value":1695,"currency":"USD","value_usd":1695},"apc_paid":{"value":1695,"currency":"USD","value_usd":1695},"fwci":9.6627,"has_fulltext":true,"cited_by_count":77,"citation_normalized_percentile":{"value":0.98938155,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"15","issue":"3","first_page":"e0230677","last_page":"e0230677"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":1.0,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"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"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/spinal-muscular-atrophy","display_name":"spinal muscular atrophy","score":1.0},{"id":"https://openalex.org/keywords/delayed-diagnosis","display_name":"delayed diagnosis","score":0.7900000214576721},{"id":"https://openalex.org/keywords/age-at-diagnosis","display_name":"age at diagnosis","score":0.9580000042915344},{"id":"https://openalex.org/keywords/sma-type-i","display_name":"SMA type I","score":0.7639999985694885},{"id":"https://openalex.org/keywords/sma-type-ii","display_name":"SMA type 2","score":1.0},{"id":"https://openalex.org/keywords/sma-type-3","display_name":"SMA type 3","score":0.9990000128746033},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.5009999871253967},{"id":"https://openalex.org/keywords/presenting-symptoms","display_name":"presenting symptoms","score":0.35600000619888306}],"concepts":[{"id":"https://openalex.org/C2778558090","wikidata":"https://www.wikidata.org/wiki/Q580290","display_name":"Spinal muscular atrophy","level":3,"score":0.884040892124176},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8248690962791443},{"id":"https://openalex.org/C161921814","wikidata":"https://www.wikidata.org/wiki/Q493743","display_name":"SMA*","level":2,"score":0.7964843511581421},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5997525453567505},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5498993396759033},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.47622615098953247},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.4679509401321411},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.38886117935180664},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.35156625509262085},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.19526943564414978},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.07630577683448792},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009134","descriptor_name":"Muscular Atrophy, Spinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":8,"locations":[{"id":"doi:10.1371/journal.pone.0230677","doi":"https://doi.org/10.1371/journal.pone.0230677","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0230677","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0230677&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:6065252","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7089564","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:7089564","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7089564","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS One","raw_type":"Text"},{"id":"pmid:32203538","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32203538","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":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:air.unimi.it:2434/795245","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/2434/795245","pdf_url":"https://air.unimi.it/bitstream/2434/795245/2/journal.pone.0230677.pdf","source":{"id":"https://openalex.org/S4306400516","display_name":"Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I189158943","host_organization_name":"University of Milan","host_organization_lineage":["https://openalex.org/I189158943"],"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":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:a0122968cd594dc39b7ca7da5f8da3b2","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/a0122968cd594dc39b7ca7da5f8da3b2","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 15, Iss 3, p e0230677 (2020)","raw_type":"article"},{"id":"pmh:oai:publicatt.unicatt.it:10807/213600","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10807/213600","pdf_url":null,"source":{"id":"https://openalex.org/S4306400564","display_name":"PubliCatt (Universit\u00e0 Cattolica del Sacro Cuore)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:unige.iris.cineca.it:11567/1144964","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11567/1144964","pdf_url":null,"source":{"id":"https://openalex.org/S4377196291","display_name":"CINECA IRIS Institutial Research Information System (University of Genoa)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I83816512","host_organization_name":"University of Genoa","host_organization_lineage":["https://openalex.org/I83816512"],"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":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0230677","doi":"https://doi.org/10.1371/journal.pone.0230677","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0230677","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0230677&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3012809876.pdf","grobid_xml":"https://content.openalex.org/works/W3012809876.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W1971572027","https://openalex.org/W1973745643","https://openalex.org/W1980477780","https://openalex.org/W1980537418","https://openalex.org/W1992007549","https://openalex.org/W2000520189","https://openalex.org/W2005486481","https://openalex.org/W2007954199","https://openalex.org/W2008628221","https://openalex.org/W2014207512","https://openalex.org/W2029827355","https://openalex.org/W2046709420","https://openalex.org/W2048181785","https://openalex.org/W2067161603","https://openalex.org/W2075912104","https://openalex.org/W2076332614","https://openalex.org/W2079973734","https://openalex.org/W2098868710","https://openalex.org/W2103017827","https://openalex.org/W2125953041","https://openalex.org/W2143197369","https://openalex.org/W2168402647","https://openalex.org/W2755385721","https://openalex.org/W2762209671","https://openalex.org/W2765483614","https://openalex.org/W2769295220","https://openalex.org/W2770254801","https://openalex.org/W2789114047","https://openalex.org/W2972356268","https://openalex.org/W4242676040","https://openalex.org/W6643080532"],"related_works":["https://openalex.org/W4306723864","https://openalex.org/W4403139015","https://openalex.org/W2976036786","https://openalex.org/W2168402647","https://openalex.org/W3135541381","https://openalex.org/W4400571554","https://openalex.org/W4403137569","https://openalex.org/W3205628101","https://openalex.org/W6930423605","https://openalex.org/W4310796754"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1,19,108,128,154],"advent":[2],"of":[3,21,30,37,47,61,97,224,227],"new":[4,205],"therapies":[5,206],"has":[6],"increased":[7],"the":[8,22,28,33,42,45,105,203,225],"need":[9],"to":[10,26,103,215],"achieve":[11],"early":[12,228],"diagnosis":[13,31,60,94,132,161],"in":[14,32,68,74,101,138,144,151,166,172,179,199],"Spinal":[15],"Muscular":[16],"Atrophy":[17],"(SMA).":[18],"aim":[20],"present":[23],"study":[24],"was":[25,133,162],"define":[27],"age":[29,78,86,130],"three":[34],"main":[35],"types":[36],"SMA":[38,66,116],"with":[39,57],"pediatric-onset":[40],"and":[41,50,93,95,123,147,160,175],"timing":[43],"between":[44,90,157],"recognition":[46],"clinical":[48,91],"signs":[49],"confirmed":[51,59],"genetic":[52],"diagnosis.":[53,106],"METHODS:":[54],"All":[55],"patients":[56],"a":[58,194],"type":[62,96,117,121,126,139,145,152,167,173,180,200],"I,":[63,118,140,168],"II,":[64,146],"III":[65],"followed":[67],"5":[69],"Italian":[70],"centers":[71],"were":[72],"included":[73,110],"this":[75],"study,":[76],"assessing":[77],"at":[79,87,131],"symptoms":[80],"onset,":[81],"presenting":[82],"sign":[83],"or":[84],"symptom,":[85],"diagnosis,":[88],"interval":[89],"onset":[92,159],"medical":[98],"investigations":[99],"conducted":[100],"order":[102],"obtain":[104],"RESULTS:":[107],"cohort":[109],"480":[111],"patients,":[112],"191":[113],"affected":[114],"by":[115,120,125],"210":[119],"II":[122,174],"79":[124],"III.":[127,153,181,201],"mean":[129,155],"4.70":[134],"months":[135,142,164,170,177],"(SD":[136],"\u00b12.82)":[137],"15.6":[141],"(SD\u00b15.88)":[143],"4.34":[148],"years":[149],"(SD\u00b14.01)":[150],"time":[156,204],"symptom":[158],"1.94":[163],"(SD\u00b11.84)":[165],"5.28":[169],"(SD\u00b14.68)":[171],"16.8":[176],"(SD\u00b118.72)":[178],"CONCLUSIONS:":[182],"Our":[183],"results":[184],"suggest":[185],"that":[186],"despite":[187],"improved":[188],"care":[189],"recommendations":[190],"there":[191,220],"is":[192,221],"still":[193],"marked":[195],"diagnostic":[196],"delay,":[197],"especially":[198],"At":[202],"are":[207],"becoming":[208],"available":[209],"more":[210],"attention":[211],"should":[212],"be":[213],"devoted":[214],"reducing":[216],"such":[217],"delay":[218],"as":[219],"consistent":[222],"evidence":[223],"benefit":[226],"treatment.":[229]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":10},{"year":2024,"cited_by_count":14},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":14},{"year":2021,"cited_by_count":18},{"year":2020,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2020-03-27T00:00:00"}
