{"id":"https://openalex.org/W3206468497","doi":"https://doi.org/10.1016/j.nmd.2021.07.295","title":"SMA - TREATMENT","display_name":"SMA - TREATMENT","publication_year":2021,"publication_date":"2021-09-18","ids":{"openalex":"https://openalex.org/W3206468497","doi":"https://doi.org/10.1016/j.nmd.2021.07.295","mag":"3206468497"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2021.07.295","doi":"https://doi.org/10.1016/j.nmd.2021.07.295","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2021.07.295","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://infoscience.epfl.ch/record/289232","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"S. Owen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802478169","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital","ror":"https://ror.org/030mbcp39","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802478169","https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I4210155739","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust","ror":"https://ror.org/049zedh07","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I56007636","display_name":"Keele University","ror":"https://ror.org/00340yn33","country_code":"GB","type":"education","lineage":["https://openalex.org/I56007636"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. Owen","raw_affiliation_strings":["Keele University & RJAH, Oswestry, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Keele University & RJAH, Oswestry, UK","institution_ids":["https://openalex.org/I2802478169","https://openalex.org/I4210155739","https://openalex.org/I56007636"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011126341","display_name":"Darija \u0160olti\u0107","orcid":"https://orcid.org/0009-0000-3151-6016","observed_orcids":["https://orcid.org/0009-0000-3151-6016"]},"institutions":[{"id":"https://openalex.org/I2802478169","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital","ror":"https://ror.org/030mbcp39","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802478169","https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I4210155739","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust","ror":"https://ror.org/049zedh07","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I56007636","display_name":"Keele University","ror":"https://ror.org/00340yn33","country_code":"GB","type":"education","lineage":["https://openalex.org/I56007636"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D. \u0160olti\u0107","raw_affiliation_strings":["Keele University & RJAH, Oswestry, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Keele University & RJAH, Oswestry, UK","institution_ids":["https://openalex.org/I2802478169","https://openalex.org/I4210155739","https://openalex.org/I56007636"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084689238","display_name":"Silvia A. Synowsky","orcid":"https://orcid.org/0000-0002-7683-8710","observed_orcids":["https://orcid.org/0000-0002-7683-8710"]},"institutions":[{"id":"https://openalex.org/I16835326","display_name":"University of St Andrews","ror":"https://ror.org/02wn5qz54","country_code":"GB","type":"education","lineage":["https://openalex.org/I16835326"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. Synowsky","raw_affiliation_strings":["University of St Andrews, St Andrews, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of St Andrews, St Andrews, UK","institution_ids":["https://openalex.org/I16835326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066053451","display_name":"E. Crompton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I184558857","display_name":"Royal Holloway University of London","ror":"https://ror.org/04g2vpn86","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I184558857"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"E. Crompton","raw_affiliation_strings":["Royal Holloway University of London, Egham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Royal Holloway University of London, Egham, UK","institution_ids":["https://openalex.org/I184558857"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041440680","display_name":"Rafael J. Y\u00e1\u00f1ez\u2010Mu\u00f1oz","orcid":"https://orcid.org/0000-0001-7113-1938","observed_orcids":["https://orcid.org/0000-0001-7113-1938"]},"institutions":[{"id":"https://openalex.org/I184558857","display_name":"Royal Holloway University of London","ror":"https://ror.org/04g2vpn86","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I184558857"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R. Y\u00e1\u00f1ez-Mu\u00f1oz","raw_affiliation_strings":["Royal Holloway University of London, Egham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Royal Holloway University of London, Egham, UK","institution_ids":["https://openalex.org/I184558857"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000792302","display_name":"Bernard Laurent Schneider","orcid":"https://orcid.org/0000-0001-5485-8748","observed_orcids":["https://orcid.org/0000-0001-5485-8748"]},"institutions":[{"id":"https://openalex.org/I5124864","display_name":"\u00c9cole Polytechnique F\u00e9d\u00e9rale de Lausanne","ror":"https://ror.org/02s376052","country_code":"CH","type":"education","lineage":["https://openalex.org/I2799323385","https://openalex.org/I5124864"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"B. Schneider","raw_affiliation_strings":["Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne, Lausanne, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne, Lausanne, Switzerland","institution_ids":["https://openalex.org/I5124864"]}]},{"author_position":"middle","author":{"id":null,"display_name":"H. Shorrock","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"H. Shorrock","raw_affiliation_strings":["University of Edinburgh, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Edinburgh, Edinburgh, UK","institution_ids":["https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022976226","display_name":"Sally L. Shirran","orcid":"https://orcid.org/0000-0003-3516-3507","observed_orcids":["https://orcid.org/0000-0003-3516-3507"]},"institutions":[{"id":"https://openalex.org/I16835326","display_name":"University of St Andrews","ror":"https://ror.org/02wn5qz54","country_code":"GB","type":"education","lineage":["https://openalex.org/I16835326"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S. Shirran","raw_affiliation_strings":["University of St Andrews, St Andrews, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of St Andrews, St Andrews, UK","institution_ids":["https://openalex.org/I16835326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042253588","display_name":"Thomas Henry Gillingwater","orcid":"https://orcid.org/0000-0002-0306-5577","observed_orcids":["https://orcid.org/0000-0002-0306-5577"]},"institutions":[{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"T. Gillingwater","raw_affiliation_strings":["University of Edinburgh, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Edinburgh, Edinburgh, UK","institution_ids":["https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042843681","display_name":"M\u00e9lissa Bowerman","orcid":"https://orcid.org/0000-0002-3579-6403","observed_orcids":["https://orcid.org/0000-0002-3579-6403"]},"institutions":[{"id":"https://openalex.org/I4210155739","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust","ror":"https://ror.org/049zedh07","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I56007636","display_name":"Keele University","ror":"https://ror.org/00340yn33","country_code":"GB","type":"education","lineage":["https://openalex.org/I56007636"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. Bowerman","raw_affiliation_strings":["Keele University & RJAH, Keele, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Keele University & RJAH, Keele, UK","institution_ids":["https://openalex.org/I4210155739","https://openalex.org/I56007636"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091710213","display_name":"H. Fuller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802478169","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital","ror":"https://ror.org/030mbcp39","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802478169","https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I4210155739","display_name":"Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust","ror":"https://ror.org/049zedh07","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210155739"]},{"id":"https://openalex.org/I56007636","display_name":"Keele University","ror":"https://ror.org/00340yn33","country_code":"GB","type":"education","lineage":["https://openalex.org/I56007636"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"H. Fuller","raw_affiliation_strings":["Keele University & RJAH, Oswestry, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Keele University & RJAH, Oswestry, UK","institution_ids":["https://openalex.org/I2802478169","https://openalex.org/I4210155739","https://openalex.org/I56007636"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3100,"currency":"USD","value_usd":3100},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.1663008,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"31","issue":null,"first_page":"S131","last_page":"S132"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.0013000000035390258,"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/cardiac-pathology","display_name":"cardiac pathology","score":0.9139999747276306},{"id":"https://openalex.org/keywords/heart-proteome","display_name":"heart proteome","score":0.9700000286102295},{"id":"https://openalex.org/keywords/smn2","display_name":"SMN2","score":0.4189999997615814},{"id":"https://openalex.org/keywords/cardiac-defects","display_name":"cardiac defects","score":0.4129999876022339},{"id":"https://openalex.org/keywords/itraq-proteomics","display_name":"iTRAQ quantitative proteomics","score":0.6779999732971191}],"concepts":[{"id":"https://openalex.org/C161921814","wikidata":"https://www.wikidata.org/wiki/Q493743","display_name":"SMA*","level":2,"score":0.6831662654876709},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4337156116962433},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2145228087902069},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.038154274225234985}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.nmd.2021.07.295","doi":"https://doi.org/10.1016/j.nmd.2021.07.295","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2021.07.295","pdf_url":null,"source":{"id":"https://openalex.org/S50004817","display_name":"Neuromuscular Disorders","issn_l":"0960-8966","issn":["0960-8966","1873-2364"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuromuscular Disorders","raw_type":"journal-article"},{"id":"pmh:oai:infoscience.epfl.ch:289232","doi":null,"is_oa":true,"landing_page_url":"http://infoscience.epfl.ch/record/289232","pdf_url":null,"source":{"id":"https://openalex.org/S4306400487","display_name":"Infoscience (Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5124864","host_organization_name":"\u00c9cole Polytechnique F\u00e9d\u00e9rale de Lausanne","host_organization_lineage":["https://openalex.org/I5124864"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"WoS","raw_type":"conference proceedings"}],"best_oa_location":{"id":"pmh:oai:infoscience.epfl.ch:289232","doi":null,"is_oa":true,"landing_page_url":"http://infoscience.epfl.ch/record/289232","pdf_url":null,"source":{"id":"https://openalex.org/S4306400487","display_name":"Infoscience (Ecole Polytechnique F\u00e9d\u00e9rale de Lausanne)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I5124864","host_organization_name":"\u00c9cole Polytechnique F\u00e9d\u00e9rale de Lausanne","host_organization_lineage":["https://openalex.org/I5124864"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"WoS","raw_type":"conference proceedings"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4385294454","https://openalex.org/W2968699356","https://openalex.org/W2975703177","https://openalex.org/W6902700768","https://openalex.org/W2794189329","https://openalex.org/W843191777","https://openalex.org/W3099575692","https://openalex.org/W7147372809","https://openalex.org/W4409851348","https://openalex.org/W6921341064"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2021-10-25T00:00:00"}
