{"id":"https://openalex.org/W7166359180","doi":"https://doi.org/10.1016/j.nmd.2026.106486","title":"Muscle MRI in a patient with chorea acanthocytosis","display_name":"Muscle MRI in a patient with chorea acanthocytosis","publication_year":2026,"publication_date":"2026-06-27","ids":{"openalex":"https://openalex.org/W7166359180","doi":"https://doi.org/10.1016/j.nmd.2026.106486","pmid":"https://pubmed.ncbi.nlm.nih.gov/42456477"},"language":"en","primary_location":{"id":"doi:10.1016/j.nmd.2026.106486","doi":"https://doi.org/10.1016/j.nmd.2026.106486","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2026.106486","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","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014753060","display_name":"Daniele Orsucci","orcid":"https://orcid.org/0000-0003-4847-7812","observed_orcids":["https://orcid.org/0000-0003-4847-7812"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Daniele Orsucci","raw_affiliation_strings":["Unit of Neurology, San Luca Hospital, Lucca, Italy. Electronic address: daniele.orsucci@uslnordovest.toscana.it"],"raw_orcid":"https://orcid.org/0000-0003-4847-7812","affiliations":[{"raw_affiliation_string":"Unit of Neurology, San Luca Hospital, Lucca, Italy. Electronic address: daniele.orsucci@uslnordovest.toscana.it","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044365917","display_name":"Marco Vista","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marco Vista","raw_affiliation_strings":["Unit of Neurology, San Luca Hospital, Lucca, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Neurology, San Luca Hospital, Lucca, Italy","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110578818","display_name":"Gianluca Moscato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210149390","display_name":"Ospedale di Livorno","ror":"https://ror.org/04yrw5x43","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210149390"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Gianluca Moscato","raw_affiliation_strings":["Unity of Neurology, Ospedali Riuniti di Livorno, Livorno, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unity of Neurology, Ospedali Riuniti di Livorno, Livorno, Italy","institution_ids":["https://openalex.org/I4210149390"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003408463","display_name":"Alessandra Tessa","orcid":"https://orcid.org/0000-0002-1445-6434","observed_orcids":["https://orcid.org/0000-0002-1445-6434"]},"institutions":[{"id":"https://openalex.org/I4210126460","display_name":"Fondazione Stella Maris","ror":"https://ror.org/02w8ez808","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126460","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Alessandra Tessa","raw_affiliation_strings":["Molecular Medicine for Neurodegenerative and Neuromuscular Diseases, IRCCS Fondazione Stella Maris, Pisa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases, IRCCS Fondazione Stella Maris, Pisa, Italy","institution_ids":["https://openalex.org/I4210126460"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068237948","display_name":"Filippo Maria Santorelli","orcid":"https://orcid.org/0000-0002-1359-9062","observed_orcids":["https://orcid.org/0000-0002-1359-9062"]},"institutions":[{"id":"https://openalex.org/I4210126460","display_name":"Fondazione Stella Maris","ror":"https://ror.org/02w8ez808","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210126460","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Filippo Maria Santorelli","raw_affiliation_strings":["Molecular Medicine for Neurodegenerative and Neuromuscular Diseases, IRCCS Fondazione Stella Maris, Pisa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Medicine for Neurodegenerative and Neuromuscular Diseases, IRCCS Fondazione Stella Maris, Pisa, Italy","institution_ids":["https://openalex.org/I4210126460"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000056014","display_name":"Martina Giuntini","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Martina Giuntini","raw_affiliation_strings":["Unit of Neurology, San Luca Hospital, Lucca, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Neurology, San Luca Hospital, Lucca, Italy","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5014753060"],"corresponding_institution_ids":[],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.42795817,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"66","issue":null,"first_page":"106486","last_page":"106486"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.8906000256538391,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.8906000256538391,"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/T13966","display_name":"Neurological and metabolic disorders","score":0.06669999659061432,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.01759999990463257,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/chorea-acanthocytosis","display_name":"chorea-acanthocytosis","score":0.9409999847412109},{"id":"https://openalex.org/keywords/vps13a","display_name":"VPS13A","score":0.8790000081062317},{"id":"https://openalex.org/keywords/chorein","display_name":"chorein","score":0.9909999966621399},{"id":"https://openalex.org/keywords/myopathy","display_name":"myopathy","score":0.9620000123977661},{"id":"https://openalex.org/keywords/biallelic-pathogenic-variants","display_name":"biallelic pathogenic variants","score":0.8500000238418579}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7781000137329102},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6944000124931335},{"id":"https://openalex.org/C2778868616","wikidata":"https://www.wikidata.org/wiki/Q1076421","display_name":"Chorea","level":3,"score":0.614300012588501},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.5752999782562256},{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.461899995803833},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.4325999915599823},{"id":"https://openalex.org/C2992644362","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Muscle disease","level":3,"score":0.388700008392334},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.2809999883174896},{"id":"https://openalex.org/C2909765735","wikidata":"https://www.wikidata.org/wiki/Q4116663","display_name":"Muscle disorder","level":2,"score":0.27230000495910645},{"id":"https://openalex.org/C2992477034","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Clinical neurology","level":2,"score":0.23250000178813934}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.nmd.2026.106486","doi":"https://doi.org/10.1016/j.nmd.2026.106486","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nmd.2026.106486","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":"pmid:42456477","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42456477","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":"Neuromuscular disorders : NMD","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4477745340","display_name":null,"funder_award_id":"RC2025\u20102026","funder_id":"https://openalex.org/F4320321781","funder_display_name":"Ministero della Salute"}],"funders":[{"id":"https://openalex.org/F4320321781","display_name":"Ministero della Salute","ror":"https://ror.org/00789fa95"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W2016013502","https://openalex.org/W2091160315","https://openalex.org/W3135519073","https://openalex.org/W4414710316"],"related_works":["https://openalex.org/W2016013502","https://openalex.org/W2093072122","https://openalex.org/W1972406416","https://openalex.org/W140258756","https://openalex.org/W2185785109","https://openalex.org/W2219137035","https://openalex.org/W795966977","https://openalex.org/W2375262054","https://openalex.org/W2097387946","https://openalex.org/W7164128515"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-26T11:51:55.731654","created_date":"2026-06-28T00:00:00"}