{"id":"https://openalex.org/W2033076777","doi":"https://doi.org/10.1016/j.parkreldis.2014.12.024","title":"Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia","display_name":"Clinical presentation of a patient with SLC20A2 and THAP1 deletions: Differential diagnosis of oromandibular dystonia","publication_year":2015,"publication_date":"2015-01-07","ids":{"openalex":"https://openalex.org/W2033076777","doi":"https://doi.org/10.1016/j.parkreldis.2014.12.024","mag":"2033076777","pmid":"https://pubmed.ncbi.nlm.nih.gov/25609077","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4408548"},"language":"en","primary_location":{"id":"doi:10.1016/j.parkreldis.2014.12.024","doi":"https://doi.org/10.1016/j.parkreldis.2014.12.024","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.parkreldis.2014.12.024","pdf_url":null,"source":{"id":"https://openalex.org/S147691530","display_name":"Parkinsonism & Related Disorders","issn_l":"1353-8020","issn":["1353-8020","1873-5126"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Parkinsonism &amp; Related Disorders","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4408548","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000988128","display_name":"Shinsuke Fujioka","orcid":"https://orcid.org/0000-0001-9901-9008","observed_orcids":["https://orcid.org/0000-0001-9901-9008"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I31784960","display_name":"Fukuoka University","ror":"https://ror.org/04nt8b154","country_code":"JP","type":"education","lineage":["https://openalex.org/I31784960"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["JP","US"],"is_corresponding":false,"raw_author_name":"Shinsuke Fujioka","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan","Department of Neurology, Fukuoka University, Fukuoka, Japan","Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA; Department of Neurology, Fukuoka University, Fukuoka, Japan","institution_ids":["https://openalex.org/I31784960","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Department of Neurology, Fukuoka University, Fukuoka, Japan","institution_ids":["https://openalex.org/I31784960"]},{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072840872","display_name":"Audrey J. Strongosky","orcid":"https://orcid.org/0000-0003-4734-0339","observed_orcids":["https://orcid.org/0000-0003-4734-0339"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Audrey J. Strongosky","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026428280","display_name":"Anhar Hassan","orcid":"https://orcid.org/0000-0002-8351-2751","observed_orcids":["https://orcid.org/0000-0002-8351-2751"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anhar Hassan","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048408999","display_name":"Rosa Rademakers","orcid":"https://orcid.org/0000-0002-4049-0863","observed_orcids":["https://orcid.org/0000-0002-4049-0863"]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rosa Rademakers","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009533777","display_name":"Dennis W. Dickson","orcid":"https://orcid.org/0000-0001-7189-7917","observed_orcids":["https://orcid.org/0000-0001-7189-7917"]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dennis W. Dickson","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5022481370","display_name":"Zbigniew K. Wszo\u0142ek","orcid":"https://orcid.org/0000-0001-5487-1053","observed_orcids":["https://orcid.org/0000-0001-5487-1053"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Zbigniew K. Wszolek","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA. Electronic address: Wszolek.zbigniew@mayo.edu","Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA. Electronic address: Wszolek.zbigniew@mayo.edu","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5022481370"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"],"apc_list":{"value":3460,"currency":"USD","value_usd":3460},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.06690178,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"21","issue":"3","first_page":"329","last_page":"331"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.7865999937057495,"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"}},"topics":[{"id":"https://openalex.org/T13481","display_name":"Neurological diseases and metabolism","score":0.7865999937057495,"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"}},{"id":"https://openalex.org/T10919","display_name":"Neurological disorders and treatments","score":0.09889999777078629,"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"}},{"id":"https://openalex.org/T13966","display_name":"Neurological and metabolic disorders","score":0.09229999780654907,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/oromandibular-dystonia","display_name":"oromandibular dystonia","score":0.984000027179718}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.6729480028152466},{"id":"https://openalex.org/C2780545995","wikidata":"https://www.wikidata.org/wiki/Q18030421","display_name":"PDGFB","level":5,"score":0.5628477334976196},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5497973561286926},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.49633699655532837},{"id":"https://openalex.org/C2778261627","wikidata":"https://www.wikidata.org/wiki/Q2608695","display_name":"Movement disorders","level":3,"score":0.4922570288181305},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27917957305908203},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.18759939074516296},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.17345821857452393},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16667139530181885},{"id":"https://openalex.org/C180361614","wikidata":"https://www.wikidata.org/wiki/Q7202242","display_name":"Platelet-derived growth factor receptor","level":4,"score":0.0},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C2775960820","wikidata":"https://www.wikidata.org/wiki/Q408378","display_name":"Growth factor","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008334","descriptor_name":"Mandible","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014059","descriptor_name":"Tongue","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050611","descriptor_name":"Sodium-Phosphate Cotransporter Proteins, Type III","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D051017","descriptor_name":"Apoptosis Regulatory Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.parkreldis.2014.12.024","doi":"https://doi.org/10.1016/j.parkreldis.2014.12.024","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.parkreldis.2014.12.024","pdf_url":null,"source":{"id":"https://openalex.org/S147691530","display_name":"Parkinsonism & Related Disorders","issn_l":"1353-8020","issn":["1353-8020","1873-5126"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Parkinsonism &amp; Related Disorders","raw_type":"journal-article"},{"id":"pmid:25609077","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25609077","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":"Parkinsonism & related disorders","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:4408548","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4408548","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Parkinsonism Relat Disord","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:4408548","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4408548","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Parkinsonism Relat Disord","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"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/G3483743189","display_name":null,"funder_award_id":"NIH/NINDS P50 NS072187","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G4033720201","display_name":"Einstein Aging Study","funder_award_id":"P01AG003949","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5271352340","display_name":null,"funder_award_id":"NIHP50 AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7774046770","display_name":"Genetics and Molecular Biology of Parkinsonism","funder_award_id":"P50NS072187","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G95754455","display_name":"Mayo Alzheimer's Disease Research Center","funder_award_id":"P50AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":6,"referenced_works":["https://openalex.org/W1996770886","https://openalex.org/W2031821093","https://openalex.org/W2069415172","https://openalex.org/W2108021439","https://openalex.org/W2151492782","https://openalex.org/W4233452102"],"related_works":["https://openalex.org/W1996770886","https://openalex.org/W2335925635","https://openalex.org/W4221038797","https://openalex.org/W1964424344","https://openalex.org/W7124755815","https://openalex.org/W1924897230","https://openalex.org/W3176454250","https://openalex.org/W2960370699","https://openalex.org/W2086983329","https://openalex.org/W3204449850"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2019,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
