{"id":"https://openalex.org/W2031853258","doi":"https://doi.org/10.1590/s0004-282x2009000400021","title":"Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion","display_name":"Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion","publication_year":2009,"publication_date":"2009-08-27","ids":{"openalex":"https://openalex.org/W2031853258","doi":"https://doi.org/10.1590/s0004-282x2009000400021","mag":"2031853258","pmid":"https://pubmed.ncbi.nlm.nih.gov/19722050"},"language":"en","primary_location":{"id":"doi:10.1590/s0004-282x2009000400021","doi":"https://doi.org/10.1590/s0004-282x2009000400021","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2009000400021","pdf_url":"https://www.scielo.br/j/anp/a/KB7jvKqqpSMXqnWSWMT4YJk/?lang=en&format=pdf","source":{"id":"https://openalex.org/S166523383","display_name":"Arquivos de Neuro-Psiquiatria","issn_l":"0004-282X","issn":["0004-282X","1678-4227"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-40","russia-white-list-2","scielo"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos de Neuro-Psiquiatria","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://www.scielo.br/j/anp/a/KB7jvKqqpSMXqnWSWMT4YJk/?lang=en&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014140766","display_name":"Carla Graziadio","orcid":"https://orcid.org/0000-0001-6569-5278","observed_orcids":["https://orcid.org/0000-0001-6569-5278"]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Carla Graziadio","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056742220","display_name":"Rafael Fabiano Machado Rosa","orcid":"https://orcid.org/0000-0003-1317-642X","observed_orcids":["https://orcid.org/0000-0003-1317-642X"]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Rafael Fabiano Machado Rosa","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063929685","display_name":"Paulo Ricardo Gazzola Zen","orcid":"https://orcid.org/0000-0002-7628-4877","observed_orcids":["https://orcid.org/0000-0002-7628-4877"]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Paulo Ricardo Gazzola Zen","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102925579","display_name":"Louise Lapagesse de Camargo Pinto","orcid":"https://orcid.org/0000-0001-7232-9882","observed_orcids":["https://orcid.org/0000-0001-7232-9882"]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Louise Lapagesse de Camargo Pinto","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005224045","display_name":"Liselotte Menke Barea","orcid":"https://orcid.org/0000-0002-9531-9115","observed_orcids":["https://orcid.org/0000-0002-9531-9115"]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Liselotte Menke Barea","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065494759","display_name":"Giorgio Adriano Paskulin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I134363262","display_name":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","ror":"https://ror.org/00x0nkm13","country_code":"BR","type":"education","lineage":["https://openalex.org/I134363262"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Giorgio Adriano Paskulin","raw_affiliation_strings":["Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre","institution_ids":["https://openalex.org/I134363262"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I134363262"],"apc_list":{"value":200,"currency":"USD","value_usd":200},"apc_paid":{"value":200,"currency":"USD","value_usd":200},"fwci":0.4162,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.64044971,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"67","issue":"3a","first_page":"689","last_page":"691"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.95169997215271,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.95169997215271,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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":0.02250000089406967,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/T13481","display_name":"Neurological diseases and metabolism","score":0.003100000089034438,"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/dystonia","display_name":"dystonia","score":0.8320000171661377},{"id":"https://openalex.org/keywords/chromosome-18p","display_name":"chromosome 18p","score":0.7020000219345093},{"id":"https://openalex.org/keywords/autoimmune-disease","display_name":"autoimmune disease","score":0.6759999990463257},{"id":"https://openalex.org/keywords/hashimoto-s-thyroiditis","display_name":"Hashimoto's thyroiditis","score":0.8569999933242798},{"id":"https://openalex.org/keywords/vitiligo","display_name":"vitiligo","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cerebral-white-matter-abnormalities","display_name":"cerebral white matter abnormalities","score":0.9710000157356262},{"id":"https://openalex.org/keywords/focal-dystonia","display_name":"focal dystonia","score":0.8420000076293945},{"id":"https://openalex.org/keywords/blepharospasm","display_name":"blepharospasm","score":0.9750000238418579},{"id":"https://openalex.org/keywords/cervical-dystonia","display_name":"cervical dystonia","score":0.9670000076293945},{"id":"https://openalex.org/keywords/hypothyroidism","display_name":"hypothyroidism","score":0.8130000233650208},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.5379999876022339},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.5299999713897705},{"id":"https://openalex.org/keywords/autoimmune-encephalitis","display_name":"autoimmune encephalitis","score":0.42800000309944153},{"id":"https://openalex.org/keywords/autoimmune-neuropsychiatric-disorders","display_name":"autoimmune neuropsychiatric disorders","score":0.41200000047683716}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.7821817398071289},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6946836709976196},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5761556625366211},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.5355626940727234},{"id":"https://openalex.org/C2778817116","wikidata":"https://www.wikidata.org/wiki/Q883863","display_name":"Blepharospasm","level":3,"score":0.48828625679016113},{"id":"https://openalex.org/C2779494072","wikidata":"https://www.wikidata.org/wiki/Q1428695","display_name":"Focal dystonia","level":3,"score":0.4724350869655609},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.36597609519958496},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.20722663402557373},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.11318027973175049}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014820","descriptor_name":"Vitiligo","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014820","descriptor_name":"Vitiligo","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050031","descriptor_name":"Hashimoto Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D050031","descriptor_name":"Hashimoto Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1590/s0004-282x2009000400021","doi":"https://doi.org/10.1590/s0004-282x2009000400021","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2009000400021","pdf_url":"https://www.scielo.br/j/anp/a/KB7jvKqqpSMXqnWSWMT4YJk/?lang=en&format=pdf","source":{"id":"https://openalex.org/S166523383","display_name":"Arquivos de Neuro-Psiquiatria","issn_l":"0004-282X","issn":["0004-282X","1678-4227"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-40","russia-white-list-2","scielo"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos de Neuro-Psiquiatria","raw_type":"journal-article"},{"id":"pmid:19722050","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19722050","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":"Arquivos de neuro-psiquiatria","raw_type":"Case Reports"},{"id":"pmh:oai:scielo:S0004-282X2009000400021","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&amp;pid=S0004-282X2009000400021","pdf_url":null,"source":{"id":"https://openalex.org/S4306402641","display_name":"LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Cient\u00edficas)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4383465926","host_organization_name":"LA Referencia","host_organization_lineage":["https://openalex.org/I4383465926"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos de Neuro-Psiquiatria v.67 n.3a 2009","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2659941","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2659941","pdf_url":null,"source":{"id":"https://openalex.org/S4306400786","display_name":"Americanae (AECID Library)","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":"Arquivos de Neuro-Psiquiatria v.67 n.3a 2009","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:852febb0a20c486aadb1d296c3b2d351","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/852febb0a20c486aadb1d296c3b2d351","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":"Arquivos de Neuro-Psiquiatria, Vol 67, Iss 3a, Pp 689-691 (2009)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1590/s0004-282x2009000400021","doi":"https://doi.org/10.1590/s0004-282x2009000400021","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2009000400021","pdf_url":"https://www.scielo.br/j/anp/a/KB7jvKqqpSMXqnWSWMT4YJk/?lang=en&format=pdf","source":{"id":"https://openalex.org/S166523383","display_name":"Arquivos de Neuro-Psiquiatria","issn_l":"0004-282X","issn":["0004-282X","1678-4227"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-40","russia-white-list-2","scielo"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Arquivos de Neuro-Psiquiatria","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":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2031853258.pdf","grobid_xml":"https://content.openalex.org/works/W2031853258.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1985281564","https://openalex.org/W1988032754","https://openalex.org/W1991829264","https://openalex.org/W2017166396","https://openalex.org/W2038588513","https://openalex.org/W2038695362","https://openalex.org/W2074669052","https://openalex.org/W2117851287","https://openalex.org/W2140703801","https://openalex.org/W4233046460","https://openalex.org/W6677207208"],"related_works":["https://openalex.org/W2943915472","https://openalex.org/W2177137696","https://openalex.org/W1972524586","https://openalex.org/W2038798706","https://openalex.org/W7008147054","https://openalex.org/W2004886616","https://openalex.org/W2081399617","https://openalex.org/W2034296188","https://openalex.org/W2475287392","https://openalex.org/W1995425100"],"abstract_inverted_index":{"Dystonia":[0],"is":[1,140,171],"a":[2,147,151,172,182,200,204,238,283,453,474,524,568],"clinically":[3],"and":[4,13,17,43,82,128,163,222,260,304,308,398,406,412,422,429,431,443,445,461,465,487,500,505,534,556,580],"genetically":[5],"heterogeneous":[6],"disorder":[7],"of":[8,25,36,41,71,98,112,133,137,150,181,188,212,218,268,302,335,361,385,389,434,470,481,497,509,543,574,584],"movement":[9],"characterized":[10],"by":[11],"involuntary":[12],"sustained":[14],"muscle":[15],"contractions":[16],"rigid":[18],"postures":[19],"affecting":[20,68],"one":[21],"or":[22,118],"more":[23],"sites":[24],"the":[26,34,72,76,90,95,113,178,192,249,266,300,329,333,344,352,366,377,386,390,439,459,471,479,490,502,530,541,553,557,571,585],"body.":[27],"It":[28],"can":[29],"be":[30],"classified":[31],"according":[32],"to":[33,48,245,275,325,458],"distribution":[35],"affected":[37],"body":[38,119,440,527],"parts,":[39],"age":[40,267,301,334],"onset":[42],"etiology":[44,139],"1":[45],".":[46,63,102,144],"Up":[47],"now,":[49],"at":[50,257,265,299,306,309,332,485,529],"least":[51],"15":[52],"different":[53,435],"loci":[54],"(DYT1\u2013DYT15)":[55],"have":[56,105],"been":[57,87,106],"described":[58],"in":[59,94,191,452,489,526,552],"this":[60],"condition":[61],"1,2":[62],"Adult-onset":[64],"idiopathic":[65],"torsion":[66],"dystonia":[67],"specific":[69],"parts":[70],"body,":[73],"such":[74],"as":[75,224,226],"eye":[77,555],"(blepharospasm),":[78],"neck":[79],"(cervical":[80],"dystonia),":[81],"hand":[83],"(writer\u2019s":[84],"cramp)":[85],"has":[86],"associated":[88,109,125],"with":[89,110,126,153,199,290,293,314,424,478,523,548],"DYT7":[91],"locus,":[92],"located":[93],"short":[96,347,397,572],"arm":[97,573],"chromosome":[99,575],"18":[100],"1-3":[101],"Autoimmune":[103],"diseases":[104],"considered":[107],"conditions":[108],"reactions":[111],"immune":[114],"system":[115],"against":[116],"selfantigens":[117],"systems.":[120],"They":[121],"are":[122],"disorders":[123],"often":[124],"severe":[127],"chronic":[129],"morbidity.":[130],"In":[131,243],"spite":[132],"recent":[134],"advances,":[135],"much":[136],"their":[138],"still":[141],"unknown":[142],"4":[143],"We":[145],"describe":[146],"rare":[148],"case":[149],"patient":[152,170,195,271],"18p":[154],"deletion":[155,569],"syndrome":[156],"presenting":[157],"focal":[158],"dystonia,":[159],"Hashimoto":[160,326],"thyroiditis,":[161],"vitiligo":[162,446],"cerebral":[164],"white":[165,176],"matter":[166],"abnormalities.":[167],"CaSe":[168],"The":[169,194,270,317,449,518,582],"30":[173],"year":[174,211],"old":[175],"woman,":[177],"fourth":[179],"child":[180],"non-consanguineous":[183],"couple,":[184],"without":[185,206,286,357,493],"any":[186],"history":[187],"similar":[189],"cases":[190],"family.":[193],"was":[196,231,272,447,516,587],"born":[197],"full-term,":[198],"Cesarean":[201],"section,":[202],"after":[203],"pregnancy":[205],"intercurrences.":[207],"During":[208,328],"her":[209,246,254,262],"first":[210,263],"life,":[213],"she":[214,236,252,288,312,337],"had":[215,237,416],"several":[216,280],"episodes":[217],"infection":[219],"(oti":[220],"tis":[221],"tonsillitis)":[223],"well":[225],"constipation":[227],"where":[228],"laxative":[229],"use":[230],"needed.":[232],"At":[233],"3":[234,353],"months,":[235],"convulsive":[239],"crisis":[240],"during":[241],"fever.":[242],"relation":[244],"neuropsychomotor":[247],"development,":[248],"mother":[250],"recalls":[251],"supported":[253],"own":[255],"head":[256],"6":[258],"months":[259],"pronounced":[261],"words":[264],"three.":[269],"also":[273,415],"unable":[274],"accompany":[276],"normal":[277],"school,":[278],"failing":[279],"grades.":[281],"After":[282],"long":[284],"period":[285],"intercurrences,":[287],"began":[289,313],"blepharospasm":[291],"together":[292],"cervical":[294,408],"dystonia.":[295],"She":[296,414],"presented":[297,338],"telarche":[298],"12":[303],"menarche":[305],"13,":[307],"around":[310,501],"20":[311],"menstrual":[315],"irregularity.":[316],"hormonal":[318],"evaluation":[319,539],"conducted":[320],"later":[321],"diagnosed":[322],"hypothyroidism":[323],"due":[324],"thyroiditis.":[327],"physical":[330],"exam":[331],"30,":[336],"obesity":[339],"(weighing":[340],"70":[341],"kg,":[342],"between":[343,365],"90\u201397":[345],"percentiles),":[346,368],"stature":[348],"(149":[349],"cm,":[350],"under":[351],"percentile),":[354,379],"brachycephaly,":[355],"but":[356],"microcephalia":[358],"(head":[359],"circumference":[360],"53":[362],"cm":[363],"\u2013":[364],"2\u201350":[367],"rounded":[369],"face,":[370,391],"ocular":[371],"hypertelorism":[372],"(interpupillary":[373],"distance":[374],"higher":[375],"than":[376],"97":[378],"ptosis,":[380],"blepharospasm,":[381],"corneal":[382],"opacification,":[383],"hypoplasia":[384],"middle":[387],"third":[388,506],"broad":[392,399,404],"nasal":[393],"bridge,":[394],"high":[395],"palate,":[396],"neck,":[400],"low":[401],"posterior":[402],"hairline,":[403],"thorax":[405,519],"accentuated":[407],"kyphosis":[409],"(Figs":[410,427,463,578],"1A":[411,464],"B).":[413,466],"dextroconvex":[417,535],"thoracic":[418,532,536],"scoliosis,":[419],"small":[420],"hands":[421],"feet":[423],"hyperconvex":[425],"nails":[426],"1C":[428],"D)":[430],"achromic":[432],"spots":[433],"sizes,":[436],"spread":[437],"about":[438],"(thorax,":[441],"dorsum":[442],"members),":[444],"diagnosed.":[448],"face":[450],"remained":[451],"fixed":[454],"position,":[455],"always":[456],"turned":[457],"right":[460,554],"downwards":[462],"Nuclear":[467],"magnetic":[468],"resonance":[469],"skull":[472],"revealed":[473,521,567],"dilated":[475],"ventricular":[476],"system,":[477],"presence":[480,542],"multiple":[482],"hypersinal":[483],"foci":[484],"T2":[486],"DP":[488],"semi-oval":[491],"centers,":[492],"gadolinium":[494],"impregnation,":[495],"suggestive":[496,508],"demyeliminating":[498],"lesions,":[499],"lateral":[503],"ventricles":[504],"ventricle,":[507],"periependimal":[510],"leukomalacia":[511],"(Fig":[512],"2A).":[513],"Electroencephalograph":[514],"assessment":[515],"normal.":[517,588],"radiograph":[520],"hyperkyphosis":[522],"reduction":[525],"height":[528],"seventh":[531],"vertebra":[533],"scoliosis.":[537],"Ophthalmological":[538],"verified":[540],"intense":[544],"photophobia,":[545],"bilateral":[546],"keratocone":[547],"lower":[549],"conjunctival":[550],"pannus":[551],"entire":[558],"left":[559],"eye.":[560],"Chromosomal":[561],"analysis":[562],"through":[563],"GTG":[564],"banding":[565],"karyotype":[566,583],"involving":[570],"18:":[576],"46,XX,del(18)(p11.1)":[577],"2B":[579],"2C).":[581],"parents":[586]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
