{"id":"https://openalex.org/W1993392157","doi":"https://doi.org/10.1590/s0004-282x2011000400002","title":"Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype","display_name":"Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype","publication_year":2011,"publication_date":"2011-06-01","ids":{"openalex":"https://openalex.org/W1993392157","doi":"https://doi.org/10.1590/s0004-282x2011000400002","mag":"1993392157","pmid":"https://pubmed.ncbi.nlm.nih.gov/21755114"},"language":"en","primary_location":{"id":"doi:10.1590/s0004-282x2011000400002","doi":"https://doi.org/10.1590/s0004-282x2011000400002","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2011000400002","pdf_url":"https://www.scielo.br/j/anp/a/cTT3Rvv7jZtHLnRCsvHQKNp/?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","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.scielo.br/j/anp/a/cTT3Rvv7jZtHLnRCsvHQKNp/?lang=en&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068636646","display_name":"Guilherme Riccioppo Rodrigues","orcid":"https://orcid.org/0000-0003-1475-1908","observed_orcids":["https://orcid.org/0000-0003-1475-1908"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Guilherme Riccioppo Rodrigues","raw_affiliation_strings":["University of S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007116905","display_name":"Ruth Helen Walker","orcid":"https://orcid.org/0000-0002-8366-072X","observed_orcids":["https://orcid.org/0000-0002-8366-072X"]},"institutions":[{"id":"https://openalex.org/I98704320","display_name":"Icahn School of Medicine at Mount Sinai","ror":"https://ror.org/04a9tmd77","country_code":"US","type":"education","lineage":["https://openalex.org/I1320796813","https://openalex.org/I98704320"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ruth H. Walker","raw_affiliation_strings":["Mount Sinai School of Medicine, USA","Mount Sinai School of Medicine New York USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mount Sinai School of Medicine, USA","institution_ids":["https://openalex.org/I98704320"]},{"raw_affiliation_string":"Mount Sinai School of Medicine New York USA","institution_ids":["https://openalex.org/I98704320"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109185688","display_name":"Benedikt Bader","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Benedikt Bader","raw_affiliation_strings":["Ludwig-Maximilians-Universit\u00e4t, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ludwig-Maximilians-Universit\u00e4t, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084389843","display_name":"Adrian Danek","orcid":"https://orcid.org/0000-0001-8857-5383","observed_orcids":["https://orcid.org/0000-0001-8857-5383"]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Adrian Danek","raw_affiliation_strings":["Ludwig-Maximilians-Universit\u00e4t, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ludwig-Maximilians-Universit\u00e4t, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["Assistance Publique; H\u00f4pitaux de Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique; H\u00f4pitaux de Paris, France","institution_ids":["https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103431927","display_name":"C\u00e9cile Cazeneuve","orcid":"https://orcid.org/0000-0002-5195-9348","observed_orcids":["https://orcid.org/0000-0002-5195-9348"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00e9cile Cazeneuve","raw_affiliation_strings":["Assistance Publique; H\u00f4pitaux de Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique; H\u00f4pitaux de Paris, France","institution_ids":["https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054198152","display_name":"Odile Russaouen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Odile Russaouen","raw_affiliation_strings":["Assistance Publique; H\u00f4pitaux de Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique; H\u00f4pitaux de Paris, France","institution_ids":["https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013301045","display_name":"\u00cdscia Lopes\u2010Cendes","orcid":"https://orcid.org/0000-0002-6221-6822","observed_orcids":["https://orcid.org/0000-0002-6221-6822"]},"institutions":[{"id":"https://openalex.org/I181391015","display_name":"Universidade Estadual de Campinas (UNICAMP)","ror":"https://ror.org/04wffgt70","country_code":"BR","type":"education","lineage":["https://openalex.org/I181391015"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Iscia Lopes-Cendes","raw_affiliation_strings":["University of Campinas, Brazil","University of Campinas, Campinas, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Campinas, Brazil","institution_ids":["https://openalex.org/I181391015"]},{"raw_affiliation_string":"University of Campinas, Campinas, Brazil","institution_ids":["https://openalex.org/I181391015"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045883116","display_name":"Wilson Marques","orcid":"https://orcid.org/0000-0002-4589-2749","observed_orcids":["https://orcid.org/0000-0002-4589-2749","https://orcid.org/0000-0001-5821-4042"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Wilson Marques Jr.","raw_affiliation_strings":["University of S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002568782","display_name":"V\u00edtor Tumas","orcid":"https://orcid.org/0000-0003-2402-2709","observed_orcids":["https://orcid.org/0000-0003-2402-2709"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Vitor Tumas","raw_affiliation_strings":["University of S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":200,"currency":"USD","value_usd":200},"apc_paid":{"value":200,"currency":"USD","value_usd":200},"fwci":0.6625,"has_fulltext":true,"cited_by_count":23,"citation_normalized_percentile":{"value":0.61596306,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"69","issue":"3","first_page":"419","last_page":"423"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"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/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/T13481","display_name":"Neurological diseases and metabolism","score":0.0,"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/spinocerebellar-ataxia","display_name":"spinocerebellar ataxia","score":0.8640000224113464},{"id":"https://openalex.org/keywords/htt-gene","display_name":"HTT gene","score":0.9490000009536743},{"id":"https://openalex.org/keywords/chorea-acanthocytosis","display_name":"chorea-acanthocytosis","score":0.9369999766349792},{"id":"https://openalex.org/keywords/dentatorubral-pallidoluysian-atrophy","display_name":"dentatorubral-pallidoluysian atrophy","score":0.9959999918937683},{"id":"https://openalex.org/keywords/african-ancestry","display_name":"African ancestry","score":0.7080000042915344},{"id":"https://openalex.org/keywords/brazilian-patients","display_name":"Brazilian patients","score":0.7279999852180481}],"concepts":[{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.8113764524459839},{"id":"https://openalex.org/C2778868616","wikidata":"https://www.wikidata.org/wiki/Q1076421","display_name":"Chorea","level":3,"score":0.7507365942001343},{"id":"https://openalex.org/C2780647506","wikidata":"https://www.wikidata.org/wiki/Q190564","display_name":"Huntington's disease","level":3,"score":0.7318159937858582},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5898284912109375},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.558590829372406},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5501242876052856},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.5433831810951233},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5085030794143677},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4867079555988312},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.45687663555145264},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.44925105571746826},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.410239577293396},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.39099642634391785},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36764511466026306},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2937508225440979},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23131057620048523},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.21331652998924255},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1258220076560974},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003430","descriptor_name":"Cross-Sectional Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019680","descriptor_name":"Trinucleotide Repeat Expansion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020191","descriptor_name":"Myoclonic Epilepsies, Progressive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D054546","descriptor_name":"Neuroacanthocytosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D054546","descriptor_name":"Neuroacanthocytosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":11,"locations":[{"id":"doi:10.1590/s0004-282x2011000400002","doi":"https://doi.org/10.1590/s0004-282x2011000400002","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2011000400002","pdf_url":"https://www.scielo.br/j/anp/a/cTT3Rvv7jZtHLnRCsvHQKNp/?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:21755114","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21755114","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":"Journal Article"},{"id":"pmh:oai:repositorio.unicamp.br:REPOSIP/107862","doi":null,"is_oa":true,"landing_page_url":"http://www.repositorio.unicamp.br/handle/REPOSIP/107862","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":"Scopus","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:repositorio.unicamp.br:REPOSIP/56012","doi":null,"is_oa":true,"landing_page_url":"http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56012","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":"Web of Science","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:scielo:S0004-282X2011000400002","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400002","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.69 n.3 2011","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:www.producao.usp.br:BDPI/7789","doi":null,"is_oa":false,"landing_page_url":"http://producao.usp.br/handle/BDPI/7789","pdf_url":null,"source":{"id":"https://openalex.org/S4306402433","display_name":"Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"reponame:Reposit\u00f3rio Institucional da USP","raw_type":"publishedVersion"},{"id":"pmh:oai:americanae.aecid.es:2658798","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400002","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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Arquivos de Neuro-Psiquiatria v.69 n.3 2011","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2828247","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2828247","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":"Web of Science","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:americanae.aecid.es:2835104","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2835104","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":"Scopus","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:doaj.org/article:e53ede2eaeef42018ebb0d9107df1c14","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/e53ede2eaeef42018ebb0d9107df1c14","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Arquivos de Neuro-Psiquiatria, Vol 69, Iss 3, Pp 419-423 (2011)","raw_type":"article"},{"id":"pmh:oai:epub.ub.uni-muenchen.de:14854","doi":null,"is_oa":false,"landing_page_url":"https://epub.ub.uni-muenchen.de/14854/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401845","display_name":"Open access LMU (Ludwid Maxmilian's Universitat Munchen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I8204097","host_organization_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","host_organization_lineage":["https://openalex.org/I8204097"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Arquivos de Neuro-Psiquiatria","raw_type":"doc-type:article"}],"best_oa_location":{"id":"doi:10.1590/s0004-282x2011000400002","doi":"https://doi.org/10.1590/s0004-282x2011000400002","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x2011000400002","pdf_url":"https://www.scielo.br/j/anp/a/cTT3Rvv7jZtHLnRCsvHQKNp/?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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1993392157.pdf","grobid_xml":"https://content.openalex.org/works/W1993392157.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W78481767","https://openalex.org/W1484496882","https://openalex.org/W1529439802","https://openalex.org/W1965989861","https://openalex.org/W1966424983","https://openalex.org/W1972406416","https://openalex.org/W1973357479","https://openalex.org/W1974947948","https://openalex.org/W1983178344","https://openalex.org/W1987022943","https://openalex.org/W2004244315","https://openalex.org/W2015591312","https://openalex.org/W2029989442","https://openalex.org/W2034651164","https://openalex.org/W2038539263","https://openalex.org/W2051141547","https://openalex.org/W2059819499","https://openalex.org/W2066633780","https://openalex.org/W2086332328","https://openalex.org/W2105360116","https://openalex.org/W2119194938","https://openalex.org/W2129611261","https://openalex.org/W2140657325","https://openalex.org/W2166118324","https://openalex.org/W2317137640","https://openalex.org/W2414915347","https://openalex.org/W2556745491"],"related_works":["https://openalex.org/W7098525809","https://openalex.org/W1518760113","https://openalex.org/W2749885050","https://openalex.org/W2029989442","https://openalex.org/W7125507255","https://openalex.org/W7096115801","https://openalex.org/W1973357479","https://openalex.org/W4302306714","https://openalex.org/W4389447021","https://openalex.org/W1982945967"],"abstract_inverted_index":{"Huntington's":[0,55],"disease":[1,133],"(HD)":[2],"is":[3,119],"a":[4,16,77],"neurodegenerative":[5],"disorder":[6],"characterized":[7],"by":[8,15],"chorea,":[9],"behavioral":[10],"disturbances":[11],"and":[12,69,90,118],"dementia,":[13],"caused":[14],"pathological":[17],"expansion":[18],"of":[19,43,51,102,110,125,131,139],"the":[20,24,33,38,49,81,103,107,111,115,122,129,132,137,140],"CAG":[21],"trinucleotide":[22],"in":[23,100,114,136],"HTT":[25],"gene.":[26],"Several":[27],"patients":[28,75,87,92,143],"have":[29],"been":[30],"recognized":[31],"with":[32,76,88,93,144],"typical":[34],"HD":[35,141],"phenotype":[36,113],"without":[37],"expected":[39],"mutation.":[40],"The":[41,95],"objective":[42],"this":[44,126],"study":[45],"was":[46,97,106],"to":[47,121],"assess":[48],"occurrence":[50],"diseases":[52],"such":[53],"as":[54],"disease-like":[56],"2":[57,91],"(HDL2),":[58],"spinocerebellar":[59],"ataxia":[60],"(SCA)":[61],"1,":[62],"SCA2,":[63],"SCA3,":[64],"SCA7,":[65],"dentatorubral-pallidoluysian":[66],"atrophy":[67],"(DRPLA)":[68],"chorea-acanthocytosis":[70],"(ChAc)":[71],"among":[72],"29":[73],"Brazilian":[74],"HD-like":[78,112,145],"phenotype.":[79,146],"In":[80],"group":[82,116],"analyzed,":[83,117],"we":[84],"found":[85],"3":[86],"HDL2":[89,105],"ChAc.":[94],"diagnosis":[96],"not":[98],"reached":[99],"79.3%":[101],"patients.":[104],"main":[108],"cause":[109],"attributable":[120],"African":[123],"ancestry":[124],"population.":[127],"However,":[128],"etiology":[130],"remains":[134],"undetermined":[135],"majority":[138],"negative":[142]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}