{"id":"https://openalex.org/W2047102447","doi":"https://doi.org/10.1590/s0004-282x1997000400001","title":"Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients","display_name":"Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients","publication_year":1997,"publication_date":"1997-09-01","ids":{"openalex":"https://openalex.org/W2047102447","doi":"https://doi.org/10.1590/s0004-282x1997000400001","mag":"2047102447","pmid":"https://pubmed.ncbi.nlm.nih.gov/9629399"},"language":"en","primary_location":{"id":"doi:10.1590/s0004-282x1997000400001","doi":"https://doi.org/10.1590/s0004-282x1997000400001","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x1997000400001","pdf_url":"https://www.scielo.br/j/anp/a/gcR6swgH486chfXn6RFFHwB/?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":false,"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":"hybrid","oa_url":"https://www.scielo.br/j/anp/a/gcR6swgH486chfXn6RFFHwB/?lang=en&format=pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","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/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Iscia Lopes-Cendesi","raw_affiliation_strings":["McGill University,  Canada","McGill University; Montreal; Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"McGill University,  Canada","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"McGill University; Montreal; Canada","institution_ids":["https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113734308","display_name":"Helio Ghizoni Teive","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"H\u00e9lio G.A. Teive","raw_affiliation_strings":["Universidade Federal do Paran\u00e1,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Paran\u00e1,  Brasil","institution_ids":["https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077079258","display_name":"Mar\u00eda Elisa Calcagnotto","orcid":"https://orcid.org/0000-0001-8196-0596","observed_orcids":["https://orcid.org/0000-0001-8196-0596"]},"institutions":[{"id":"https://openalex.org/I45643870","display_name":"Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul","ror":"https://ror.org/025vmq686","country_code":"BR","type":"education","lineage":["https://openalex.org/I45643870"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Maria E Calcagnotto","raw_affiliation_strings":["Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul,  Brasil","institution_ids":["https://openalex.org/I45643870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109713545","display_name":"Jaderson Costa da Costa","orcid":"https://orcid.org/0000-0001-6776-1515","observed_orcids":["https://orcid.org/0000-0001-6776-1515"]},"institutions":[{"id":"https://openalex.org/I45643870","display_name":"Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul","ror":"https://ror.org/025vmq686","country_code":"BR","type":"education","lineage":["https://openalex.org/I45643870"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jaderson C. da Costa","raw_affiliation_strings":["Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pontif\u00edcia Universidade Cat\u00f3lica do Rio Grande do Sul,  Brasil","institution_ids":["https://openalex.org/I45643870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013758684","display_name":"Francisco Cardoso","orcid":"https://orcid.org/0000-0003-0808-0116","observed_orcids":["https://orcid.org/0000-0003-0808-0116"]},"institutions":[{"id":"https://openalex.org/I110200422","display_name":"Universidade Federal de Minas Gerais","ror":"https://ror.org/0176yjw32","country_code":"BR","type":"education","lineage":["https://openalex.org/I110200422"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Francisco Cardoso","raw_affiliation_strings":["Universidade Federal de Minas Gerais,  Brasil","Universidade Federal de Minas Gerais, BELO HORIZONTE, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Minas Gerais,  Brasil","institution_ids":["https://openalex.org/I110200422"]},{"raw_affiliation_string":"Universidade Federal de Minas Gerais, BELO HORIZONTE, Brasil","institution_ids":["https://openalex.org/I110200422"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021255841","display_name":"Erika M. Viana","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I110200422","display_name":"Universidade Federal de Minas Gerais","ror":"https://ror.org/0176yjw32","country_code":"BR","type":"education","lineage":["https://openalex.org/I110200422"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Erika Viana","raw_affiliation_strings":["Universidade Federal de Minas Gerais,  Brasil","Universidade Federal de Minas Gerais, BELO HORIZONTE, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Minas Gerais,  Brasil","institution_ids":["https://openalex.org/I110200422"]},{"raw_affiliation_string":"Universidade Federal de Minas Gerais, BELO HORIZONTE, Brasil","institution_ids":["https://openalex.org/I110200422"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064602199","display_name":"J A Maciel J\u00fanior","orcid":null,"observed_orcids":[]},"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":"Jaime A. Maciel","raw_affiliation_strings":["Universidade Estadual de Campinas,  Brasil","Universidade Estadual de Campinas, Campinas. Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Estadual de Campinas,  Brasil","institution_ids":["https://openalex.org/I181391015"]},{"raw_affiliation_string":"Universidade Estadual de Campinas, Campinas. Brasil","institution_ids":["https://openalex.org/I181391015"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041815099","display_name":"Jo\u00e3o Radvany","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800288331","display_name":"Hospital Israelita Albert Einstein","ror":"https://ror.org/04cwrbc27","country_code":"BR","type":"funder","lineage":["https://openalex.org/I2800288331"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jo\u00e3o Radvany","raw_affiliation_strings":["Hospital Albert Einstein,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Albert Einstein,  Brasil","institution_ids":["https://openalex.org/I2800288331"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091205251","display_name":"Walter Oleschko Arruda","orcid":"https://orcid.org/0000-0002-2233-2183","observed_orcids":["https://orcid.org/0000-0002-2233-2183"]},"institutions":[{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Walter O. Arruda","raw_affiliation_strings":["McGill University,  Canada","McGill University; Montreal; Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"McGill University,  Canada","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"McGill University; Montreal; Canada","institution_ids":["https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033163523","display_name":"Paulo Cesar Trevisol-Bittencourt","orcid":"https://orcid.org/0009-0003-2522-211X","observed_orcids":["https://orcid.org/0009-0003-2522-211X"]},"institutions":[{"id":"https://openalex.org/I4104125","display_name":"Universidade Federal de Santa Catarina","ror":"https://ror.org/041akq887","country_code":"BR","type":"education","lineage":["https://openalex.org/I4104125"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Paulo C. Trevisol-Bittencourt","raw_affiliation_strings":["Universidade Federal de Santa Catarina,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal de Santa Catarina,  Brasil","institution_ids":["https://openalex.org/I4104125"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091097481","display_name":"Pedro Rosa\u2010Neto","orcid":"https://orcid.org/0000-0001-9116-1376","observed_orcids":["https://orcid.org/0000-0001-9116-1376"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pedro Rosa Neto","raw_affiliation_strings":["Dongkwangju Hospital,  Korea","Dongkwangju Hospital, Kwangju, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dongkwangju Hospital,  Korea","institution_ids":[]},{"raw_affiliation_string":"Dongkwangju Hospital, Kwangju, Korea","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031106644","display_name":"Isabel Silveira","orcid":"https://orcid.org/0000-0002-2610-5260","observed_orcids":["https://orcid.org/0000-0002-2610-5260"]},"institutions":[{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Isabel Silveira","raw_affiliation_strings":["McGill University,  Canada","McGill University; Montreal; Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"McGill University,  Canada","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"McGill University; Montreal; Canada","institution_ids":["https://openalex.org/I5023651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080734938","display_name":"Carlos Eduardo Steiner","orcid":"https://orcid.org/0000-0001-5148-3063","observed_orcids":["https://orcid.org/0000-0001-5148-3063"]},"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":"Carlos E. Steiner","raw_affiliation_strings":["Unicamp, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unicamp, Brasil","institution_ids":["https://openalex.org/I181391015"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013617115","display_name":"Walter Pinto J\u00fanior","orcid":null,"observed_orcids":[]},"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":"Walter Pinto-J\u00fanior","raw_affiliation_strings":["Unicamp, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unicamp, Brasil","institution_ids":["https://openalex.org/I181391015"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082283472","display_name":"Andr\u00e9 Soares Santos","orcid":"https://orcid.org/0000-0002-2856-7100","observed_orcids":["https://orcid.org/0000-0002-2856-7100"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andr\u00e9 S. Santos","raw_affiliation_strings":["Hospital de Caridade,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital de Caridade,  Brasil","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025704294","display_name":"Ylmar Corr\u00eaa Neto","orcid":"https://orcid.org/0000-0001-7032-5300","observed_orcids":["https://orcid.org/0000-0001-7032-5300"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Ylmar Correa Neto","raw_affiliation_strings":["Universidade Federal do Rio de Janeiro,  Brasil","Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro,  Brasil","institution_ids":["https://openalex.org/I122140584"]},{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085333671","display_name":"Lineu C\u00e9sar Werneck","orcid":"https://orcid.org/0000-0003-1921-1038","observed_orcids":["https://orcid.org/0000-0003-1921-1038"]},"institutions":[{"id":"https://openalex.org/I52418104","display_name":"Universidade Federal do Paran\u00e1","ror":"https://ror.org/05syd6y78","country_code":"BR","type":"education","lineage":["https://openalex.org/I52418104"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Lineu C. Werneck","raw_affiliation_strings":["Universidade Federal do Paran\u00e1,  Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Paran\u00e1,  Brasil","institution_ids":["https://openalex.org/I52418104"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055586831","display_name":"Abelardo Ara\u00fajo","orcid":"https://orcid.org/0000-0001-7694-7223","observed_orcids":["https://orcid.org/0000-0001-7694-7223"]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Abelardo Q.C. Ara\u00fajo","raw_affiliation_strings":["Universidade Federal do Rio de Janeiro,  Brasil","Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro,  Brasil","institution_ids":["https://openalex.org/I122140584"]},{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060379304","display_name":"Gerson Carakushansky","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122140584","display_name":"Universidade Federal do Rio de Janeiro","ror":"https://ror.org/03490as77","country_code":"BR","type":"education","lineage":["https://openalex.org/I122140584"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Gerson Carakushansky","raw_affiliation_strings":["Universidade Federal do Rio de Janeiro,  Brasil","Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro,  Brasil","institution_ids":["https://openalex.org/I122140584"]},{"raw_affiliation_string":"Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil","institution_ids":["https://openalex.org/I122140584"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045939875","display_name":"Luiz Renato Mello","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210105683","display_name":"Universidade Regional de Blumenau","ror":"https://ror.org/01nsn0t21","country_code":"BR","type":"education","lineage":["https://openalex.org/I4210105683"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Luiz R. Mello","raw_affiliation_strings":["Universidade Regional de Blumenau,  Brasil","Universidade Regional de Blumenau, Blumenau, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Regional de Blumenau,  Brasil","institution_ids":["https://openalex.org/I4210105683"]},{"raw_affiliation_string":"Universidade Regional de Blumenau, Blumenau, Brasil","institution_ids":["https://openalex.org/I4210105683"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017294567","display_name":"Laura Bannach Jardim","orcid":"https://orcid.org/0000-0001-6907-5068","observed_orcids":["https://orcid.org/0000-0001-6907-5068"]},"institutions":[{"id":"https://openalex.org/I130442723","display_name":"Universidade Federal do Rio Grande do Sul","ror":"https://ror.org/041yk2d64","country_code":"BR","type":"education","lineage":["https://openalex.org/I130442723"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Laura B. Jardim","raw_affiliation_strings":["Universidade Federal do Rio Grande do Sul,  Brasil","Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul,  Brasil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul, Porto Alegre, Brasil","institution_ids":["https://openalex.org/I130442723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418","https://orcid.org/0000-0002-6665-8572"]},"institutions":[{"id":"https://openalex.org/I5023651","display_name":"McGill University","ror":"https://ror.org/01pxwe438","country_code":"CA","type":"education","lineage":["https://openalex.org/I5023651"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":["McGill University,  Canada","McGill University; Montreal; Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"McGill University,  Canada","institution_ids":["https://openalex.org/I5023651"]},{"raw_affiliation_string":"McGill University; Montreal; Canada","institution_ids":["https://openalex.org/I5023651"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":10,"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":0.6337,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.62292745,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"55","issue":"3B","first_page":"519","last_page":"529"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"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":0.9994999766349792,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/spinocerebellar-ataxia","display_name":"spinocerebellar ataxia","score":0.9430000185966492},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-1","display_name":"spinocerebellar ataxia type 1","score":0.9610000252723694},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-2","display_name":"spinocerebellar ataxia type 2","score":1.0},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-3","display_name":"spinocerebellar ataxia type 3","score":0.9860000014305115},{"id":"https://openalex.org/keywords/dentatorubropallidoluysian-atrophy","display_name":"dentatorubropallidoluysian atrophy","score":0.9440000057220459},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.9660000205039978},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.7409999966621399},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9660000205039978},{"id":"https://openalex.org/keywords/regional-variation","display_name":"regional variation","score":0.7129999995231628},{"id":"https://openalex.org/keywords/brazilian-population","display_name":"Brazilian population","score":0.8840000033378601}],"concepts":[{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.8795641660690308},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5794515609741211},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4061768054962158},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.3272843658924103},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2748163938522339},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08284962177276611}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001938","descriptor_name":"Brazil","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013132","descriptor_name":"Spinocerebellar Degenerations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017827","descriptor_name":"Machado-Joseph Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1590/s0004-282x1997000400001","doi":"https://doi.org/10.1590/s0004-282x1997000400001","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x1997000400001","pdf_url":"https://www.scielo.br/j/anp/a/gcR6swgH486chfXn6RFFHwB/?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":false,"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:9629399","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9629399","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:americanae.aecid.es:2839179","doi":null,"is_oa":true,"landing_page_url":"http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/11884","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"SciELO","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:repositorio.unicamp.br:REPOSIP/202333","doi":null,"is_oa":true,"landing_page_url":"http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/11884","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":"SciELO","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:scielo:S0004-282X1997000400001","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&amp;pid=S0004-282X1997000400001","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.55 n.3B 1997","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2742857","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2742857","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.55 n.3B 1997","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:02bdfc208fe340e890a607549bd42d95","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/02bdfc208fe340e890a607549bd42d95","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 55, Iss 3B, Pp 519-529 (1997)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1590/s0004-282x1997000400001","doi":"https://doi.org/10.1590/s0004-282x1997000400001","is_oa":true,"landing_page_url":"https://doi.org/10.1590/s0004-282x1997000400001","pdf_url":"https://www.scielo.br/j/anp/a/gcR6swgH486chfXn6RFFHwB/?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":false,"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":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G4549968725","display_name":null,"funder_award_id":"NS 31687","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G5337251076","display_name":"IDENTIFICATION OF THE MACHADO JOSEPH DISEASE GENE","funder_award_id":"R01NS031687","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W2047102447.pdf"},"referenced_works_count":64,"referenced_works":["https://openalex.org/W41324937","https://openalex.org/W1505199084","https://openalex.org/W1519690546","https://openalex.org/W1531178007","https://openalex.org/W1561216395","https://openalex.org/W1579999297","https://openalex.org/W1868263348","https://openalex.org/W1965358081","https://openalex.org/W1965729101","https://openalex.org/W1965771802","https://openalex.org/W1968806655","https://openalex.org/W1971047357","https://openalex.org/W1972666360","https://openalex.org/W1976131446","https://openalex.org/W1982641921","https://openalex.org/W1988770591","https://openalex.org/W1989619236","https://openalex.org/W1990487314","https://openalex.org/W1994365762","https://openalex.org/W1996680996","https://openalex.org/W2001335034","https://openalex.org/W2006743401","https://openalex.org/W2008706402","https://openalex.org/W2012481532","https://openalex.org/W2015419243","https://openalex.org/W2022486367","https://openalex.org/W2025681974","https://openalex.org/W2047008648","https://openalex.org/W2048315568","https://openalex.org/W2050244960","https://openalex.org/W2054457761","https://openalex.org/W2057906434","https://openalex.org/W2063199951","https://openalex.org/W2063608117","https://openalex.org/W2064551580","https://openalex.org/W2073012734","https://openalex.org/W2079734124","https://openalex.org/W2084522377","https://openalex.org/W2091279640","https://openalex.org/W2092762531","https://openalex.org/W2094638797","https://openalex.org/W2096206656","https://openalex.org/W2110008395","https://openalex.org/W2112283531","https://openalex.org/W2113333419","https://openalex.org/W2116758780","https://openalex.org/W2121642311","https://openalex.org/W2132888958","https://openalex.org/W2133264126","https://openalex.org/W2137374371","https://openalex.org/W2137546687","https://openalex.org/W2140112946","https://openalex.org/W2145128971","https://openalex.org/W2153158846","https://openalex.org/W2158155007","https://openalex.org/W2255469197","https://openalex.org/W2314225431","https://openalex.org/W2324413861","https://openalex.org/W2336161320","https://openalex.org/W2417293518","https://openalex.org/W2749909700","https://openalex.org/W2888881508","https://openalex.org/W3034821922","https://openalex.org/W7025017341"],"related_works":["https://openalex.org/W2015419243","https://openalex.org/W1991925160","https://openalex.org/W2043575276","https://openalex.org/W2021534891","https://openalex.org/W2094638797","https://openalex.org/W2103719228","https://openalex.org/W2117328158","https://openalex.org/W2088364990","https://openalex.org/W2047864382","https://openalex.org/W4389438396"],"abstract_inverted_index":{"Spinocerebellar":[0],"ataxia":[1,6,15,27],"type":[2,7,16],"1":[3],"(SCA1),":[4],"spinocerebellar":[5,14,26],"2":[8],"(SCA2)":[9],"and":[10,60,78,97,132,149,169,227,234],"Machado-Joseph":[11],"disease":[12],"or":[13],"3":[17],"(MJD/SCA3)":[18],"are":[19],"three":[20],"distinctive":[21],"forms":[22],"of":[23,32,42,73,95,103,113,123,129,146,152,166,173,191,199,210,213,244],"autosomal":[24,118,156],"dominant":[25,119,157],"(SCA)":[28],"caused":[29,54,223],"by":[30,55,224],"expansions":[31],"an":[33,56],"unstable":[34,57],"CAG":[35],"repeat":[36,59],"localized":[37],"in":[38,65,81,99,108,134,144,150,164,170,188,230,248],"the":[39,43,71,74,124,135,141,153,171,174,189,192,200,207,225,231,236,240],"coding":[40],"region":[41],"causative":[44],"genes.":[45],"Another":[46],"related":[47,205],"disease,":[48],"dentatorubropallidoluysian":[49],"atrophy":[50],"(DRPLA)":[51],"is":[52,203,239],"also":[53],"triplet":[58],"can":[61],"present":[62],"as":[63],"SCA":[64,219,247],"late":[66],"onset":[67],"patients.":[68],"We":[69,105,139,178],"investigated":[70],"frequency":[72,122,190],"SCA1,":[75],"SCA2,":[76],"MJD/SCA3":[77,160,237],"DRPLA":[79,181],"mutations":[80,107,194,229],"328":[82],"Brazilian":[83,232],"patients":[84],"with":[85,92,115,155],"SCA,":[86],"belonging":[87],"to":[88,196,206],"90":[89],"unrelated":[90],"families":[91,110,148,154],"various":[93],"patterns":[94],"inheritance":[96],"originating":[98],"different":[100,193,211],"geographic":[101,197],"regions":[102],"Brazil.":[104,214,249],"found":[106,179],"35":[109],"(39%),":[111],"32":[112],"them":[114],"a":[116],"clear":[117],"inheritance.":[120,158],"The":[121,159],"SCA1":[125,226],"mutation":[126,143,161,238],"was":[127,162],"3%":[128],"all":[130,147,167],"patients;":[131,168],"6%":[133,145],"dominantly":[136,175,245],"inherited":[137,176,246],"SCAs.":[138],"identified":[140],"SCA2":[142,228],"9%":[151],"detected":[163],"30%":[165],"44%":[172],"cases.":[177],"no":[180],"mutation.":[182],"In":[183],"addition,":[184],"we":[185],"observed":[186],"variability":[187],"according":[195],"origin":[198],"patients,":[201],"which":[202],"probably":[204],"distinct":[208],"colonization":[209],"parts":[212],"These":[215],"results":[216],"suggest":[217],"that":[218,235],"may":[220],"be":[221],"occasionally":[222],"population,":[233],"most":[241],"common":[242],"cause":[243]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}
