{"id":"https://openalex.org/W2949540511","doi":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","title":"State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change","display_name":"State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2949540511","doi":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","mag":"2949540511","pmid":"https://pubmed.ncbi.nlm.nih.gov/31188927","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6687346"},"language":"en","primary_location":{"id":"doi:10.1590/1678-4685-gmb-2018-0103","doi":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","is_oa":true,"landing_page_url":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","pdf_url":"http://www.scielo.br/pdf/gmb/v42n1s1/1415-4757-GMB-1678-4685-GMB-2018-0103.pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","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":"http://www.scielo.br/pdf/gmb/v42n1s1/1415-4757-GMB-1678-4685-GMB-2018-0103.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5002684381","display_name":"Gabriel Vasata Furtado","orcid":"https://orcid.org/0000-0002-7063-4987","observed_orcids":["https://orcid.org/0000-0002-7063-4987"]},"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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Gabriel Vasata Furtado","raw_affiliation_strings":["Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Laborat\u00f3rio de Identifica\u00e7\u00e3o Gen\u00e9tica,  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil","Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilLaboratorio de Identificacao Genetica, Hospital de Clinicas (HCPA), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Laborat\u00f3rio de Identifica\u00e7\u00e3o Gen\u00e9tica,  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilLaboratorio de Identificacao Genetica, Hospital de Clinicas (HCPA), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109473628","display_name":"Camila Maria de Oliveira","orcid":"https://orcid.org/0000-0001-9425-7621","observed_orcids":["https://orcid.org/0000-0001-9425-7621"]},"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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Camila Maria de Oliveira","raw_affiliation_strings":["Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080062575","display_name":"Gabriela Bolzan","orcid":"https://orcid.org/0000-0002-1110-6471","observed_orcids":["https://orcid.org/0000-0002-1110-6471"]},"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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Gabriela Bolzan","raw_affiliation_strings":["Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil"],"raw_orcid":"https://orcid.org/0000-0002-1110-6471","affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089200023","display_name":"Jonas Alex Morales Saute","orcid":"https://orcid.org/0000-0003-1141-6573","observed_orcids":["https://orcid.org/0000-0003-1141-6573","https://orcid.org/0000-0003-1646-2667"]},"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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Jonas Alex Morales Saute","raw_affiliation_strings":["Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilDepartamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Servico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilDepartamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076428047","display_name":"Maria Luiza Saraiva Pereira","orcid":"https://orcid.org/0000-0003-3905-9563","observed_orcids":["https://orcid.org/0000-0003-3905-9563"]},"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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Maria Luiza Saraiva-Pereira","raw_affiliation_strings":["Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Laborat\u00f3rio de Identifica\u00e7\u00e3o Gen\u00e9tica,  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilLaboratorio de Identificacao Genetica, Hospital de Clinicas (HCPA), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilDepartamento de Bioquimica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil"],"raw_orcid":"https://orcid.org/0000-0003-3905-9563","affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Laborat\u00f3rio de Identifica\u00e7\u00e3o Gen\u00e9tica,  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilLaboratorio de Identificacao Genetica, Hospital de Clinicas (HCPA), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilDepartamento de Bioquimica, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]},{"author_position":"last","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"]},{"id":"https://openalex.org/I4210097146","display_name":"Hospital de Cl\u00ednicas de Porto Alegre","ror":"https://ror.org/010we4y38","country_code":"BR","type":"healthcare","lineage":["https://openalex.org/I4210097146"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Laura Bannach Jardim","raw_affiliation_strings":["Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilDepartamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil"],"raw_orcid":"https://orcid.org/0000-0001-6907-5068","affiliations":[{"raw_affiliation_string":"Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Servi\u00e7o de Gen\u00e9tica M\u00e9dica,  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil; Universidade Federal do Rio Grande do Sul (UFRGS),  Brazil","institution_ids":["https://openalex.org/I130442723"]},{"raw_affiliation_string":"Programa de Pos-Graduacao em Genetica e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilServico de Genetica Medica, Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilFaculdade de Medicina, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilPrograma de Pos-Graduacao em Medicina: Ciencias Medicas, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, BrazilDepartamento de Medicina Interna, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5002684381","https://openalex.org/A5080062575","https://openalex.org/A5109473628"],"corresponding_institution_ids":["https://openalex.org/I130442723","https://openalex.org/I4210097146"],"apc_list":{"value":700,"currency":"USD","value_usd":700},"apc_paid":{"value":700,"currency":"USD","value_usd":700},"fwci":0.5888,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.57458323,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"42","issue":"1 suppl 1","first_page":"238","last_page":"251"},"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/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-3","display_name":"spinocerebellar ataxia type 3","score":0.9950000047683716},{"id":"https://openalex.org/keywords/surrogate-markers","display_name":"surrogate markers","score":0.734000027179718},{"id":"https://openalex.org/keywords/ataxin-3","display_name":"ataxin-3","score":0.9959999918937683},{"id":"https://openalex.org/keywords/clinical-trial-endpoints","display_name":"clinical trial endpoints","score":0.3970000147819519},{"id":"https://openalex.org/keywords/responsiveness-to-change","display_name":"responsiveness to change","score":0.8870000243186951},{"id":"https://openalex.org/keywords/biomarker-validation","display_name":"biomarker validation","score":0.6769999861717224},{"id":"https://openalex.org/keywords/serum-biomarkers","display_name":"serum biomarkers","score":0.6880000233650208},{"id":"https://openalex.org/keywords/neuron-specific-enolase","display_name":"neuron-specific enolase","score":0.8140000104904175},{"id":"https://openalex.org/keywords/vestibulo-ocular-reflex","display_name":"vestibulo-ocular reflex","score":0.9950000047683716},{"id":"https://openalex.org/keywords/video-oculography","display_name":"video-oculography","score":0.9490000009536743},{"id":"https://openalex.org/keywords/microrna-expression","display_name":"microRNA expression","score":0.8669999837875366},{"id":"https://openalex.org/keywords/beclin-1","display_name":"Beclin-1","score":0.9229999780654907},{"id":"https://openalex.org/keywords/dnajb1","display_name":"DNAJB1","score":0.9070000052452087},{"id":"https://openalex.org/keywords/peripheral-biomarkers","display_name":"peripheral biomarkers","score":0.6499999761581421},{"id":"https://openalex.org/keywords/neurophysiological-markers","display_name":"neurophysiological markers","score":0.9580000042915344}],"concepts":[{"id":"https://openalex.org/C2777748165","wikidata":"https://www.wikidata.org/wiki/Q3026441","display_name":"Machado\u2013Joseph disease","level":4,"score":0.8934363126754761},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.8767433166503906},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5917619466781616},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5660810470581055},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.4352515935897827},{"id":"https://openalex.org/C141341695","wikidata":"https://www.wikidata.org/wiki/Q2368661","display_name":"Surrogate endpoint","level":2,"score":0.424930214881897},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.39932385087013245},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.374186635017395},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.22384992241859436}],"mesh":[],"locations_count":11,"locations":[{"id":"doi:10.1590/1678-4685-gmb-2018-0103","doi":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","is_oa":true,"landing_page_url":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","pdf_url":"http://www.scielo.br/pdf/gmb/v42n1s1/1415-4757-GMB-1678-4685-GMB-2018-0103.pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5656012","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6687346","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:31188927","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31188927","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":"Genetics and molecular biology","raw_type":"Journal Article"},{"id":"pmh:oai:americanae.aecid.es:2648961","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10183/199625","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":"reponame:Reposit\u00f3rio Institucional da UFRGS","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6687346","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6687346/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genet Mol Biol","raw_type":"Text"},{"id":"pmh:oai:scielo:S1415-47572019000200238","doi":null,"is_oa":true,"landing_page_url":"http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200238","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":"Genetics and Molecular Biology v.42 n.1 suppl.1 2019","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:scielo:S1415-47572019005023101","doi":null,"is_oa":true,"landing_page_url":"http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005023101","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":"Genetics and Molecular Biology n.ahead 2019","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:1934902","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=1934902","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":"Genetics and Molecular Biology n.ahead 2019","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:americanae.aecid.es:2494208","doi":null,"is_oa":true,"landing_page_url":"http://americanae.aecid.es/americanae/es/registros/registro.do?tipoRegistro=MTD&idBib=2494208","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":"Genetics and Molecular Biology v.42 n.1 suppl.1 2019","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:ac4da1321c694cbca142ee5095b9cf6a","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/ac4da1321c694cbca142ee5095b9cf6a","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":"Genetics and Molecular Biology, Iss 0","raw_type":"article"},{"id":"pmh:oai:www.lume.ufrgs.br:10183/199625","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10183/199625","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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"instacron:UFRGS","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1590/1678-4685-gmb-2018-0103","doi":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","is_oa":true,"landing_page_url":"https://doi.org/10.1590/1678-4685-gmb-2018-0103","pdf_url":"http://www.scielo.br/pdf/gmb/v42n1s1/1415-4757-GMB-1678-4685-GMB-2018-0103.pdf","source":{"id":"https://openalex.org/S151355818","display_name":"Genetics and Molecular Biology","issn_l":"1415-4757","issn":["1415-4757","1678-4685"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","jufo-1","ki-jl-1","norway-1","oarl","poland-70","russia-white-list-3","scielo"],"host_organization":"https://openalex.org/P4310312091","host_organization_name":"Brazilian Society of Genetics","host_organization_lineage":["https://openalex.org/P4310312091"],"host_organization_lineage_names":["Brazilian Society of Genetics"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetics and Molecular Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[],"awards":[{"id":"https://openalex.org/G29316538","display_name":null,"funder_award_id":"(Code 001)","funder_id":"https://openalex.org/F4320321091","funder_display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior"}],"funders":[{"id":"https://openalex.org/F4320321091","display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","ror":"https://ror.org/00x0ma614"},{"id":"https://openalex.org/F4320322025","display_name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","ror":"https://ror.org/03swz6y49"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2949540511.pdf","grobid_xml":"https://content.openalex.org/works/W2949540511.grobid-xml"},"referenced_works_count":70,"referenced_works":["https://openalex.org/W49941095","https://openalex.org/W614163208","https://openalex.org/W912843275","https://openalex.org/W1180737757","https://openalex.org/W1516268518","https://openalex.org/W1688441039","https://openalex.org/W1820977370","https://openalex.org/W1875286096","https://openalex.org/W1914571802","https://openalex.org/W1915064881","https://openalex.org/W1974947948","https://openalex.org/W1979673807","https://openalex.org/W2001681406","https://openalex.org/W2004395617","https://openalex.org/W2007803771","https://openalex.org/W2031011172","https://openalex.org/W2039234207","https://openalex.org/W2040073664","https://openalex.org/W2042167657","https://openalex.org/W2042860848","https://openalex.org/W2043288745","https://openalex.org/W2047940580","https://openalex.org/W2052276476","https://openalex.org/W2053009171","https://openalex.org/W2062071367","https://openalex.org/W2064863604","https://openalex.org/W2065033299","https://openalex.org/W2070151232","https://openalex.org/W2071179776","https://openalex.org/W2073675854","https://openalex.org/W2075645966","https://openalex.org/W2086858480","https://openalex.org/W2088872333","https://openalex.org/W2094092896","https://openalex.org/W2095862931","https://openalex.org/W2096648922","https://openalex.org/W2100566384","https://openalex.org/W2103719228","https://openalex.org/W2113592372","https://openalex.org/W2117257456","https://openalex.org/W2117328158","https://openalex.org/W2124856015","https://openalex.org/W2126278820","https://openalex.org/W2129889195","https://openalex.org/W2131270962","https://openalex.org/W2131827606","https://openalex.org/W2132539907","https://openalex.org/W2137768833","https://openalex.org/W2140356752","https://openalex.org/W2145191590","https://openalex.org/W2151483206","https://openalex.org/W2152640411","https://openalex.org/W2153045336","https://openalex.org/W2153340572","https://openalex.org/W2153348841","https://openalex.org/W2155642678","https://openalex.org/W2158762743","https://openalex.org/W2169407232","https://openalex.org/W2380688641","https://openalex.org/W2462279034","https://openalex.org/W2473471990","https://openalex.org/W2518791020","https://openalex.org/W2576842289","https://openalex.org/W2588033460","https://openalex.org/W2754555676","https://openalex.org/W2789678093","https://openalex.org/W2789969727","https://openalex.org/W2801410091","https://openalex.org/W2888748554","https://openalex.org/W4252804806"],"related_works":["https://openalex.org/W2791702529","https://openalex.org/W7036273073","https://openalex.org/W7002375052","https://openalex.org/W3018495683","https://openalex.org/W3120763698","https://openalex.org/W6990997703","https://openalex.org/W2963601175","https://openalex.org/W7061525591","https://openalex.org/W2528587156","https://openalex.org/W7036197195"],"abstract_inverted_index":{"Machado-Joseph":[0],"disease":[1,31],"(SCA3/MJD)":[2],"is":[3],"the":[4,58,64],"most":[5],"common":[6],"spinocerebellar":[7],"ataxia":[8],"worldwide,":[9],"and":[10,60,85,111,120,150,156,173],"particularly":[11],"so":[12],"in":[13,54,88],"Southern":[14],"Brazil.":[15],"Due":[16],"to":[17,37,113,128,163],"an":[18],"expanded":[19],"polyglutamine":[20],"at":[21],"ataxin-3,":[22],"SCA3/MJD":[23,39,89],"presents":[24],"a":[25,45,79],"relentless":[26],"course":[27],"with":[28],"no":[29],"current":[30],"modifying":[32],"treatment.":[33],"Clinical":[34],"scales":[35],"used":[36],"measure":[38],"progression":[40,62],"present":[41,77],"moderate":[42],"effect":[43],"sizes,":[44],"major":[46],"drawback":[47],"for":[48,94,138,191],"their":[49,165],"use":[50],"as":[51],"main":[52],"outcomes":[53],"clinical":[55,109],"trials,":[56],"given":[57],"rarity":[59],"slow":[61],"of":[63,81,144,171,195],"disease.":[65],"This":[66],"limitation":[67],"might":[68],"be":[69,92,129],"overcome":[70],"by":[71,154],"finding":[72],"good":[73,130],"surrogate":[74,192],"markers.":[75],"We":[76,180],"here":[78],"review":[80],"studies":[82,140,162,190],"on":[83,98,106,168],"peripheral":[84,169],"neurophysiological":[86,121],"markers":[87,99],"that":[90,135,182],"can":[91],"candidates":[93,134,185],"state":[95,193],"biomarkers.":[96],"Data":[97,167],"already":[100],"studied":[101],"were":[102,141],"summarized,":[103],"giving":[104],"emphasis":[105],"validation":[107],"against":[108],"scale,":[110],"responsiveness":[112,139],"change.":[114],"While":[115],"some":[116],"biological":[117],"fluid":[118],"compounds":[119],"parameters":[122],"showed":[123],"poor":[124],"responsiveness,":[125],"others":[126],"seemed":[127],"candidates.":[131],"Some":[132],"potential":[133,184],"are":[136,175],"waiting":[137],"serum":[142],"levels":[143,159,170],"neuron":[145],"specific":[146],"enolase,":[147],"vestibulo-ocular":[148],"reflex":[149],"video-oculography.":[151],"Candidates":[152],"evaluated":[153],"RNA":[155],"microRNA":[157],"expression":[158],"need":[160],"further":[161],"improve":[164],"measurements.":[166],"Beclin-1":[172],"DNAJB1":[174],"promising":[176],"but":[177],"still":[178],"incipient.":[179],"conclude":[181],"several":[183],"should":[186],"follow":[187],"onto":[188],"validating":[189],"biomarkers":[194],"SCA3/MJD.":[196]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-06-27T00:00:00"}