{"id":"https://openalex.org/W4290613703","doi":"https://doi.org/10.1038/s41531-022-00358-z","title":"Lack of full sequencing GBA1 studies for patients with Parkinson\u2019s disease in Latin America","display_name":"Lack of full sequencing GBA1 studies for patients with Parkinson\u2019s disease in Latin America","publication_year":2022,"publication_date":"2022-08-08","ids":{"openalex":"https://openalex.org/W4290613703","doi":"https://doi.org/10.1038/s41531-022-00358-z","pmid":"https://pubmed.ncbi.nlm.nih.gov/35941142","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9360049"},"language":"en","primary_location":{"id":"doi:10.1038/s41531-022-00358-z","doi":"https://doi.org/10.1038/s41531-022-00358-z","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41531-022-00358-z","pdf_url":"https://www.nature.com/articles/s41531-022-00358-z.pdf","source":{"id":"https://openalex.org/S2737664142","display_name":"npj Parkinson s Disease","issn_l":"2373-8057","issn":["2373-8057"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Parkinson's Disease","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.nature.com/articles/s41531-022-00358-z.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025108687","display_name":"Bruno Lopes Santos\u2010Lobato","orcid":"https://orcid.org/0000-0001-9321-5710","observed_orcids":["https://orcid.org/0000-0001-9321-5710"]},"institutions":[{"id":"https://openalex.org/I59606676","display_name":"Universidade Federal do Par\u00e1","ror":"https://ror.org/03q9sr818","country_code":"BR","type":"education","lineage":["https://openalex.org/I59606676"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Bruno Lopes Santos-Lobato","raw_affiliation_strings":["Laboratory of Experimental Neuropathology, Federal University of Par\u00e1, Bel\u00e9m, PA, Brazil. bruls4@ufpa.br","Laboratory of Experimental Neuropathology, Federal University of Par\u00e1, Bel\u00e9m, PA, Brazil"],"raw_orcid":"https://orcid.org/0000-0001-9321-5710","affiliations":[{"raw_affiliation_string":"Laboratory of Experimental Neuropathology, Federal University of Par\u00e1, Bel\u00e9m, PA, Brazil. bruls4@ufpa.br","institution_ids":["https://openalex.org/I59606676"]},{"raw_affiliation_string":"Laboratory of Experimental Neuropathology, Federal University of Par\u00e1, Bel\u00e9m, PA, Brazil","institution_ids":["https://openalex.org/I59606676"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055105219","display_name":"Artur Francisco Schumacher Schuh","orcid":"https://orcid.org/0000-0002-8722-0908","observed_orcids":["https://orcid.org/0000-0002-8722-0908"]},"institutions":[{"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":"Artur F. Schumacher-Schuh","raw_affiliation_strings":["Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre, RS, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre, RS, Brazil","institution_ids":["https://openalex.org/I4210097146"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041851834","display_name":"Ignacio Fernandez Mata","orcid":"https://orcid.org/0000-0003-1198-0633","observed_orcids":["https://orcid.org/0000-0003-1198-0633"]},"institutions":[{"id":"https://openalex.org/I1316902750","display_name":"Cleveland Clinic","ror":"https://ror.org/03xjacd83","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1316902750"]},{"id":"https://openalex.org/I4405287411","display_name":"Cleveland Clinic Research","ror":"https://ror.org/053229s83","country_code":"US","type":"facility","lineage":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ignacio F. Mata","raw_affiliation_strings":["Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA"],"raw_orcid":"https://orcid.org/0000-0003-1198-0633","affiliations":[{"raw_affiliation_string":"Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA","institution_ids":["https://openalex.org/I1316902750","https://openalex.org/I4405287411"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5025108687"],"corresponding_institution_ids":["https://openalex.org/I59606676"],"apc_list":{"value":3190,"currency":"USD","value_usd":3190},"apc_paid":{"value":3190,"currency":"USD","value_usd":3190},"fwci":0.7545,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.67195512,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"8","issue":"1","first_page":"101","last_page":"101"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/parkinson-s-disease","display_name":"Parkinson's disease","score":0.953000009059906},{"id":"https://openalex.org/keywords/gba1-gene","display_name":"GBA1 gene","score":0.9509999752044678},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.875},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.5870000123977661},{"id":"https://openalex.org/keywords/variant-prevalence","display_name":"variant prevalence","score":0.777999997138977},{"id":"https://openalex.org/keywords/latin-america","display_name":"Latin America","score":0.9350000023841858},{"id":"https://openalex.org/keywords/access-to-genetic-testing","display_name":"access to genetic testing","score":0.36000001430511475}],"concepts":[{"id":"https://openalex.org/C158886217","wikidata":"https://www.wikidata.org/wiki/Q16799549","display_name":"Latin Americans","level":2,"score":0.8281301259994507},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.5620924830436707},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5185597538948059},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.47737690806388855},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.4547216296195984},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.4160647690296173},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41199982166290283},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34547048807144165},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2896294593811035},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26890072226524353},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21184739470481873},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.13230016827583313},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1038/s41531-022-00358-z","doi":"https://doi.org/10.1038/s41531-022-00358-z","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41531-022-00358-z","pdf_url":"https://www.nature.com/articles/s41531-022-00358-z.pdf","source":{"id":"https://openalex.org/S2737664142","display_name":"npj Parkinson s Disease","issn_l":"2373-8057","issn":["2373-8057"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Parkinson's Disease","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9360049","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9360049","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":"NPJ Parkinsons Dis","raw_type":"Text"},{"id":"pmid:35941142","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35941142","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":"NPJ Parkinson's disease","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:8f76d2e610624ca0844055085699bd1d","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/8f76d2e610624ca0844055085699bd1d","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":"npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-4 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41531-022-00358-z","doi":"https://doi.org/10.1038/s41531-022-00358-z","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41531-022-00358-z","pdf_url":"https://www.nature.com/articles/s41531-022-00358-z.pdf","source":{"id":"https://openalex.org/S2737664142","display_name":"npj Parkinson s Disease","issn_l":"2373-8057","issn":["2373-8057"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","norway-1","oarl","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Parkinson's Disease","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.98580002784729}],"study_designs":[{"id":"https://openalex.org/study-designs/systematic-review","display_name":"Systematic Review"},{"id":"https://openalex.org/study-designs/meta-analysis","display_name":"Meta-Analysis"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4290613703.pdf","grobid_xml":"https://content.openalex.org/works/W4290613703.grobid-xml"},"referenced_works_count":17,"referenced_works":["https://openalex.org/W1535388414","https://openalex.org/W1984663539","https://openalex.org/W1999869057","https://openalex.org/W2054863974","https://openalex.org/W2060424105","https://openalex.org/W2131476886","https://openalex.org/W2134587443","https://openalex.org/W2134977987","https://openalex.org/W2537216498","https://openalex.org/W2794488726","https://openalex.org/W2909662798","https://openalex.org/W2913708613","https://openalex.org/W2917067479","https://openalex.org/W3010896733","https://openalex.org/W3039154300","https://openalex.org/W3173517457","https://openalex.org/W3190123156"],"related_works":["https://openalex.org/W4388292189","https://openalex.org/W4411474591","https://openalex.org/W4390057268","https://openalex.org/W4400984468","https://openalex.org/W4388945739","https://openalex.org/W7047423198","https://openalex.org/W4386366974","https://openalex.org/W2804413306","https://openalex.org/W4389449389","https://openalex.org/W3039154300"],"abstract_inverted_index":{"Full":[0],"sequencing":[1,66],"of":[2,15,22,50,64],"the":[3,23,44,47],"GBA1":[4,52,67],"gene":[5],"in":[6,31,54,57,69],"patients":[7],"with":[8,40],"Parkinson's":[9,55],"disease":[10,56],"provides":[11],"a":[12,37,62],"wide":[13],"screening":[14],"pathogenic":[16],"variants,":[17],"but":[18],"less":[19],"developed":[20],"regions":[21],"world,":[24],"like":[25],"Latin":[26,58,70],"America,":[27],"may":[28],"have":[29],"difficulties":[30],"performing":[32],"full":[33,65],"sequencing.":[34],"We":[35,60],"performed":[36],"systematic":[38],"review":[39],"meta-analysis":[41],"to":[42],"explore":[43],"prevalence":[45],"and":[46],"odds":[48],"ratio":[49],"specific":[51],"variants":[53],"America.":[59,71],"noted":[61],"lack":[63],"studies":[68]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-08-08T00:00:00"}
