{"id":"https://openalex.org/W1972028678","doi":"https://doi.org/10.1016/j.jalz.2013.09.005","title":"Origin of the PSEN1 E280A mutation causing early\u2010onset Alzheimer's disease","display_name":"Origin of the PSEN1 E280A mutation causing early\u2010onset Alzheimer's disease","publication_year":2013,"publication_date":"2013-11-13","ids":{"openalex":"https://openalex.org/W1972028678","doi":"https://doi.org/10.1016/j.jalz.2013.09.005","mag":"1972028678","pmid":"https://pubmed.ncbi.nlm.nih.gov/24239249","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4019728"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2013.09.005","doi":"https://doi.org/10.1016/j.jalz.2013.09.005","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2013.09.005","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://hdl.handle.net/10495/39585","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003764104","display_name":"Matthew A. Lalli","orcid":"https://orcid.org/0000-0003-0419-1206","observed_orcids":["https://orcid.org/0000-0003-0419-1206"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew A. Lalli","raw_affiliation_strings":["Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088012985","display_name":"Hannah C. Cox","orcid":"https://orcid.org/0000-0002-1798-796X","observed_orcids":["https://orcid.org/0000-0002-1798-796X"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hannah C. Cox","raw_affiliation_strings":["Institute for Systems Biology, Seattle, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Systems Biology, Seattle, WA, USA","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108134731","display_name":"Mary Luz Arcila","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary L. Arcila","raw_affiliation_strings":["Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004124243","display_name":"Liliana Cadavid","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Liliana Cadavid","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA","institution_ids":["https://openalex.org/I35961687"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Sonia Moreno","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Sonia Moreno","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA","institution_ids":["https://openalex.org/I35961687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112133779","display_name":"Gloria Garc\u00eda","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Gloria Garcia","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA","institution_ids":["https://openalex.org/I35961687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105217999","display_name":"Luc\u00eda Madrigal","orcid":"https://orcid.org/0000-0003-0241-4947","observed_orcids":["https://orcid.org/0000-0003-0241-4947"]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Lucia Madrigal","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA","institution_ids":["https://openalex.org/I35961687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047768726","display_name":"Eric M. Reiman","orcid":"https://orcid.org/0000-0002-0705-3696","observed_orcids":["https://orcid.org/0000-0002-0705-3696"]},"institutions":[{"id":"https://openalex.org/I4387152203","display_name":"Banner Alzheimer\u2019s Institute","ror":"https://ror.org/023jwkg52","country_code":"US","type":"facility","lineage":["https://openalex.org/I2802412784","https://openalex.org/I4387152203"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eric M. Reiman","raw_affiliation_strings":["Banner Alzheimer's Institute, Phoenix, AZ, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Banner Alzheimer's Institute, Phoenix, AZ, USA","institution_ids":["https://openalex.org/I4387152203"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015040602","display_name":"Mauricio Arcos\u2010Burgos","orcid":"https://orcid.org/0000-0002-8529-0574","observed_orcids":["https://orcid.org/0000-0002-8529-0574"]},"institutions":[{"id":"https://openalex.org/I118347636","display_name":"Australian National University","ror":"https://ror.org/019wvm592","country_code":"AU","type":"education","lineage":["https://openalex.org/I118347636"]},{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["AU","CO"],"is_corresponding":false,"raw_author_name":"Mauricio Arcos\u2010Burgos","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Translational Genomics Group, Genome Biology Department, John Curtin School of Medical Research, ANU College of Medicine, Biology and Environment, The Australian National University, Canberra, ACT, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Translational Genomics Group, Genome Biology Department, John Curtin School of Medical Research, ANU College of Medicine, Biology and Environment, The Australian National University, Canberra, ACT, Australia","institution_ids":["https://openalex.org/I118347636"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008702983","display_name":"Gabriel Bedoya","orcid":"https://orcid.org/0000-0002-4820-6679","observed_orcids":["https://orcid.org/0000-0002-4820-6679"]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Gabriel Bedoya","raw_affiliation_strings":["Grupo de Genetica Molecular (GENMOL) Universidad de Antioquia Medell\u00edn Colombia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Genetica Molecular (GENMOL) Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072638080","display_name":"Mary E. Brunkow","orcid":"https://orcid.org/0009-0005-0087-4343","observed_orcids":["https://orcid.org/0009-0005-0087-4343"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary E. Brunkow","raw_affiliation_strings":["Institute for Systems Biology, Seattle, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Systems Biology, Seattle, WA, USA","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007279155","display_name":"Gustavo Glusman","orcid":"https://orcid.org/0000-0001-8060-5955","observed_orcids":["https://orcid.org/0000-0001-8060-5955"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gustavo Glusman","raw_affiliation_strings":["Institute for Systems Biology, Seattle, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Systems Biology, Seattle, WA, USA","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023566803","display_name":"Jared C. Roach","orcid":"https://orcid.org/0000-0003-4524-0107","observed_orcids":["https://orcid.org/0000-0003-4524-0107","https://orcid.org/0000-0003-3073-9212"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jared C. Roach","raw_affiliation_strings":["Institute for Systems Biology, Seattle, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Systems Biology, Seattle, WA, USA","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085306431","display_name":"Leroy Hood","orcid":"https://orcid.org/0000-0001-7158-3678","observed_orcids":["https://orcid.org/0000-0001-7158-3678","https://orcid.org/0000-0002-4157-0267"]},"institutions":[{"id":"https://openalex.org/I3148997608","display_name":"Institute for Systems Biology","ror":"https://ror.org/02tpgw303","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I3148997608"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Leroy Hood","raw_affiliation_strings":["Institute for Systems Biology, Seattle, WA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Systems Biology, Seattle, WA, USA","institution_ids":["https://openalex.org/I3148997608"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016853030","display_name":"Kenneth S. Kosik","orcid":"https://orcid.org/0000-0003-3224-5179","observed_orcids":["https://orcid.org/0000-0003-3224-5179"]},"institutions":[{"id":"https://openalex.org/I154570441","display_name":"University of California, Santa Barbara","ror":"https://ror.org/02t274463","country_code":"US","type":"education","lineage":["https://openalex.org/I154570441"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kenneth S. Kosik","raw_affiliation_strings":["Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuroscience Research Institute, Department of Molecular Cellular Developmental Biology, University of California, Santa Barbara, CA, USA","institution_ids":["https://openalex.org/I154570441"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024744959","display_name":"Francisco Javier Lopera","orcid":"https://orcid.org/0000-0003-3986-1484","observed_orcids":["https://orcid.org/0000-0003-3986-1484","https://orcid.org/0000-0002-5238-0231","https://orcid.org/0000-0001-9714-8244"]},"institutions":[{"id":"https://openalex.org/I35961687","display_name":"Universidad de Antioquia","ror":"https://ror.org/03bp5hc83","country_code":"CO","type":"education","lineage":["https://openalex.org/I35961687"]}],"countries":["CO"],"is_corresponding":false,"raw_author_name":"Francisco Lopera","raw_affiliation_strings":["Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Grupo de Neurociencias de, Antioquia, Universidad de Antioquia Medell\u00edn Colombia","institution_ids":["https://openalex.org/I35961687"]},{"raw_affiliation_string":"Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, COLOMBIA","institution_ids":["https://openalex.org/I35961687"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5016853030"],"corresponding_institution_ids":["https://openalex.org/I154570441"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":1.2415,"has_fulltext":false,"cited_by_count":62,"citation_normalized_percentile":{"value":0.72772392,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"10","issue":"5S","first_page":"S277","last_page":"S283.e10"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9204000234603882,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9204000234603882,"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/T10751","display_name":"Forensic and Genetic Research","score":0.033799998462200165,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.016300000250339508,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/psen1-e280a-mutation","display_name":"PSEN1 E280A mutation","score":0.9440000057220459},{"id":"https://openalex.org/keywords/early-onset-alzheimer-s-disease","display_name":"early-onset Alzheimer's disease","score":0.9769999980926514}],"concepts":[{"id":"https://openalex.org/C2781340033","wikidata":"https://www.wikidata.org/wiki/Q5326566","display_name":"Early-onset Alzheimer's disease","level":4,"score":0.7083065509796143},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.613061249256134},{"id":"https://openalex.org/C2776485563","wikidata":"https://www.wikidata.org/wiki/Q18253272","display_name":"PSEN1","level":5,"score":0.5906445384025574},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5182949900627136},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.49737194180488586},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4176861643791199},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3683992624282837},{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.3502764105796814},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32862725853919983},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1533387005329132},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.06509482860565186}],"mesh":[{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003105","descriptor_name":"Colombia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D040582","descriptor_name":"Inheritance Patterns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":10,"locations":[{"id":"doi:10.1016/j.jalz.2013.09.005","doi":"https://doi.org/10.1016/j.jalz.2013.09.005","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2013.09.005","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},{"id":"pmid:24239249","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24239249","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":"Alzheimer's & dementia : the journal of the Alzheimer's Association","raw_type":"Journal Article"},{"id":"pmh:oai:bibliotecadigital.udea.edu.co:10495/39585","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/10495/39585","pdf_url":null,"source":{"id":"https://openalex.org/S4377196334","display_name":"Institutional Repository University of Antioquia (University of Antioquia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I35961687","host_organization_name":"Universidad de Antioquia","host_organization_lineage":["https://openalex.org/I35961687"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4019728","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4019728/","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":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Alzheimers Dement","raw_type":"Text"},{"id":"pmh:oai:openresearch-repository.anu.edu.au:1885/23085","doi":null,"is_oa":false,"landing_page_url":"https://openresearch-repository.anu.edu.au/bitstreams/e10fa93f-cd26-416f-9b7f-3e8fa4b09d72/download","pdf_url":null,"source":{"id":"https://openalex.org/S4306402539","display_name":"ANU Open Research (Australian National University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I118347636","host_organization_name":"Australian National University","host_organization_lineage":["https://openalex.org/I118347636"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Alzheimer's & Dementia","raw_type":"Journal article"},{"id":"pmh:oai:escholarship.org/ark:/13030/qt38x6n9nf","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/38x6n9nf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Alzheimer's &amp; dementia : the journal of the Alzheimer's Association, vol 10, iss 5 Suppl","raw_type":"article"},{"id":"pmh:oai:escholarship.org:ark:/13030/qt38x6n9nf","doi":null,"is_oa":false,"landing_page_url":"https://escholarship.org/uc/item/38x6n9nf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Alzheimer's & Dementia, vol 10, iss 5 Suppl","raw_type":"article"},{"id":"pmh:oai:openresearch-repository.anu.edu.au:1885/79172","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/1885/79172","pdf_url":null,"source":{"id":"https://openalex.org/S4306402539","display_name":"ANU Open Research (Australian National University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I118347636","host_organization_name":"Australian National University","host_organization_lineage":["https://openalex.org/I118347636"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Revista de Neurologia","raw_type":"Journal article"},{"id":"pmh:oai:repositorio.accefyn.org.co:001/3777","doi":null,"is_oa":false,"landing_page_url":"https://repositorio.accefyn.org.co/handle/001/3777","pdf_url":null,"source":{"id":"https://openalex.org/S7407055250","display_name":"Repositorio Digital - Academia Colombiana de Ciencias Exactas, Fisicas y Naturales","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"http://purl.org/coar/resource_type/c_6501"},{"id":"pmh:qt38x6n9nf","doi":null,"is_oa":false,"landing_page_url":"http://www.escholarship.org/uc/item/38x6n9nf","pdf_url":null,"source":{"id":"https://openalex.org/S4306400115","display_name":"eScholarship (California Digital Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801248553","host_organization_name":"California Digital Library","host_organization_lineage":["https://openalex.org/I2801248553"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Lalli, MA; Cox, HC; Arcila, ML; Cadavid, L; Moreno, S; Garcia, G; \u00c2\u00a0et al.(2014). Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. Alzheimer's and Dementia, 10(5), S277 - S283. doi: 10.1016/j.jalz.2013.09.005. UC Santa Barbara: Retrieved from: http://www.escholarship.org/uc/item/38x6n9nf","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:bibliotecadigital.udea.edu.co:10495/39585","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/10495/39585","pdf_url":null,"source":{"id":"https://openalex.org/S4377196334","display_name":"Institutional Repository University of Antioquia (University of Antioquia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I35961687","host_organization_name":"Universidad de Antioquia","host_organization_lineage":["https://openalex.org/I35961687"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2237272187","display_name":"Development of RNAi as Treatment for Neurodegeneration","funder_award_id":"R01AG029802","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320312905","display_name":"Errett Fisher Foundation","ror":"https://ror.org/01g7dd235"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W1973950074","https://openalex.org/W1978116054","https://openalex.org/W1983391166","https://openalex.org/W1986597456","https://openalex.org/W2006388062","https://openalex.org/W2016716898","https://openalex.org/W2022177992","https://openalex.org/W2022905671","https://openalex.org/W2035786794","https://openalex.org/W2045263764","https://openalex.org/W2060164680","https://openalex.org/W2078571392","https://openalex.org/W2101077392","https://openalex.org/W2109641307","https://openalex.org/W2110985141","https://openalex.org/W2119279196","https://openalex.org/W2122052552","https://openalex.org/W2135881136","https://openalex.org/W2141042406","https://openalex.org/W2146535845","https://openalex.org/W2166214412","https://openalex.org/W2168142506","https://openalex.org/W2488375007","https://openalex.org/W2498512516","https://openalex.org/W3184455502","https://openalex.org/W4300196896"],"related_works":["https://openalex.org/W7099266378","https://openalex.org/W1989240721","https://openalex.org/W7132318037","https://openalex.org/W2110985141","https://openalex.org/W4360601157","https://openalex.org/W101011049","https://openalex.org/W2087244450","https://openalex.org/W7132479501","https://openalex.org/W7132334647","https://openalex.org/W2056614031"],"abstract_inverted_index":{"BACKGROUND:":[0],"A":[1],"mutation":[2,16,49,96],"in":[3],"presenilin":[4],"1":[5],"(E280A)":[6],"causes":[7],"early-onset":[8],"Alzheimer's":[9],"disease.":[10],"Understanding":[11],"the":[12,24,44,47,51,55,93,114,133,136,144],"origin":[13,112,122],"of":[14,26,39,46,54,68,82,84,113,123,135],"this":[15,58],"will":[17],"inform":[18],"medical":[19],"genetics.":[20],"METHODS:":[21],"We":[22,32,42,73,91,106],"sequenced":[23],"genomes":[25],"102":[27],"individuals":[28,63],"from":[29,132],"Antioquia,":[30],"Colombia.":[31],"applied":[33],"identity-by-descent":[34],"analysis":[35],"to":[36,77,98],"identify":[37],"regions":[38],"common":[40,80],"ancestry.":[41],"estimated":[43],"age":[45,119],"E280A":[48,83,124],"and":[50,120],"local":[52],"ancestry":[53],"haplotype":[56,67],"harboring":[57],"mutation.":[59],"RESULTS:":[60],"All":[61],"affected":[62],"share":[64],"a":[65,75,108,128],"minimal":[66],"1.8":[69],"Mb":[70],"containing":[71],"E280A.":[72],"estimate":[74],"time":[76,134],"most":[78],"recent":[79],"ancestor":[81],"10":[85],"(95%":[86,100],"credible":[87,101],"interval,":[88,102],"7.2-12.6)":[89],"generations.":[90],"date":[92],"de":[94],"novo":[95],"event":[97],"15":[99],"11-25)":[103],"generations":[104],"ago.":[105],"infer":[107],"western":[109],"European":[110],"geographic":[111,121],"shared":[115],"haplotype.":[116],"CONCLUSIONS:":[117],"The":[118],"are":[125],"consistent":[126],"with":[127],"single":[129],"founder":[130],"dating":[131],"Spanish":[137],"Conquistadors":[138],"who":[139],"began":[140],"colonizing":[141],"Colombia":[142],"during":[143],"early":[145],"16th":[146],"century.":[147]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":8},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}
