{"id":"https://openalex.org/W1711977572","doi":"https://doi.org/10.3233/jad-140891","title":"Somatic Signature of Brain-Specific Single Nucleotide Variations in Sporadic Alzheimer's Disease","display_name":"Somatic Signature of Brain-Specific Single Nucleotide Variations in Sporadic Alzheimer's Disease","publication_year":2014,"publication_date":"2014-10-10","ids":{"openalex":"https://openalex.org/W1711977572","doi":"https://doi.org/10.3233/jad-140891","mag":"1711977572","pmid":"https://pubmed.ncbi.nlm.nih.gov/25024348"},"language":"en","primary_location":{"id":"doi:10.3233/jad-140891","doi":"https://doi.org/10.3233/jad-140891","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jad-140891","pdf_url":"https://content.iospress.com:443/download/journal-of-alzheimers-disease/jad140891?id=journal-of-alzheimers-disease%2Fjad140891","source":{"id":"https://openalex.org/S25155249","display_name":"Journal of Alzheimer s Disease","issn_l":"1387-2877","issn":["1387-2877","1875-8908"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Alzheimer\u2019s Disease","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://content.iospress.com:443/download/journal-of-alzheimers-disease/jad140891?id=journal-of-alzheimers-disease%2Fjad140891","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5050134556","display_name":"Antoni Parcerisas","orcid":"https://orcid.org/0000-0002-3204-9285","observed_orcids":["https://orcid.org/0000-0002-3204-9285"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Antoni Parcerisas","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048110178","display_name":"Sara E. Rubio","orcid":"https://orcid.org/0000-0002-9719-9719","observed_orcids":["https://orcid.org/0000-0002-9719-9719"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sara E. Rubio","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002390369","display_name":"Ashraf Muhaisen","orcid":"https://orcid.org/0000-0001-6831-1508","observed_orcids":["https://orcid.org/0000-0001-6831-1508"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ashraf Muhaisen","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080513801","display_name":"Alberto G\u00f3mez\u2010Ramos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I134820265","display_name":"Consejo Superior de Investigaciones Cient\u00edficas","ror":"https://ror.org/02gfc7t72","country_code":"ES","type":"government","lineage":["https://openalex.org/I134820265"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210146061","display_name":"Centro de Biolog\u00eda Molecular Severo Ochoa","ror":"https://ror.org/03v9e8t09","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I4210146061"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alberto G\u00f3mez-Ramos","raw_affiliation_strings":["Centro de Biolog\u00eda Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain","Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Biolog\u00eda Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain","institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210146061"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010405097","display_name":"Llu\u0131\u0301s Pujadas","orcid":"https://orcid.org/0000-0003-3890-8279","observed_orcids":["https://orcid.org/0000-0003-3890-8279"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Llu\u00eds Pujadas","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010921833","display_name":"Montserrat Puiggr\u00f2s","orcid":"https://orcid.org/0000-0001-5034-7924","observed_orcids":["https://orcid.org/0000-0001-5034-7924"]},"institutions":[{"id":"https://openalex.org/I2799803557","display_name":"Barcelona Supercomputing Center","ror":"https://ror.org/05sd8tv96","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2799803557","https://openalex.org/I9617848"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Montserrat Puiggros","raw_affiliation_strings":["Joint IRB-BSC Program in Computational Biology, Barcelona Supercomputing Center, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Joint IRB-BSC Program in Computational Biology, Barcelona Supercomputing Center, Barcelona, Spain","institution_ids":["https://openalex.org/I2799803557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018873507","display_name":"Daniela Paola Rossi","orcid":"https://orcid.org/0000-0001-9248-0678","observed_orcids":["https://orcid.org/0000-0001-9248-0678"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Daniela Rossi","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052302775","display_name":"Jesus Mariano Ure\u00f1a","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jes\u00fas Ure\u00f1a","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107975235","display_name":"Ferr\u00e1n Burgaya","orcid":"https://orcid.org/0000-0002-6060-1081","observed_orcids":["https://orcid.org/0000-0002-6060-1081"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ferr\u00e1n Burgaya","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069520625","display_name":"Marta Pascual","orcid":"https://orcid.org/0000-0002-2621-650X","observed_orcids":["https://orcid.org/0000-0002-2621-650X"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Marta Pascual","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086109236","display_name":"David Torrents","orcid":"https://orcid.org/0000-0002-6086-9037","observed_orcids":["https://orcid.org/0000-0002-6086-9037"]},"institutions":[{"id":"https://openalex.org/I11932220","display_name":"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats","ror":"https://ror.org/0371hy230","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I11932220"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"David Torrents","raw_affiliation_strings":["Department of Cell Biology, University of Barcelona, Barcelona, Spain","Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats (ICREA), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"Instituci\u00f3 Catalana de Recerca i Estudis Avan\u00e7ats (ICREA), Barcelona, Spain","institution_ids":["https://openalex.org/I11932220"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080613664","display_name":"Alberto R\u00e1bano","orcid":"https://orcid.org/0000-0001-9320-6566","observed_orcids":["https://orcid.org/0000-0001-9320-6566"]},"institutions":[{"id":"https://openalex.org/I4210153858","display_name":"Fundacion Centro De Investigacion De Enfermedades Neurologicas","ror":"https://ror.org/053zwpg96","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210153858"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alberto R\u00e1bano","raw_affiliation_strings":["Fundaci\u00f3n CIEN, Vallecas, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Fundaci\u00f3n CIEN, Vallecas, Madrid, Spain","institution_ids":["https://openalex.org/I4210153858"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100767370","display_name":"Jes\u00fas \u00c1vila","orcid":"https://orcid.org/0000-0002-6288-0571","observed_orcids":["https://orcid.org/0000-0002-6288-0571"]},"institutions":[{"id":"https://openalex.org/I134820265","display_name":"Consejo Superior de Investigaciones Cient\u00edficas","ror":"https://ror.org/02gfc7t72","country_code":"ES","type":"government","lineage":["https://openalex.org/I134820265"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210146061","display_name":"Centro de Biolog\u00eda Molecular Severo Ochoa","ror":"https://ror.org/03v9e8t09","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I4210146061"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jes\u00fas \u00c1vila","raw_affiliation_strings":["Centro de Biolog\u00eda Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain","Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Biolog\u00eda Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain","institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210146061"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107632676","display_name":"Eduardo Soriano","orcid":"https://orcid.org/0000-0001-9260-9291","observed_orcids":["https://orcid.org/0000-0001-9260-9291","https://orcid.org/0000-0002-8240-4126"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086696","display_name":"Biomedical Research Networking Center on Neurodegenerative Diseases","ror":"https://ror.org/00zca7903","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210086696"]},{"id":"https://openalex.org/I4210102407","display_name":"Vall d'Hebron Institut de Recerca","ror":"https://ror.org/01d5vx451","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210102407","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210115082","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red","ror":"https://ror.org/02g87qh62","country_code":"ES","type":"facility","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4210115082","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210153858","display_name":"Fundacion Centro De Investigacion De Enfermedades Neurologicas","ror":"https://ror.org/053zwpg96","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210153858"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Eduardo Soriano","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","Department of Cell Biology, University of Barcelona, Barcelona, Spain","Fundaci\u00f3n CIEN, Vallecas, Madrid, Spain","Vall d'Hebr\u00f3n Institut de Recerca (VHIR), Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas (CIBERNED, ISCIII), Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210115082"]},{"raw_affiliation_string":"Department of Cell Biology, University of Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"Fundaci\u00f3n CIEN, Vallecas, Madrid, Spain","institution_ids":["https://openalex.org/I4210153858"]},{"raw_affiliation_string":"Vall d'Hebr\u00f3n Institut de Recerca (VHIR), Barcelona, Spain","institution_ids":["https://openalex.org/I4210102407"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5107632676"],"corresponding_institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086696","https://openalex.org/I4210102407","https://openalex.org/I4210115082","https://openalex.org/I4210153858","https://openalex.org/I71999127"],"apc_list":null,"apc_paid":null,"fwci":1.7129,"has_fulltext":true,"cited_by_count":44,"citation_normalized_percentile":{"value":0.809695,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"42","issue":"4","first_page":"1357","last_page":"1382"},"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":0.9570000171661377,"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":0.9570000171661377,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.032099999487400055,"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"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0008999999845400453,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/sporadic-alzheimer-s-disease","display_name":"sporadic Alzheimer's disease","score":0.9909999966621399},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.7749999761581421}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5505157709121704},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5458628535270691},{"id":"https://openalex.org/C2777952318","wikidata":"https://www.wikidata.org/wiki/Q583908","display_name":"Vascular dementia","level":4,"score":0.4890342652797699},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.48137858510017395},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.47760745882987976},{"id":"https://openalex.org/C134305767","wikidata":"https://www.wikidata.org/wiki/Q725508","display_name":"Somatic cell","level":3,"score":0.458121657371521},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.45251113176345825},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.4339072108268738},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43113693594932556},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.39423853158950806},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.370914101600647},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3336194157600403},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3027440905570984},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2500078082084656},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1238161027431488}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006624","descriptor_name":"Hippocampus","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D015140","descriptor_name":"Dementia, Vascular","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015140","descriptor_name":"Dementia, Vascular","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.3233/jad-140891","doi":"https://doi.org/10.3233/jad-140891","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jad-140891","pdf_url":"https://content.iospress.com:443/download/journal-of-alzheimers-disease/jad140891?id=journal-of-alzheimers-disease%2Fjad140891","source":{"id":"https://openalex.org/S25155249","display_name":"Journal of Alzheimer s Disease","issn_l":"1387-2877","issn":["1387-2877","1875-8908"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Alzheimer\u2019s Disease","raw_type":"journal-article"},{"id":"pmid:25024348","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25024348","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":"Journal of Alzheimer's disease : JAD","raw_type":"Journal Article"},{"id":"pmh:oai:digital.csic.es:10261/252594","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/10261/252594","pdf_url":null,"source":{"id":"https://openalex.org/S4306400616","display_name":"DIGITAL.CSIC (Spanish National Research Council (CSIC))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I134820265","host_organization_name":"Consejo Superior de Investigaciones Cient\u00edficas","host_organization_lineage":["https://openalex.org/I134820265"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"http://purl.org/coar/resource_type/c_6501"}],"best_oa_location":{"id":"doi:10.3233/jad-140891","doi":"https://doi.org/10.3233/jad-140891","is_oa":true,"landing_page_url":"https://doi.org/10.3233/jad-140891","pdf_url":"https://content.iospress.com:443/download/journal-of-alzheimers-disease/jad140891?id=journal-of-alzheimers-disease%2Fjad140891","source":{"id":"https://openalex.org/S25155249","display_name":"Journal of Alzheimer s Disease","issn_l":"1387-2877","issn":["1387-2877","1875-8908"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Alzheimer\u2019s 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/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309764","display_name":"Fundaci\u00f3n BBVA","ror":"https://ror.org/01jzs3b90"},{"id":"https://openalex.org/F4320322930","display_name":"Ministerio de Ciencia e Innovaci\u00f3n","ror":null},{"id":"https://openalex.org/F4320323113","display_name":"Banco Bilbao Vizcaya Argentaria","ror":"https://ror.org/0537dnd74"},{"id":"https://openalex.org/F4320323823","display_name":"Universidad de Oviedo","ror":"https://ror.org/006gksa02"},{"id":"https://openalex.org/F4320328990","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Neurodegenerativas","ror":"https://ror.org/00zca7903"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1711977572.pdf","grobid_xml":"https://content.openalex.org/works/W1711977572.grobid-xml"},"referenced_works_count":127,"referenced_works":["https://openalex.org/W7362354","https://openalex.org/W1551910894","https://openalex.org/W1592698849","https://openalex.org/W1741842320","https://openalex.org/W1964358779","https://openalex.org/W1965841865","https://openalex.org/W1967347174","https://openalex.org/W1969271586","https://openalex.org/W1972094490","https://openalex.org/W1972800689","https://openalex.org/W1972853058","https://openalex.org/W1973130216","https://openalex.org/W1973379076","https://openalex.org/W1973732693","https://openalex.org/W1974103256","https://openalex.org/W1974775932","https://openalex.org/W1979369962","https://openalex.org/W1980030035","https://openalex.org/W1984643176","https://openalex.org/W1984849799","https://openalex.org/W1987349361","https://openalex.org/W1987824870","https://openalex.org/W1988402743","https://openalex.org/W1993355130","https://openalex.org/W1994797655","https://openalex.org/W1996638736","https://openalex.org/W2001868056","https://openalex.org/W2003617461","https://openalex.org/W2006270268","https://openalex.org/W2006649304","https://openalex.org/W2008552970","https://openalex.org/W2008917847","https://openalex.org/W2011067807","https://openalex.org/W2013471403","https://openalex.org/W2013482405","https://openalex.org/W2019974241","https://openalex.org/W2020021386","https://openalex.org/W2021181758","https://openalex.org/W2028372123","https://openalex.org/W2030592724","https://openalex.org/W2032679533","https://openalex.org/W2033151584","https://openalex.org/W2036149449","https://openalex.org/W2042086471","https://openalex.org/W2044544988","https://openalex.org/W2044681105","https://openalex.org/W2045584862","https://openalex.org/W2046369546","https://openalex.org/W2046526373","https://openalex.org/W2050381311","https://openalex.org/W2050398469","https://openalex.org/W2051196937","https://openalex.org/W2051219434","https://openalex.org/W2053365501","https://openalex.org/W2053873922","https://openalex.org/W2056524260","https://openalex.org/W2058253080","https://openalex.org/W2058798095","https://openalex.org/W2059831889","https://openalex.org/W2059835894","https://openalex.org/W2061185367","https://openalex.org/W2064251339","https://openalex.org/W2065541571","https://openalex.org/W2066179547","https://openalex.org/W2066541341","https://openalex.org/W2067236154","https://openalex.org/W2071640547","https://openalex.org/W2079873327","https://openalex.org/W2081262588","https://openalex.org/W2081596026","https://openalex.org/W2082122713","https://openalex.org/W2086840280","https://openalex.org/W2088022023","https://openalex.org/W2088470456","https://openalex.org/W2089038479","https://openalex.org/W2089135389","https://openalex.org/W2090763216","https://openalex.org/W2091091750","https://openalex.org/W2103649136","https://openalex.org/W2105674416","https://openalex.org/W2109460976","https://openalex.org/W2111145604","https://openalex.org/W2112159040","https://openalex.org/W2113747602","https://openalex.org/W2115779804","https://openalex.org/W2117588878","https://openalex.org/W2119180969","https://openalex.org/W2119442942","https://openalex.org/W2121637291","https://openalex.org/W2122732537","https://openalex.org/W2123490990","https://openalex.org/W2124490243","https://openalex.org/W2126490661","https://openalex.org/W2127003470","https://openalex.org/W2127640118","https://openalex.org/W2128792045","https://openalex.org/W2132854901","https://openalex.org/W2136520115","https://openalex.org/W2136936410","https://openalex.org/W2138198688","https://openalex.org/W2141104259","https://openalex.org/W2141923548","https://openalex.org/W2142111039","https://openalex.org/W2143523145","https://openalex.org/W2145835880","https://openalex.org/W2147841875","https://openalex.org/W2149164514","https://openalex.org/W2153852650","https://openalex.org/W2154588429","https://openalex.org/W2155048015","https://openalex.org/W2162988145","https://openalex.org/W2166349141","https://openalex.org/W2166483453","https://openalex.org/W2166793056","https://openalex.org/W2166966137","https://openalex.org/W2168133698","https://openalex.org/W2168458391","https://openalex.org/W2168909179","https://openalex.org/W2169263096","https://openalex.org/W2170476464","https://openalex.org/W2171402579","https://openalex.org/W2404182534","https://openalex.org/W2406593706","https://openalex.org/W2916083703","https://openalex.org/W4247053599","https://openalex.org/W4401148781","https://openalex.org/W7098836794"],"related_works":["https://openalex.org/W3184837343","https://openalex.org/W2289834667","https://openalex.org/W4312088508","https://openalex.org/W7221535230","https://openalex.org/W2941025253","https://openalex.org/W4411397710","https://openalex.org/W2335023020","https://openalex.org/W4406050676","https://openalex.org/W4386752925","https://openalex.org/W2039129526"],"abstract_inverted_index":{"BACKGROUND:":[0],"Although":[1],"genome-wide":[2],"association":[3],"studies":[4],"have":[5,206],"shown":[6],"that":[7,95,201,212],"genetic":[8,214],"factors":[9],"increase":[10],"the":[11,20,31,36,46,122,182,192],"risk":[12],"of":[13,30,38,48,87,121,126,184,194],"suffering":[14],"late-onset,":[15],"sporadic":[16],"Alzheimer's":[17],"disease":[18],"(SAD),":[19],"molecular":[21],"mechanisms":[22],"responsible":[23],"remain":[24],"largely":[25],"unknown.":[26],"OBJECTIVE:":[27],"The":[28,148],"aim":[29],"study":[32],"was":[33],"to":[34,107,134,146,171,222],"investigate":[35],"presence":[37],"somatic,":[39],"brain-specific":[40,217],"single":[41],"nucleotide":[42],"variations":[43],"(SNV)":[44],"in":[45,61,89,99,115,130,142,181,191],"hippocampus":[47,183],"SAD":[49,70,90,135,173,195,223],"samples.":[50],"METHODS:":[51],"By":[52],"using":[53],"bioinformatic":[54],"tools,":[55],"we":[56],"compared":[57],"whole":[58],"exome":[59],"sequences":[60],"paired":[62],"blood":[63,203],"and":[64,72,76,162,204,211,216,225],"hippocampal":[65],"genomic":[66,209],"DNAs":[67],"from":[68,73],"17":[69],"patients":[71,119],"2":[74,77],"controls":[75],"vascular":[78,187],"dementia":[79,188],"patients.":[80,174,196],"RESULTS:":[81],"We":[82],"found":[83],"a":[84],"remarkable":[85],"number":[86],"SNVs":[88,128],"brains":[91],"(~575":[92],"per":[93],"patient)":[94],"were":[96,105,129,154,169,179],"not":[97],"detected":[98],"blood.":[100],"Loci":[101],"with":[102,110,152,156],"hippocampus-specific":[103],"(hs)-SNVs":[104],"common":[106,170],"several":[108],"patients,":[109],"38":[111],"genes":[112,131,151],"being":[113],"present":[114],"6":[116],"or":[117,177,186,190],"more":[118],"out":[120],"17.":[123],"While":[124],"some":[125],"these":[127],"previously":[132,144],"related":[133],"(e.g.,":[136],"CSMD1,":[137],"LRP2),":[138],"most":[139,149],"hs-SNVs":[140,153,168,178],"occurred":[141],"loci":[143,176],"unrelated":[145],"SAD.":[147],"frequent":[150],"associated":[155],"neurotransmission,":[157],"DNA":[158,208],"metabolism,":[159],"neuronal":[160],"transport,":[161],"muscular":[163],"function.":[164],"Interestingly,":[165],"19":[166],"recurrent":[167],"3":[172],"Repetitive":[175],"underrepresented":[180],"control":[185],"donors,":[189],"cerebellum":[193],"CONCLUSION:":[197],"Our":[198],"data":[199],"suggest":[200],"adult":[202],"brain":[205],"different":[207],"variations,":[210],"somatic":[213],"mosaicism":[215],"genome":[218],"reshaping":[219],"may":[220],"contribute":[221],"pathogenesis":[224],"cognitive":[226],"differences":[227],"between":[228],"individuals.":[229]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}