{"id":"https://openalex.org/W2146453228","doi":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","title":"Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease","display_name":"Investigating the role of rare coding variability in Mendelian dementia genes ( APP , PSEN1 , PSEN2 , GRN , MAPT , and PRNP ) in late-onset Alzheimer's disease","publication_year":2014,"publication_date":"2014-06-16","ids":{"openalex":"https://openalex.org/W2146453228","doi":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","mag":"2146453228","pmid":"https://pubmed.ncbi.nlm.nih.gov/25104557","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4236585"},"language":"en","primary_location":{"id":"doi:10.1016/j.neurobiolaging.2014.06.002","doi":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S0197458014004035/pdf","source":{"id":"https://openalex.org/S284573","display_name":"Neurobiology of Aging","issn_l":"0197-4580","issn":["0197-4580","1558-1497"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurobiology of Aging","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.sciencedirect.com/science/article/pii/S0197458014004035/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5045681063","display_name":"Celeste Sassi","orcid":"https://orcid.org/0000-0002-2837-1765","observed_orcids":["https://orcid.org/0000-0002-2837-1765"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210136897","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210136897"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","US"],"is_corresponding":true,"raw_author_name":"Celeste Sassi","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: celeste.sassi.10@ucl.ac.uk","Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: celeste.sassi.10@ucl.ac.uk","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002376486","display_name":"Rita Jo\u00e3o Guerreiro","orcid":"https://orcid.org/0000-0001-5879-3486","observed_orcids":["https://orcid.org/0000-0001-5879-3486"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210136897","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210136897"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Rita Guerreiro","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005340246","display_name":"Jesse Raphael Gibbs","orcid":"https://orcid.org/0000-0002-6985-0658","observed_orcids":["https://orcid.org/0000-0002-6985-0658"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210136897","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210136897"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Raphael Gibbs","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063736296","display_name":"Jinhui Ding","orcid":"https://orcid.org/0000-0002-4691-4524","observed_orcids":["https://orcid.org/0000-0002-4691-4524"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210136897","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jinhui Ding","raw_affiliation_strings":["Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017531759","display_name":"Michelle K. Lupton","orcid":"https://orcid.org/0000-0002-7274-7299","observed_orcids":["https://orcid.org/0000-0002-7274-7299"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michelle K. Lupton","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029095625","display_name":"Claire Troakes","orcid":"https://orcid.org/0000-0002-1790-7376","observed_orcids":["https://orcid.org/0000-0002-1790-7376"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Claire Troakes","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011302176","display_name":"Safa Al\u2010Sarraj","orcid":"https://orcid.org/0000-0002-6783-3571","observed_orcids":["https://orcid.org/0000-0002-6783-3571"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Safa Al-Sarraj","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080148088","display_name":"Michael Niblock","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael Niblock","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000847257","display_name":"Jean\u2010Marc Gallo","orcid":"https://orcid.org/0000-0003-0214-4545","observed_orcids":["https://orcid.org/0000-0003-0214-4545"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jean-Marc Gallo","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031524373","display_name":"Jihad Adnan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jihad Adnan","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091904097","display_name":"Richard Killick","orcid":"https://orcid.org/0000-0002-8815-3436","observed_orcids":["https://orcid.org/0000-0002-8815-3436"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Richard Killick","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108084940","display_name":"Kristelle S. Brown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kristelle S. Brown","raw_affiliation_strings":["Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107839633","display_name":"Christopher Medway","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Christopher Medway","raw_affiliation_strings":["Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013259227","display_name":"Jenny Lord","orcid":"https://orcid.org/0000-0002-0539-9343","observed_orcids":["https://orcid.org/0000-0002-0539-9343","https://orcid.org/0000-0003-3217-4833"]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jenny Lord","raw_affiliation_strings":["Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011954398","display_name":"James C. Turton","orcid":"https://orcid.org/0000-0003-2681-0477","observed_orcids":["https://orcid.org/0000-0003-2681-0477"]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"James Turton","raw_affiliation_strings":["Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074083478","display_name":"Jos\u00e9 Br\u00e1s","orcid":"https://orcid.org/0000-0001-8186-0333","observed_orcids":["https://orcid.org/0000-0001-8186-0333"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jose Bras","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047373823","display_name":"Kevin Morgan","orcid":"https://orcid.org/0000-0002-8217-2396","observed_orcids":["https://orcid.org/0000-0002-8217-2396"]},"institutions":[{"id":"https://openalex.org/I142263535","display_name":"University of Nottingham","ror":"https://ror.org/01ee9ar58","country_code":"GB","type":"education","lineage":["https://openalex.org/I142263535"]},{"id":"https://openalex.org/I4210137227","display_name":"Queen's Medical Centre","ror":"https://ror.org/03ap6wx93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468","https://openalex.org/I4210137227"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kevin Morgan","raw_affiliation_strings":["Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Translation Cell Sciences-Human Genetics, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK","institution_ids":["https://openalex.org/I142263535","https://openalex.org/I4210137227"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011932191","display_name":"John F. Powell","orcid":"https://orcid.org/0000-0001-6124-439X","observed_orcids":["https://orcid.org/0000-0001-6124-439X"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John F. Powell","raw_affiliation_strings":["King's College London Institute of Psychiatry, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"King's College London Institute of Psychiatry, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100694605","display_name":"Andrew Singleton","orcid":"https://orcid.org/0000-0001-5606-700X","observed_orcids":["https://orcid.org/0000-0001-5606-700X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210136897","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Singleton","raw_affiliation_strings":["Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5045681063"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210136897","https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":{"value":2400,"currency":"EUR","value_usd":2588},"fwci":4.9823,"has_fulltext":true,"cited_by_count":66,"citation_normalized_percentile":{"value":0.95904387,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":99},"biblio":{"volume":"35","issue":"12","first_page":"2881.e1","last_page":"2881.e6"},"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":0.9829000234603882,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9829000234603882,"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/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"}},{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/late-onset-alzheimer-s-disease","display_name":"late-onset Alzheimer's disease","score":0.9760000109672546},{"id":"https://openalex.org/keywords/rare-coding-variants","display_name":"rare coding variants","score":0.9190000295639038},{"id":"https://openalex.org/keywords/app","display_name":"APP","score":0.8410000205039978},{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.996999979019165},{"id":"https://openalex.org/keywords/psen2","display_name":"presenilin 2","score":1.0},{"id":"https://openalex.org/keywords/gene-regulatory-networks","display_name":"gene regulatory networks","score":0.9950000047683716},{"id":"https://openalex.org/keywords/mapt","display_name":"MAPT","score":1.0},{"id":"https://openalex.org/keywords/prnp","display_name":"prion protein gene","score":1.0},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.7940000295639038},{"id":"https://openalex.org/keywords/neurodegenerative-dementia","display_name":"neurodegenerative dementia","score":0.7960000038146973},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.6269999742507935},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.9070000052452087}],"concepts":[{"id":"https://openalex.org/C2776485563","wikidata":"https://www.wikidata.org/wiki/Q18253272","display_name":"PSEN1","level":5,"score":0.9341989159584045},{"id":"https://openalex.org/C2778147599","wikidata":"https://www.wikidata.org/wiki/Q14881255","display_name":"PRNP","level":4,"score":0.7597043514251709},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.6446678042411804},{"id":"https://openalex.org/C2776936178","wikidata":"https://www.wikidata.org/wiki/Q1755684","display_name":"Corticobasal degeneration","level":4,"score":0.6223954558372498},{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.6116237044334412},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5743523240089417},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.47393184900283813},{"id":"https://openalex.org/C2776939681","wikidata":"https://www.wikidata.org/wiki/Q18579","display_name":"Frontotemporal lobar degeneration","level":5,"score":0.42468249797821045},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.41425493359565735},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3757062554359436},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35622572898864746},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3455321788787842},{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.3392365276813507},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.32436227798461914},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27220022678375244},{"id":"https://openalex.org/C3019804061","wikidata":"https://www.wikidata.org/wiki/Q14881255","display_name":"Prion protein","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000072002","descriptor_name":"Prion Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077153","descriptor_name":"Progranulins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"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":"D011328","descriptor_name":"Prions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016564","descriptor_name":"Amyloid beta-Protein Precursor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D036341","descriptor_name":"Intercellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053766","descriptor_name":"Presenilin-2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1016/j.neurobiolaging.2014.06.002","doi":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S0197458014004035/pdf","source":{"id":"https://openalex.org/S284573","display_name":"Neurobiology of Aging","issn_l":"0197-4580","issn":["0197-4580","1558-1497"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurobiology of Aging","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3214225","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4236585","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4236585","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4236585","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":"Neurobiol Aging","raw_type":"Text"},{"id":"pmid:25104557","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25104557","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":"Neurobiology of aging","raw_type":"Journal Article"},{"id":"pmh:oai:kclpure.kcl.ac.uk:openaire/6cd425c2-a16a-4c11-898b-97ffe440bd3e","doi":null,"is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/6cd425c2-a16a-4c11-898b-97ffe440bd3e","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1437467","doi":null,"is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/1437467/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neurobiology of Aging , 35 (12) 2881.e1-2881.e6. (2014)","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1016/j.neurobiolaging.2014.06.002","doi":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.neurobiolaging.2014.06.002","pdf_url":"https://www.sciencedirect.com/science/article/pii/S0197458014004035/pdf","source":{"id":"https://openalex.org/S284573","display_name":"Neurobiology of Aging","issn_l":"0197-4580","issn":["0197-4580","1558-1497"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurobiology of Aging","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2845388095","display_name":null,"funder_award_id":"WT089698","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G3023260498","display_name":"Plasma AB as a Surrogate Genetic Marker for LOAD","funder_award_id":"R01AG018023","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3036763132","display_name":null,"funder_award_id":"AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3221442283","display_name":"A systematic investigation into the pathogenesis and course of Parkinson's syndrome","funder_award_id":"MC_G1000735","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G388381678","display_name":"Alzheimers Disease Patient Registry","funder_award_id":"U01AG006786","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4298864339","display_name":null,"funder_award_id":"AG-006786","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4954315856","display_name":"RNA processing proteins and neurodegeneration: exploring mechanisms and modelling disease.","funder_award_id":"089701","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G6045168401","display_name":null,"funder_award_id":"P50 AG016574","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G6265045657","display_name":null,"funder_award_id":"WT089698","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6452513941","display_name":"Genetic Analysis Of Alzheimer s Disease","funder_award_id":"Z01AG000950","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6720564865","display_name":null,"funder_award_id":"U01 AG006786","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G687379476","display_name":null,"funder_award_id":"U01 AG006786","funder_id":"https://openalex.org/F4320306085","funder_display_name":"U.S. Department of Health and Human Services"},{"id":"https://openalex.org/G8921296992","display_name":"A systematic investigation into the pathogenesis and course of Parkinson's syndrome.","funder_award_id":"089698","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G9000005508","display_name":null,"funder_award_id":"AG016574","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G95754455","display_name":"Mayo Alzheimer's Disease Research Center","funder_award_id":"P50AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320306085","display_name":"U.S. Department of Health and Human Services","ror":"https://ror.org/033jnv181"},{"id":"https://openalex.org/F4320306219","display_name":"Alzheimer's Association","ror":"https://ror.org/0375f4d26"},{"id":"https://openalex.org/F4320310838","display_name":"University of Dundee","ror":"https://ror.org/03h2bxq36"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320315071","display_name":"NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320286","display_name":"University College London","ror":"https://ror.org/02jx3x895"},{"id":"https://openalex.org/F4320320342","display_name":"University of Sheffield","ror":"https://ror.org/05krs5044"},{"id":"https://openalex.org/F4320321081","display_name":"Alzheimer\u2019s Research UK","ror":"https://ror.org/02ymzm013"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320334658","display_name":"Menzies Centre for Australian Studies, King's College London, University of London","ror":"https://ror.org/0220mzb33"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2146453228.pdf","grobid_xml":"https://content.openalex.org/works/W2146453228.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W1966227821","https://openalex.org/W1966831629","https://openalex.org/W1974300727","https://openalex.org/W1983482668","https://openalex.org/W1984068087","https://openalex.org/W1988134372","https://openalex.org/W1988650085","https://openalex.org/W1991552716","https://openalex.org/W2017576011","https://openalex.org/W2023381648","https://openalex.org/W2054904323","https://openalex.org/W2076538102","https://openalex.org/W2077792283","https://openalex.org/W2085284578","https://openalex.org/W2095519862","https://openalex.org/W2095597256","https://openalex.org/W2099248872","https://openalex.org/W2100818084","https://openalex.org/W2103441770","https://openalex.org/W2107728076","https://openalex.org/W2115779804","https://openalex.org/W2116374809","https://openalex.org/W2119180969","https://openalex.org/W2121820194","https://openalex.org/W2124490243","https://openalex.org/W2126776792","https://openalex.org/W2145210308","https://openalex.org/W2147755473","https://openalex.org/W2147778596","https://openalex.org/W2152119060","https://openalex.org/W2154755614","https://openalex.org/W2166336042","https://openalex.org/W2170724596","https://openalex.org/W2282998689","https://openalex.org/W3214092816"],"related_works":["https://openalex.org/W2023381648","https://openalex.org/W7005759304","https://openalex.org/W7098894045","https://openalex.org/W7133989907","https://openalex.org/W2797328566","https://openalex.org/W1916743150","https://openalex.org/W1977654891","https://openalex.org/W1973907011","https://openalex.org/W2903018244","https://openalex.org/W4324116903"],"abstract_inverted_index":{"The":[0],"overlapping":[1],"clinical":[2,167],"and":[3,17,28,69,75,91,113,123,140,148,152],"neuropathologic":[4],"features":[5],"between":[6],"late-onset":[7],"apparently":[8],"sporadic":[9],"Alzheimer's":[10,14],"disease":[11,15],"(LOAD),":[12],"familial":[13],"(FAD),":[16],"other":[18],"neurodegenerative":[19,172],"dementias":[20],"(frontotemporal":[21],"dementia,":[22],"corticobasal":[23],"degeneration,":[24],"progressive":[25],"supranuclear":[26],"palsy,":[27],"Creutzfeldt-Jakob":[29],"disease)":[30],"raise":[31],"the":[32,42,82,102,144,166],"question":[33],"of":[34,170],"whether":[35],"shared":[36],"genetic":[37,161],"risk":[38],"factors":[39],"may":[40,142],"explain":[41],"similar":[43],"phenotype":[44],"among":[45],"these":[46,171],"disparate":[47],"disorders.":[48],"To":[49],"investigate":[50],"this":[51],"intriguing":[52],"hypothesis,":[53],"we":[54],"analyzed":[55],"rare":[56,99,115,135],"coding":[57,136],"variability":[58,137],"in":[59,71,101,110,117,121,138],"6":[60],"Mendelian":[61],"dementia":[62],"genes":[63,103],"(APP,":[64],"PSEN1,":[65],"PSEN2,":[66],"GRN,":[67,150],"MAPT,":[68,151],"PRNP),":[70],"141":[72],"LOAD":[73,88,147],"patients":[74],"179":[76],"elderly":[77],"controls,":[78],"neuropathologically":[79],"proven,":[80],"from":[81],"UK.":[83],"In":[84],"our":[85],"cohort,":[86],"14":[87],"cases":[89],"(10%)":[90],"11":[92],"controls":[93,122],"(6%)":[94],"carry":[95],"at":[96],"least":[97],"1":[98],"variant":[100,109,116],"studied.":[104],"We":[105],"report":[106],"a":[107,114],"novel":[108],"PSEN1":[111,139],"(p.I168T)":[112],"PSEN2":[118,141],"(p.A237V),":[119],"absent":[120],"both":[124],"likely":[125],"pathogenic.":[126],"Our":[127],"findings":[128],"support":[129],"previous":[130],"studies,":[131],"suggesting":[132],"that":[133],"(1)":[134],"influence":[143],"susceptibility":[145],"for":[146,165],"(2)":[149],"PRNP":[153],"are":[154],"not":[155],"major":[156],"contributors":[157],"to":[158],"LOAD.":[159],"Thus,":[160],"screening":[162],"is":[163],"pivotal":[164],"differential":[168],"diagnosis":[169],"dementias.":[173]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":11}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}