{"id":"https://openalex.org/W2005436152","doi":"https://doi.org/10.1016/s0304-3940(01)02254-6","title":"A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies","display_name":"A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies","publication_year":2001,"publication_date":"2001-11-01","ids":{"openalex":"https://openalex.org/W2005436152","doi":"https://doi.org/10.1016/s0304-3940(01)02254-6","mag":"2005436152","pmid":"https://pubmed.ncbi.nlm.nih.gov/11684347"},"language":"en","primary_location":{"id":"doi:10.1016/s0304-3940(01)02254-6","doi":"https://doi.org/10.1016/s0304-3940(01)02254-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0304-3940(01)02254-6","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/21.11116/0000-0001-A152-C","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082436384","display_name":"Henry Houlden","orcid":"https://orcid.org/0000-0002-2866-7777","observed_orcids":["https://orcid.org/0000-0002-2866-7777","https://orcid.org/0000-0002-0916-7347"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"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":"Henry Houlden","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA","Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079307479","display_name":"Richard Crook","orcid":"https://orcid.org/0000-0001-6782-1581","observed_orcids":["https://orcid.org/0000-0001-6782-1581"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Crook","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026197656","display_name":"Raymond J. Dolan","orcid":"https://orcid.org/0000-0001-9356-761X","observed_orcids":["https://orcid.org/0000-0001-9356-761X","https://orcid.org/0000-0002-8384-6292"]},"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":"R.J. Dolan","raw_affiliation_strings":["Department of Cognitive Neurology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cognitive Neurology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103174306","display_name":"J. McLaughlin","orcid":"https://orcid.org/0000-0003-4511-6202","observed_orcids":["https://orcid.org/0000-0003-4511-6202"]},"institutions":[{"id":"https://openalex.org/I2801138448","display_name":"The Royal Free Hospital","ror":"https://ror.org/01ge67z96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I169248724","https://openalex.org/I2801138448"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jim McLaughlin","raw_affiliation_strings":["Department of Pathology, Royal Free Hospital, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Royal Free Hospital, London, UK","institution_ids":["https://openalex.org/I2801138448"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010587672","display_name":"Tam\u00e1s R\u00e9v\u00e9sz","orcid":"https://orcid.org/0000-0003-2501-0259","observed_orcids":["https://orcid.org/0000-0003-2501-0259"]},"institutions":[{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]},{"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":"Tamas Revesz","raw_affiliation_strings":["Department of Neuropathology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuropathology, Institute of Neurology, University College London, Queen Square London WC1N 3BG, UK","institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"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/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"John Hardy","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5020514779"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"],"apc_list":{"value":3430,"currency":"USD","value_usd":3430},"apc_paid":null,"fwci":1.3329,"has_fulltext":false,"cited_by_count":54,"citation_normalized_percentile":{"value":0.78999141,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"313","issue":"1-2","first_page":"93","last_page":"95"},"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":0.9984999895095825,"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":0.9984999895095825,"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":0.0007999999797903001,"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":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.9940000176429749},{"id":"https://openalex.org/keywords/psen2","display_name":"presenilin 2","score":0.8539999723434448},{"id":"https://openalex.org/keywords/lewy-bodies","display_name":"Lewy bodies","score":0.8889999985694885},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.847000002861023},{"id":"https://openalex.org/keywords/amyloid-plaques","display_name":"amyloid plaques","score":0.7429999709129333},{"id":"https://openalex.org/keywords/neurofibrillary-tangles","display_name":"neurofibrillary tangles","score":0.9670000076293945},{"id":"https://openalex.org/keywords/autosomal-dominant-alzheimer-s-disease","display_name":"autosomal dominant Alzheimer's disease","score":0.9470000267028809}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8422537446022034},{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.7709959745407104},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.608860969543457},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5030953288078308},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.4694273769855499},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45356178283691406},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.445290207862854},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.4167507588863373},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.36226630210876465},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2980458736419678},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13494393229484558}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","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":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016631","descriptor_name":"Lewy Bodies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D053764","descriptor_name":"Presenilin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1016/s0304-3940(01)02254-6","doi":"https://doi.org/10.1016/s0304-3940(01)02254-6","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0304-3940(01)02254-6","pdf_url":null,"source":{"id":"https://openalex.org/S203050076","display_name":"Neuroscience Letters","issn_l":"0304-3940","issn":["0304-3940","1872-7972"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","medline","poland-70","russia-white-list-2","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neuroscience Letters","raw_type":"journal-article"},{"id":"pmid:11684347","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11684347","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":"Neuroscience letters","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:156813","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/156813/","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":"NEUROSCI LETT , 313 (1-2) 93 - 95. (2001)","raw_type":"Article"},{"id":"pmh:oai:escidoc.org:escidoc:2614648","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/21.11116/0000-0001-A152-C","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210088280","host_organization_name":"Max Planck Digital Library","host_organization_lineage":["https://openalex.org/I4210088280"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.mpg.de:item_2614648","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/21.11116/0000-0001-A152-C","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Neuroscience Letters","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:escidoc.org:escidoc:2614648","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/21.11116/0000-0001-A152-C","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210088280","host_organization_name":"Max Planck Digital Library","host_organization_lineage":["https://openalex.org/I4210088280"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W145511434","https://openalex.org/W1965252410","https://openalex.org/W2004212414","https://openalex.org/W2022768979","https://openalex.org/W2029205666","https://openalex.org/W2029380977","https://openalex.org/W2029486567","https://openalex.org/W2038012680","https://openalex.org/W2039030925","https://openalex.org/W2045153164","https://openalex.org/W2046209489","https://openalex.org/W2066155243","https://openalex.org/W2077472626","https://openalex.org/W2085284578","https://openalex.org/W2092157460","https://openalex.org/W2101077392","https://openalex.org/W2142540873","https://openalex.org/W3146038801"],"related_works":["https://openalex.org/W2066318746","https://openalex.org/W4249219461","https://openalex.org/W2121316843","https://openalex.org/W1984513853","https://openalex.org/W1967129814","https://openalex.org/W1998334073","https://openalex.org/W7049144722","https://openalex.org/W2024071066","https://openalex.org/W2568643245","https://openalex.org/W2595086713"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}
