{"id":"https://openalex.org/W2155448579","doi":"https://doi.org/10.1093/brain/awl029","title":"A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD","display_name":"A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD","publication_year":2006,"publication_date":"2006-02-22","ids":{"openalex":"https://openalex.org/W2155448579","doi":"https://doi.org/10.1093/brain/awl029","mag":"2155448579","pmid":"https://pubmed.ncbi.nlm.nih.gov/16495329"},"language":"en","primary_location":{"id":"doi:10.1093/brain/awl029","doi":"https://doi.org/10.1093/brain/awl029","is_oa":true,"landing_page_url":"https://doi.org/10.1093/brain/awl029","pdf_url":"https://academic.oup.com/brain/article-pdf/129/4/841/1056449/awl029.pdf","source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/brain/article-pdf/129/4/841/1056449/awl029.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060034564","display_name":"Julie van der Zee","orcid":"https://orcid.org/0000-0003-4381-8040","observed_orcids":["https://orcid.org/0000-0003-4381-8040"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Julie van der Zee","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048408999","display_name":"Rosa Rademakers","orcid":"https://orcid.org/0000-0002-4049-0863","observed_orcids":["https://orcid.org/0000-0002-4049-0863"]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Rosa Rademakers","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Neuroscience"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Neuroscience","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041038663","display_name":"Sebastiaan Engelborghs","orcid":"https://orcid.org/0000-0003-0304-9785","observed_orcids":["https://orcid.org/0000-0003-0304-9785"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210111370","display_name":"ZNA Middelheim Hospital","ror":"https://ror.org/01z5jvj74","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I4210111370"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sebastiaan Engelborghs","raw_affiliation_strings":["Department of Neurology and Memory Clinic , Middelheim General Hospital , Antwerp and","Laboratory of Neurochemistry and Behavior ,","University of Antwerp"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Memory Clinic , Middelheim General Hospital , Antwerp and","institution_ids":["https://openalex.org/I4210111370"]},{"raw_affiliation_string":"Laboratory of Neurochemistry and Behavior ,","institution_ids":[]},{"raw_affiliation_string":"University of Antwerp","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082573855","display_name":"Ilse Gijselinck","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ilse Gijselinck","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043245087","display_name":"Veerle Bogaerts","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Veerle Bogaerts","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071341444","display_name":"Rik R. Vandenberghe","orcid":"https://orcid.org/0000-0001-6237-2502","observed_orcids":["https://orcid.org/0000-0001-6237-2502"]},"institutions":[{"id":"https://openalex.org/I99464096","display_name":"KU Leuven","ror":"https://ror.org/05f950310","country_code":"BE","type":"education","lineage":["https://openalex.org/I99464096"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Rik Vandenberghe","raw_affiliation_strings":["Department of Neurology , University Hospital Gasthuisberg , Catholic University of Leuven ,","KU Leuven"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology , University Hospital Gasthuisberg , Catholic University of Leuven ,","institution_ids":["https://openalex.org/I99464096"]},{"raw_affiliation_string":"KU Leuven","institution_ids":["https://openalex.org/I99464096"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035486939","display_name":"Patrick Santens","orcid":"https://orcid.org/0000-0002-8886-9776","observed_orcids":["https://orcid.org/0000-0002-8886-9776"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Patrick Santens","raw_affiliation_strings":["Department of Neurology , Ghent University Hospital , University of Ghent ,","#N#Ghent University#N#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology , Ghent University Hospital , University of Ghent ,","institution_ids":["https://openalex.org/I2801227569"]},{"raw_affiliation_string":"#N#Ghent University#N#","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111853625","display_name":"J.F.V. Caekebeke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210101486","display_name":"Onze Lieve Vrouwziekenhuis Hospital","ror":"https://ror.org/00zrfhe30","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I4210101486"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Jo Caekebeke","raw_affiliation_strings":["Department of Neurology , OLV Hospital Aalst , Belgium","OLV Hospital Aalst"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology , OLV Hospital Aalst , Belgium","institution_ids":["https://openalex.org/I4210101486"]},{"raw_affiliation_string":"OLV Hospital Aalst","institution_ids":["https://openalex.org/I4210101486"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044151463","display_name":"Tim De Pooter","orcid":"https://orcid.org/0000-0002-1097-5464","observed_orcids":["https://orcid.org/0000-0002-1097-5464"]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Tim De Pooter","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085880735","display_name":"Karin Peeters","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Karin Peeters","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012454874","display_name":"Ursula L\u00fcbke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ursula L\u00fcbke","raw_affiliation_strings":["University of Antwerp *"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Antwerp *","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019580563","display_name":"Marleen Van den Broeck","orcid":"https://orcid.org/0000-0001-7357-0694","observed_orcids":["https://orcid.org/0000-0001-7357-0694"]},"institutions":[{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Marleen Van den Broeck","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111976542","display_name":"Jean\u2010Jacques Martin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4405271068","display_name":"Institute Born-Bunge","ror":"https://ror.org/01t44jj41","country_code":"BE","type":"nonprofit","lineage":["https://openalex.org/I4405271068"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Jean-Jacques Martin","raw_affiliation_strings":["Laboratory of Neuropathology , Institute Born-Bunge ,","University of Antwerp *"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Neuropathology , Institute Born-Bunge ,","institution_ids":["https://openalex.org/I4405271068"]},{"raw_affiliation_string":"University of Antwerp *","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088006851","display_name":"Marc Cruts","orcid":"https://orcid.org/0000-0002-1338-992X","observed_orcids":["https://orcid.org/0000-0002-1338-992X"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Marc Cruts","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Neurodegenerative Brain Diseases Group , VIB8 Department of Molecular Genetics , University of Antwerp , Building V , Room 0.10 , Universiteitsplein 1 , BE-2610 Antwerpen , Belgium","Flanders Institute for Biotechnology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , VIB8 Department of Molecular Genetics , University of Antwerp , Building V , Room 0.10 , Universiteitsplein 1 , BE-2610 Antwerpen , Belgium","institution_ids":["https://openalex.org/I149213910"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology","institution_ids":["https://openalex.org/I2802017950"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027033208","display_name":"Peter Paul De Deyn","orcid":"https://orcid.org/0000-0002-2228-2964","observed_orcids":["https://orcid.org/0000-0002-2228-2964"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I4210111370","display_name":"ZNA Middelheim Hospital","ror":"https://ror.org/01z5jvj74","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I4210111370"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Peter P. De Deyn","raw_affiliation_strings":["Department of Neurology and Memory Clinic , Middelheim General Hospital , Antwerp and","Laboratory of Neurochemistry and Behavior ,","University of Antwerp"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Memory Clinic , Middelheim General Hospital , Antwerp and","institution_ids":["https://openalex.org/I4210111370"]},{"raw_affiliation_string":"Laboratory of Neurochemistry and Behavior ,","institution_ids":[]},{"raw_affiliation_string":"University of Antwerp","institution_ids":["https://openalex.org/I149213910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039639102","display_name":"Christine Van Broeckhoven","orcid":"https://orcid.org/0000-0003-0183-7665","observed_orcids":["https://orcid.org/0000-0003-0183-7665"]},"institutions":[{"id":"https://openalex.org/I149213910","display_name":"University of Antwerp","ror":"https://ror.org/008x57b05","country_code":"BE","type":"education","lineage":["https://openalex.org/I149213910"]},{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Christine Van Broeckhoven","raw_affiliation_strings":["Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","University of Antwerp ,","Flanders Institute for Biotechnology; University of Antwerp"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"University of Antwerp ,","institution_ids":["https://openalex.org/I149213910"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology; University of Antwerp","institution_ids":["https://openalex.org/I149213910","https://openalex.org/I2802017950"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5034768776","display_name":"Bart Dermaut","orcid":"https://orcid.org/0000-0002-6968-0572","observed_orcids":["https://orcid.org/0000-0002-6968-0572"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]},{"id":"https://openalex.org/I2802017950","display_name":"Vlaams Instituut voor Biotechnologie","ror":"https://ror.org/03xrhmk39","country_code":"BE","type":"facility","lineage":["https://openalex.org/I2802017950"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Bart Dermaut","raw_affiliation_strings":["Department of Neurology , Ghent University Hospital , University of Ghent ,","Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","Flanders Institute for Biotechnology; Ghent University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology , Ghent University Hospital , University of Ghent ,","institution_ids":["https://openalex.org/I2801227569"]},{"raw_affiliation_string":"Neurodegenerative Brain Diseases Group , Department of Molecular Genetics , Flanders Interuniversity Institute for Biotechnology ,","institution_ids":["https://openalex.org/I2802017950"]},{"raw_affiliation_string":"Flanders Institute for Biotechnology; Ghent University","institution_ids":["https://openalex.org/I2802017950","https://openalex.org/I32597200"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5060034564"],"corresponding_institution_ids":["https://openalex.org/I149213910"],"apc_list":{"value":4224,"currency":"GBP","value_usd":5570},"apc_paid":{"value":4224,"currency":"GBP","value_usd":5570},"fwci":11.2683,"has_fulltext":true,"cited_by_count":90,"citation_normalized_percentile":{"value":0.98983646,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"129","issue":"4","first_page":"841","last_page":"852"},"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":0.7231000065803528,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.7231000065803528,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"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":0.1445000022649765,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.08699999749660492,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/frontotemporal-lobar-degeneration","display_name":"frontotemporal lobar degeneration","score":0.9769999980926514},{"id":"https://openalex.org/keywords/17q21","display_name":"17q21","score":0.796999990940094},{"id":"https://openalex.org/keywords/mapt","display_name":"MAPT","score":0.7720000147819519},{"id":"https://openalex.org/keywords/ancestral-haplotypes","display_name":"ancestral haplotypes","score":0.8309999704360962},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9660000205039978},{"id":"https://openalex.org/keywords/ubiquitin-positive-inclusions","display_name":"ubiquitin-positive inclusions","score":0.8220000267028809},{"id":"https://openalex.org/keywords/language-impairment","display_name":"language impairment","score":0.7509999871253967},{"id":"https://openalex.org/keywords/belgian-patients","display_name":"Belgian patients","score":0.6899999976158142},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.5170000195503235}],"concepts":[{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.8629753589630127},{"id":"https://openalex.org/C2776939681","wikidata":"https://www.wikidata.org/wiki/Q18579","display_name":"Frontotemporal lobar degeneration","level":5,"score":0.8306478261947632},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5049787163734436},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4710017740726471},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4495753049850464},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41133207082748413},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24865373969078064},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.1981305480003357},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.1885853409767151},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.13071352243423462},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.1294538676738739},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.10982009768486023},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10347321629524231}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D001530","descriptor_name":"Belgium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006684","descriptor_name":"HLA-DR Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015802","descriptor_name":"HLA-DR2 Antigen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025801","descriptor_name":"Ubiquitin","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D059810","descriptor_name":"HLA-DR Serological Subtypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/brain/awl029","doi":"https://doi.org/10.1093/brain/awl029","is_oa":true,"landing_page_url":"https://doi.org/10.1093/brain/awl029","pdf_url":"https://academic.oup.com/brain/article-pdf/129/4/841/1056449/awl029.pdf","source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},{"id":"pmid:16495329","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16495329","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":"Brain : a journal of neurology","raw_type":"Case Reports"},{"id":"pmh:oai:archive.ugent.be:356475","doi":null,"is_oa":false,"landing_page_url":"https://biblio.ugent.be/publication/356475","pdf_url":null,"source":{"id":"https://openalex.org/S4306400478","display_name":"Ghent University Academic Bibliography (Ghent University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I32597200","host_organization_name":"Ghent University","host_organization_lineage":["https://openalex.org/I32597200"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ISSN: 0006-8950","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:124738","doi":null,"is_oa":false,"landing_page_url":"https://biblio.vub.ac.be/vubir/a-belgian-ancestral-haplotype-harbours-a-highly-prevalent-mutation-for-17q21linked-taunegative-ftld(f2089182-1b2b-4588-8126-2c30cf004b1d).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306402573","display_name":"VUBIR (Vrije Universiteit Brussel)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I13469542","host_organization_name":"Vrije Universiteit Brussel","host_organization_lineage":["https://openalex.org/I13469542"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"}],"best_oa_location":{"id":"doi:10.1093/brain/awl029","doi":"https://doi.org/10.1093/brain/awl029","is_oa":true,"landing_page_url":"https://doi.org/10.1093/brain/awl029","pdf_url":"https://academic.oup.com/brain/article-pdf/129/4/841/1056449/awl029.pdf","source":{"id":"https://openalex.org/S118357697","display_name":"Brain","issn_l":"0006-8950","issn":["0006-8950","1460-2156"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brain","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.979200005531311,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320306219","display_name":"Alzheimer's Association","ror":"https://ror.org/0375f4d26"},{"id":"https://openalex.org/F4320321454","display_name":"Belgian Federal Science Policy Office","ror":"https://ror.org/01fapfv42"},{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320324595","display_name":"Universiteit Antwerpen","ror":"https://ror.org/008x57b05"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320331479","display_name":"Fondation pour la Recherche sur Alzheimer","ror":"https://ror.org/01z0nmr69"},{"id":"https://openalex.org/F4320335227","display_name":"Bijzonder Onderzoeksfonds UGent","ror":"https://ror.org/00cv9y106"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2155448579.pdf","grobid_xml":"https://content.openalex.org/works/W2155448579.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1511517753","https://openalex.org/W1549470101","https://openalex.org/W1971565607","https://openalex.org/W1972553694","https://openalex.org/W1974583546","https://openalex.org/W1974760231","https://openalex.org/W1985131940","https://openalex.org/W1989274511","https://openalex.org/W1992637711","https://openalex.org/W2002424154","https://openalex.org/W2008455214","https://openalex.org/W2010625082","https://openalex.org/W2030084090","https://openalex.org/W2034183549","https://openalex.org/W2041922475","https://openalex.org/W2050441340","https://openalex.org/W2051696646","https://openalex.org/W2053443843","https://openalex.org/W2055679607","https://openalex.org/W2065032350","https://openalex.org/W2068424345","https://openalex.org/W2098187463","https://openalex.org/W2103138740","https://openalex.org/W2107500818","https://openalex.org/W2112814753","https://openalex.org/W2114452946","https://openalex.org/W2116982426","https://openalex.org/W2118629228","https://openalex.org/W2140112364","https://openalex.org/W2141365662","https://openalex.org/W2143364702","https://openalex.org/W2143604549","https://openalex.org/W2146198156","https://openalex.org/W2150655508","https://openalex.org/W2150790063","https://openalex.org/W2161093330","https://openalex.org/W2164891060","https://openalex.org/W2167616979","https://openalex.org/W2172007938"],"related_works":["https://openalex.org/W3020821977","https://openalex.org/W7045112809","https://openalex.org/W2069633716","https://openalex.org/W2286568527","https://openalex.org/W2002424154","https://openalex.org/W2158784790","https://openalex.org/W2118311602","https://openalex.org/W2090468968","https://openalex.org/W2073704038","https://openalex.org/W4254903840"],"abstract_inverted_index":{"Among":[0],"patients":[1,51],"with":[2,147,163],"frontotemporal":[3],"lobar":[4],"degeneration":[5],"(FTLD),":[6],"the":[7,75,84,103,106,158,174],"respective":[8],"frequencies":[9],"of":[10,33,74,79,98,114,116,122,124,138,193],"dominant":[11],"17q21-linked":[12,20],"tau-negative":[13,165,182],"FTLD":[14,22,38,65,95,104,117,126,148,162,183,194],"(with":[15],"unidentified":[16],"molecular":[17],"defect)":[18],"and":[19,57,118,127,154],"tau-positive":[21],"(due":[23],"to":[24,53,69],"MAPT":[25,46,61,134,198],"mutations)":[26],"remain":[27],"unknown.":[28],"Here,":[29],"in":[30,49,63,91,155,195],"a":[31,99,181,188],"series":[32],"98":[34,139],"genealogically":[35],"unrelated":[36],"Belgian":[37],"patients,":[39,96],"we":[40],"identified":[41],"an":[42],"ancestral":[43,87,108],"8":[44],"cM":[45],"containing":[47],"haplotype":[48,88,109,144,177],"two":[50],"belonging":[52],"multiplex":[54],"families":[55],"DR2":[56],"DR8,":[58],"without":[59],"demonstrable":[60],"mutations,":[62],"which":[64],"was":[66,89,128,161],"conclusively":[67],"linked":[68],"17q21":[70,179],"[maximum":[71],"summed":[72],"log":[73],"odds":[76],"(LOD)":[77],"score":[78],"5.28":[80],"at":[81,178],"D17S931].":[82],"Interestingly,":[83],"same":[85],"DR2-DR8":[86,107,143,175],"observed":[90],"five":[92],"additional":[93],"familial":[94,125],"indicative":[97],"founder":[100,176],"effect.":[101],"In":[102],"series,":[105],"explained":[110],"7%":[111],"(7":[112,120],"out":[113,121,137],"98)":[115],"17%":[119],"42)":[123],"seven":[129],"times":[130],"more":[131,190],"frequent":[132,191],"than":[133,197],"mutations":[135],"(1":[136],"or":[140],"1%).":[141],"Clinically,":[142],"carriers":[145],"presented":[146],"often":[149],"characterized":[150],"by":[151],"language":[152],"impairment,":[153],"one":[156],"carrier":[157],"neuropathological":[159],"diagnosis":[160],"rare":[164],"ubiquitin-positive":[166],"inclusions.":[167],"Together,":[168],"these":[169],"results":[170],"strongly":[171],"suggest":[172],"that":[173,186],"harbours":[180],"causing":[184],"mutation":[185],"is":[187],"much":[189],"cause":[192],"Belgium":[196],"mutations.":[199]},"counts_by_year":[{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}