{"id":"https://openalex.org/W1574443152","doi":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","title":"The tau S305S mutation causes frontotemporal dementia with parkinsonism","display_name":"The tau S305S mutation causes frontotemporal dementia with parkinsonism","publication_year":2008,"publication_date":"2008-01-21","ids":{"openalex":"https://openalex.org/W1574443152","doi":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","mag":"1574443152","pmid":"https://pubmed.ncbi.nlm.nih.gov/18093153"},"language":"en","primary_location":{"id":"doi:10.1111/j.1468-1331.2007.02017.x","doi":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","pdf_url":null,"source":{"id":"https://openalex.org/S162635963","display_name":"European Journal of Neurology","issn_l":"1351-5101","issn":["1351-5101","1468-1331"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5006338093","display_name":"Lena Skoglund","orcid":"https://orcid.org/0009-0008-2594-7555","observed_orcids":["https://orcid.org/0009-0008-2594-7555"]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]}],"countries":["SE"],"is_corresponding":true,"raw_author_name":"L. Skoglund","raw_affiliation_strings":["Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. lena.skoglund@pubcare.uu.se","Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden. lena.skoglund@pubcare.uu.se","institution_ids":["https://openalex.org/I123387679"]},{"raw_affiliation_string":"Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018825962","display_name":"Matti H. Viitanen","orcid":"https://orcid.org/0000-0001-5760-5367","observed_orcids":["https://orcid.org/0000-0001-5760-5367"]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I155660961","display_name":"University of Turku","ror":"https://ror.org/05vghhr25","country_code":"FI","type":"education","lineage":["https://openalex.org/I155660961"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["FI","SE"],"is_corresponding":false,"raw_author_name":"M. Viitanen","raw_affiliation_strings":["Both the authors contributed equally to the study and are joint first authors","Department of Geriatrics, University of Turku, Turku, Finland","Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Both the authors contributed equally to the study and are joint first authors","institution_ids":[]},{"raw_affiliation_string":"Department of Geriatrics, University of Turku, Turku, Finland","institution_ids":["https://openalex.org/I155660961"]},{"raw_affiliation_string":"Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069585999","display_name":"Hannu Kalimo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I2801970007","display_name":"Turku University Hospital","ror":"https://ror.org/05dbzj528","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2801970007","https://openalex.org/I4210127022"]}],"countries":["FI","SE"],"is_corresponding":false,"raw_author_name":"H. Kalimo","raw_affiliation_strings":["Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden","Department of Pathology, University and University Hospital of Helsinki, Helsinki, Finland","Department of Pathology, University and University Hospital of Turku, Turku, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]},{"raw_affiliation_string":"Department of Pathology, University and University Hospital of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I2800394112"]},{"raw_affiliation_string":"Department of Pathology, University and University Hospital of Turku, Turku, Finland","institution_ids":["https://openalex.org/I2801970007"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018345023","display_name":"Lars Lannfelt","orcid":"https://orcid.org/0000-0001-9839-659X","observed_orcids":["https://orcid.org/0000-0001-9839-659X"]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"L. Lannfelt","raw_affiliation_strings":["Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. E. J\u00f6nhagen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335113835","display_name":"Karolinska University Hospital","ror":"https://ror.org/00m8d6786","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I1335113835"]},{"id":"https://openalex.org/I28166907","display_name":"Karolinska Institutet","ror":"https://ror.org/056d84691","country_code":"SE","type":"education","lineage":["https://openalex.org/I28166907"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"M. E. J\u00f6nhagen","raw_affiliation_strings":["Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden","institution_ids":["https://openalex.org/I1335113835","https://openalex.org/I28166907"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005585024","display_name":"Martin Ingelsson","orcid":"https://orcid.org/0000-0001-5466-8370","observed_orcids":["https://orcid.org/0000-0001-5466-8370"]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"M. Ingelsson","raw_affiliation_strings":["Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110150669","display_name":"Anna Glaser","orcid":"https://orcid.org/0000-0003-2221-9161","observed_orcids":["https://orcid.org/0000-0003-2221-9161"]},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"A. Glaser","raw_affiliation_strings":["Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113533953","display_name":"Riitta Herva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98381234","display_name":"University of Oulu","ror":"https://ror.org/03yj89h83","country_code":"FI","type":"education","lineage":["https://openalex.org/I98381234"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"R. Herva","raw_affiliation_strings":["Department of Pathology, University of Oulu, Oulu, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, University of Oulu, Oulu, Finland","institution_ids":["https://openalex.org/I98381234"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5006338093"],"corresponding_institution_ids":["https://openalex.org/I123387679"],"apc_list":{"value":3600,"currency":"USD","value_usd":3600},"apc_paid":null,"fwci":1.2064,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.77752123,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"15","issue":"2","first_page":"156","last_page":"161"},"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":0.9940999746322632,"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":0.9940999746322632,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.0044999998062849045,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.0005000000237487257,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/frontotemporal-dementia-with-parkinsonism","display_name":"frontotemporal dementia with parkinsonism","score":0.9269999861717224},{"id":"https://openalex.org/keywords/tauopathy","display_name":"tauopathy","score":0.6880000233650208},{"id":"https://openalex.org/keywords/progressive-supranuclear-palsy","display_name":"progressive supranuclear palsy","score":0.8849999904632568},{"id":"https://openalex.org/keywords/chromosome-17","display_name":"chromosome 17","score":0.8669999837875366},{"id":"https://openalex.org/keywords/4r-tau","display_name":"4R tau","score":0.8069999814033508},{"id":"https://openalex.org/keywords/sarkosyl-insoluble-tau","display_name":"sarkosyl-insoluble tau","score":0.7319999933242798},{"id":"https://openalex.org/keywords/tau-pathology","display_name":"tau pathology","score":0.5230000019073486},{"id":"https://openalex.org/keywords/parkinsonian-symptoms","display_name":"parkinsonian symptoms","score":0.6309999823570251},{"id":"https://openalex.org/keywords/behavioral-variant-frontotemporal-dementia","display_name":"behavioral variant frontotemporal dementia","score":0.6629999876022339},{"id":"https://openalex.org/keywords/familial-neurodegeneration","display_name":"familial neurodegeneration","score":0.609000027179718}],"concepts":[{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.944865345954895},{"id":"https://openalex.org/C2776936178","wikidata":"https://www.wikidata.org/wiki/Q1755684","display_name":"Corticobasal degeneration","level":4,"score":0.8823525905609131},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.8570759296417236},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.6501308679580688},{"id":"https://openalex.org/C2778670691","wikidata":"https://www.wikidata.org/wiki/Q419507","display_name":"Tau protein","level":4,"score":0.5714085698127747},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.5037726759910583},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4922100603580475},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.47721344232559204},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.44545063376426697},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.44034329056739807},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.39406704902648926},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3229416608810425},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3203277587890625},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.2728983163833618},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2644297480583191},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17347601056098938},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.16977766156196594}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001519","descriptor_name":"Behavior","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001519","descriptor_name":"Behavior","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001519","descriptor_name":"Behavior","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003545","descriptor_name":"Cysteine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"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":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"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":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010551","descriptor_name":"Personality","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010551","descriptor_name":"Personality","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010551","descriptor_name":"Personality","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013912","descriptor_name":"Threonine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013912","descriptor_name":"Threonine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013912","descriptor_name":"Threonine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016875","descriptor_name":"tau Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020033","descriptor_name":"Protein Isoforms","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020033","descriptor_name":"Protein Isoforms","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020033","descriptor_name":"Protein Isoforms","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1468-1331.2007.02017.x","doi":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1468-1331.2007.02017.x","pdf_url":null,"source":{"id":"https://openalex.org/S162635963","display_name":"European Journal of Neurology","issn_l":"1351-5101","issn":["1351-5101","1468-1331"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Neurology","raw_type":"journal-article"},{"id":"pmid:18093153","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18093153","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":"European journal of neurology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.6800000071525574,"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":20,"referenced_works":["https://openalex.org/W1511517753","https://openalex.org/W1957167348","https://openalex.org/W1974760231","https://openalex.org/W1992973287","https://openalex.org/W2001113634","https://openalex.org/W2005311608","https://openalex.org/W2018890759","https://openalex.org/W2020631323","https://openalex.org/W2041922475","https://openalex.org/W2057682957","https://openalex.org/W2060770919","https://openalex.org/W2064996887","https://openalex.org/W2075701979","https://openalex.org/W2084779849","https://openalex.org/W2102701929","https://openalex.org/W2105830106","https://openalex.org/W2106529239","https://openalex.org/W2127157849","https://openalex.org/W2167071564","https://openalex.org/W2172007938"],"related_works":["https://openalex.org/W2166670430","https://openalex.org/W124854678","https://openalex.org/W1972317130","https://openalex.org/W2171660142","https://openalex.org/W2154665893","https://openalex.org/W2085612739","https://openalex.org/W2064827607","https://openalex.org/W2126264983","https://openalex.org/W3215111369","https://openalex.org/W2111870870"],"abstract_inverted_index":{"Members":[0],"of":[1,79,93,125,134,179,188],"families":[2,157],"with":[3,76,82,100,122,127,136,158],"mutations":[4,159],"in":[5,14,61,104,160,185],"the":[6,43,54,77,94,148,161,173,177],"tau":[7,44,102,113,126,135,162,180],"gene":[8],"are":[9],"known":[10],"to":[11,22,85],"be":[12],"heterogeneous":[13],"their":[15],"clinical":[16,24,149],"presentation,":[17],"ranging":[18],"from":[19,115],"frontotemporal":[20,80],"dementia":[21,81],"a":[23,39,119],"picture":[25],"more":[26],"resembling":[27],"corticobasal":[28],"degeneration":[29,92],"or":[30],"progressive":[31,50],"supranuclear":[32,51],"palsy.":[33,52],"In":[34,164],"this":[35],"report,":[36],"we":[37],"describe":[38],"new":[40],"phenotype":[41],"for":[42,147],"S305S":[45,174],"mutation,":[46],"previously":[47],"described":[48],"as":[49,65,67],"Clinically,":[53],"three":[55,128],"affected":[56],"family":[57],"members":[58],"showed":[59],"alterations":[60],"personality":[62],"and":[63,70,96,107,111,131,150,155,183],"behaviour":[64],"well":[66],"cognitive":[68],"decline":[69],"late":[71],"levodopa-resistant":[72],"parkinsonian":[73],"symptoms,":[74],"consistent":[75],"diagnosis":[78],"parkinsonism":[83],"linked":[84],"chromosome":[86],"17.":[87],"One":[88],"autopsied":[89],"case":[90],"displayed":[91],"frontal":[95,116],"temporal":[97],"lobes":[98],"together":[99],"extensive":[101],"pathology":[103],"both":[105,153],"neurones":[106],"glial":[108],"cells.":[109],"Sarkosyl-soluble":[110],"-insoluble":[112],"extracted":[114],"cortex":[117],"revealed":[118],"ratio":[120],"shift":[121],"decreased":[123],"levels":[124,133],"microtubule-binding":[129,138],"repeats":[130,139],"increased":[132],"four":[137],"(4R":[140],"tau).":[141],"These":[142],"findings":[143],"provide":[144],"further":[145],"evidence":[146],"pathological":[151],"variation":[152],"within":[154],"between":[156],"gene.":[163],"addition,":[165],"they":[166],"support":[167],"previous":[168],"studies":[169],"which":[170],"demonstrate":[171],"that":[172],"mutation":[175],"influences":[176],"splicing":[178],"exon":[181],"10":[182],"results":[184],"an":[186],"overproduction":[187],"4R":[189],"tau.":[190]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2013,"cited_by_count":2}],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2025-10-10T00:00:00"}