{"id":"https://openalex.org/W2002164075","doi":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","title":"FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation","display_name":"FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation","publication_year":1999,"publication_date":"1999-11-01","ids":{"openalex":"https://openalex.org/W2002164075","doi":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","mag":"2002164075","pmid":"https://pubmed.ncbi.nlm.nih.gov/10553987"},"language":"en","primary_location":{"id":"doi:10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","doi":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","is_oa":false,"landing_page_url":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5111535207","display_name":"Anne Dorte Sperfeld","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Anne D. Sperfeld","raw_affiliation_strings":["Department of Neurology, University of Ulm, Germany","Dept. of Neurology, University of Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]},{"raw_affiliation_string":"Dept. of Neurology, University of Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048730714","display_name":"Michael B. Collatz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Michael B. Collatz","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090556114","display_name":"Hartmut Baier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Hartmut Baier","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001343247","display_name":"M Palmbach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Markus Palmbach","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039229902","display_name":"Alexander Storch","orcid":"https://orcid.org/0000-0002-1133-9216","observed_orcids":["https://orcid.org/0000-0002-1133-9216"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Alexander Storch","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103570711","display_name":"Johannes Schwarz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Johannes Schwarz","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032573177","display_name":"Klaus Tatsch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Klaus Tatsch","raw_affiliation_strings":["Department of Nuclear Medicine, University of Munich, Munich, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nuclear Medicine, University of Munich, Munich, Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111694246","display_name":"Sven Norbert Reske","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Sven Reske","raw_affiliation_strings":["Department of Nuclear Medicine, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nuclear Medicine, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111785953","display_name":"Marijke Joosse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marijke Joosse","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I913958620"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057989264","display_name":"Peter Heutink","orcid":"https://orcid.org/0000-0001-5218-1737","observed_orcids":["https://orcid.org/0000-0001-5218-1737"]},"institutions":[{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Peter Heutink","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I913958620"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5104053109","display_name":"Albert C. Ludolph","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Albert C. Ludolph","raw_affiliation_strings":["Department of Neurology, University of Ulm, Ulm, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University of Ulm, Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5104053109"],"corresponding_institution_ids":["https://openalex.org/I196349391"],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":5.2869,"has_fulltext":false,"cited_by_count":206,"citation_normalized_percentile":{"value":0.95835571,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"46","issue":"5","first_page":"708","last_page":"715"},"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":0.9585000276565552,"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":0.9585000276565552,"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":0.031199999153614044,"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":0.006300000008195639,"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/ftdp-17","display_name":"FTDP-17","score":0.9860000014305115},{"id":"https://openalex.org/keywords/frontotemporal-dementia-with-parkinsonism","display_name":"frontotemporal dementia with parkinsonism","score":0.8569999933242798},{"id":"https://openalex.org/keywords/tau-gene","display_name":"tau gene","score":0.6019999980926514},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9520000219345093},{"id":"https://openalex.org/keywords/parkinsonism","display_name":"parkinsonism","score":0.9470000267028809},{"id":"https://openalex.org/keywords/epileptic-seizures","display_name":"epileptic seizures","score":0.9810000061988831},{"id":"https://openalex.org/keywords/dopamine-transporter-imaging","display_name":"dopamine transporter imaging","score":0.9160000085830688},{"id":"https://openalex.org/keywords/tau-hyperphosphorylation","display_name":"tau hyperphosphorylation","score":0.9760000109672546},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8240000009536743},{"id":"https://openalex.org/keywords/novel-phenotype","display_name":"novel phenotype","score":0.44999998807907104}],"concepts":[{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.786119282245636},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.7549238204956055},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.7110514640808105},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5293415784835815},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5050366520881653},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.4883546531200409},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.4495835602283478},{"id":"https://openalex.org/C2778670691","wikidata":"https://www.wikidata.org/wiki/Q419507","display_name":"Tau protein","level":4,"score":0.43861305713653564},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4216322898864746},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35991498827934265},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32552582025527954},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.21330246329307556},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18616843223571777},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.18547937273979187},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.18322396278381348}],"mesh":[{"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":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004569","descriptor_name":"Electroencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004827","descriptor_name":"Epilepsy","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005625","descriptor_name":"Frontal Lobe","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","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":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","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":"D013702","descriptor_name":"Temporal Lobe","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015899","descriptor_name":"Tomography, Emission-Computed, Single-Photon","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":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","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":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","doi":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","is_oa":false,"landing_page_url":"https://doi.org/10.1002/1531-8249(199911)46:5<708::aid-ana5>3.0.co;2-k","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","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":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:10553987","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10553987","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":"Annals of neurology","raw_type":"Case Reports"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/6f00aeb3-1f8c-49df-8e56-946d25378441","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/6f00aeb3-1f8c-49df-8e56-946d25378441","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sperfeld, AD, Collatz, MB, Baier, H, Palmbach, M, Storch, A, Schwarz, J, Tatsch, K, Reske, S, Joosse, M, Heutink, P & Ludolph, AC 1999, 'FTDP-17: an early-onset phenotype with Parkinsonism and epileptic seizures caused by a novel mutation', Annals of Neurology, vol. 46, pp. 708-715.","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/6f00aeb3-1f8c-49df-8e56-946d25378441","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/6f00aeb3-1f8c-49df-8e56-946d25378441","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Annals of Neurology, 46, 708 - 715. John Wiley &amp; Sons Inc.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":26,"referenced_works":["https://openalex.org/W1482580692","https://openalex.org/W1511517753","https://openalex.org/W1607830031","https://openalex.org/W1840007326","https://openalex.org/W1966807608","https://openalex.org/W1985131940","https://openalex.org/W2000277357","https://openalex.org/W2006453255","https://openalex.org/W2030174922","https://openalex.org/W2051696646","https://openalex.org/W2072174666","https://openalex.org/W2080630610","https://openalex.org/W2094949893","https://openalex.org/W2111567107","https://openalex.org/W2118094114","https://openalex.org/W2118227248","https://openalex.org/W2124450123","https://openalex.org/W2130152658","https://openalex.org/W2130748378","https://openalex.org/W2144665461","https://openalex.org/W2155879492","https://openalex.org/W2159377066","https://openalex.org/W2164891060","https://openalex.org/W2167616979","https://openalex.org/W2172007938","https://openalex.org/W4255106309"],"related_works":["https://openalex.org/W2072677528","https://openalex.org/W2121452071","https://openalex.org/W3023579264","https://openalex.org/W2395293787","https://openalex.org/W2072383054","https://openalex.org/W2117621305","https://openalex.org/W2042644489","https://openalex.org/W2075155345","https://openalex.org/W2036108951","https://openalex.org/W2004590201"],"abstract_inverted_index":{"Recently,":[0],"mutations":[1,126],"in":[2,36,70,127],"the":[3,37,77,85,114,122,136],"tau":[4,125,149],"gene":[5],"on":[6],"chromosome":[7],"17":[8],"were":[9],"found":[10],"causative":[11],"for":[12,113,124],"autosomal":[13],"dominantly":[14],"inherited":[15],"frontotemporal":[16,66,117],"dementia":[17,67],"and":[18,48,68,119],"parkinsonism":[19,69],"(FTDP-17).":[20],"We":[21,75],"describe":[22],"a":[23,26,55,93],"family":[24],"carrying":[25],"missense":[27],"mutation":[28,105,145],"at":[29],"nucleotide":[30],"1137":[31],"C":[32],"-->":[33],"T,":[34],"resulting":[35],"amino":[38],"acid":[39],"substitution":[40],"P301S.":[41],"Methods":[42],"of":[43,63,87,99,116],"investigations":[44],"include":[45],"clinical,":[46],"electrophysiological,":[47],"imaging":[49],"techniques.":[50],"This":[51],"kindred":[52],"presents":[53],"with":[54,72,92,103,110],"novel":[56],"phenotype":[57,102],"characterized":[58],"by":[59,84],"an":[60],"early":[61],"onset":[62],"rapidly":[64],"progressive":[65],"combination":[71],"epileptic":[73],"seizures.":[74],"define":[76],"dopaminergic":[78],"deficits":[79],"as":[80],"being":[81],"predominantly":[82],"presynaptic":[83],"use":[86],"single-photon":[88],"emission":[89],"computed":[90],"tomography":[91],"dopamine":[94],"transporter":[95],"ligand.":[96],"The":[97],"association":[98],"this":[100,144],"early-onset":[101],"P301S":[104],"is":[106],"not":[107,131],"entirely":[108],"consistent":[109],"current":[111],"criteria":[112],"diagnosis":[115],"dementias":[118],"may":[120],"encourage":[121],"search":[123],"diseases":[128],"similar":[129],"but":[130],"identical":[132],"to":[133,140,148],"FTDP-17.":[134],"Also,":[135],"change":[137],"from":[138],"proline":[139],"serine":[141],"suggests":[142],"that":[143],"might":[146],"contribute":[147],"hyperphosphorylation.":[150]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":11},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":12},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":9},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":6}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}