{"id":"https://openalex.org/W2016514980","doi":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","title":"Clinicopathologic correlation in PGRN mutations","display_name":"Clinicopathologic correlation in PGRN mutations","publication_year":2007,"publication_date":"2007-05-24","ids":{"openalex":"https://openalex.org/W2016514980","doi":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","mag":"2016514980","pmid":"https://pubmed.ncbi.nlm.nih.gov/17522386","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3545400"},"language":"en","primary_location":{"id":"doi:10.1212/01.wnl.0000267701.58488.69","doi":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3545400","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016376478","display_name":"S. Davion","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. Davion","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090350244","display_name":"Nancy Johnson","orcid":"https://orcid.org/0000-0002-5137-1536","observed_orcids":["https://orcid.org/0000-0002-5137-1536"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N. Johnson","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002754020","display_name":"Sandra We\u0131ntraub","orcid":"https://orcid.org/0000-0003-2605-5205","observed_orcids":["https://orcid.org/0000-0003-2605-5205"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S. Weintraub","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","Psychiatry and Behavioral Sciences"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychiatry and Behavioral Sciences","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017437213","display_name":"Marsel M. Mesulam","orcid":"https://orcid.org/0000-0001-5731-851X","observed_orcids":["https://orcid.org/0000-0001-5731-851X"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. -M. Mesulam","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003797476","display_name":"Anna K. Engberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Engberg","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109432733","display_name":"M. Mishra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Mishra","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064561010","display_name":"Matthew Baker","orcid":"https://orcid.org/0000-0002-0002-1907","observed_orcids":["https://orcid.org/0000-0002-0002-1907","https://orcid.org/0009-0001-2691-5757"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Baker","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":null,"display_name":"J. Adamson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Adamson","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059579249","display_name":"Melanie L. Hutton","orcid":"https://orcid.org/0000-0001-6470-2288","observed_orcids":["https://orcid.org/0000-0001-6470-2288"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Hutton","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"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/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. Rademakers","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5068784480","display_name":"Eileen H. Bigio","orcid":"https://orcid.org/0000-0002-9554-1138","observed_orcids":["https://orcid.org/0000-0002-9554-1138"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. H. Bigio","raw_affiliation_strings":["From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology (S.D., E.H.B.), Cognitive Neurology and Alzheimer Disease Center (N.J., S.W., M.-M.M., A.E., M.M., E.H.B.), and Department of Neurology (M.-M.M.), Northwestern University Feinberg School of Medicine, Chicago, IL; and Neurogenetics Laboratory, Mayo Clinic Jacksonville (M.B., J.A., M.H., R.R.), FL","institution_ids":["https://openalex.org/I111979921","https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.6803,"has_fulltext":false,"cited_by_count":54,"citation_normalized_percentile":{"value":0.95690075,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"69","issue":"11","first_page":"1113","last_page":"1121"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9154999852180481,"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"}},"topics":[{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9154999852180481,"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.06350000202655792,"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":0.009700000286102295,"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/progranulin-gene","display_name":"progranulin gene","score":0.7829999923706055},{"id":"https://openalex.org/keywords/frontotemporal-lobar-degeneration","display_name":"frontotemporal lobar degeneration","score":0.878000020980835},{"id":"https://openalex.org/keywords/frontotemporal-dementia","display_name":"frontotemporal dementia","score":0.9169999957084656},{"id":"https://openalex.org/keywords/primary-progressive-aphasia","display_name":"primary progressive aphasia","score":0.9819999933242798},{"id":"https://openalex.org/keywords/behavioral-variant-frontotemporal-dementia","display_name":"behavioral variant frontotemporal dementia","score":0.8769999742507935},{"id":"https://openalex.org/keywords/neuronal-cytoplasmic-inclusions","display_name":"neuronal cytoplasmic inclusions","score":0.9819999933242798},{"id":"https://openalex.org/keywords/clinicopathological-correlation","display_name":"clinicopathological correlation","score":0.8610000014305115},{"id":"https://openalex.org/keywords/chromosome-17q21","display_name":"chromosome 17q21","score":0.9010000228881836},{"id":"https://openalex.org/keywords/familial-frontotemporal-lobar-degeneration","display_name":"familial frontotemporal lobar degeneration","score":0.7149999737739563},{"id":"https://openalex.org/keywords/dystrophic-neurites","display_name":"dystrophic neurites","score":0.9419999718666077}],"concepts":[{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.7802717685699463},{"id":"https://openalex.org/C2776939681","wikidata":"https://www.wikidata.org/wiki/Q18579","display_name":"Frontotemporal lobar degeneration","level":5,"score":0.7204360961914062},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5823590755462646},{"id":"https://openalex.org/C2778670691","wikidata":"https://www.wikidata.org/wiki/Q419507","display_name":"Tau protein","level":4,"score":0.5266252160072327},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5026683807373047},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4982130527496338},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.4968588650226593},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.435604453086853},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.41102245450019836},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3224216103553772},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.30976974964141846},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.1539733111858368},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.07910853624343872}],"mesh":[{"descriptor_ui":"D000077153","descriptor_name":"Progranulins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003342","descriptor_name":"Corpus Striatum","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003342","descriptor_name":"Corpus Striatum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003342","descriptor_name":"Corpus Striatum","qualifier_ui":"Q000503","qualifier_name":"physiopathology","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":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016501","descriptor_name":"Neurites","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D016501","descriptor_name":"Neurites","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D025801","descriptor_name":"Ubiquitin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D036341","descriptor_name":"Intercellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D045586","descriptor_name":"Intranuclear Inclusion Bodies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D045586","descriptor_name":"Intranuclear Inclusion Bodies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D045586","descriptor_name":"Intranuclear Inclusion Bodies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1212/01.wnl.0000267701.58488.69","doi":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000267701.58488.69","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:17522386","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17522386","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":"Neurology","raw_type":"Case Reports"},{"id":"pmh:oai:europepmc.org:2547088","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3545400","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3545400","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3545400","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Neurology","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2547088","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3545400","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1719844825","display_name":null,"funder_award_id":"AG13854","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G330169411","display_name":"National Alzheimer's Coordinating Center","funder_award_id":"U01AG016976","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3830746813","display_name":"UCLA Alzheimer's Disease Research Center","funder_award_id":"P50AG016570","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5528250371","display_name":"Multidisciplinary Study of Social Behavior and Emotion in Frontotemporal Dementia","funder_award_id":"R01AG034499","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7425391916","display_name":"Tau and Neurodegeneration II: A therapeutic target","funder_award_id":"P01AG017216","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7840397398","display_name":"Alzheimer's Disease Core Center","funder_award_id":"P30AG013854","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":67,"referenced_works":["https://openalex.org/W181718899","https://openalex.org/W194938147","https://openalex.org/W1741469151","https://openalex.org/W1965616054","https://openalex.org/W1968744160","https://openalex.org/W1970283678","https://openalex.org/W1971565607","https://openalex.org/W1974583546","https://openalex.org/W1977977177","https://openalex.org/W1983480505","https://openalex.org/W1984978943","https://openalex.org/W1989274511","https://openalex.org/W1989451265","https://openalex.org/W1995139137","https://openalex.org/W2001199794","https://openalex.org/W2002424154","https://openalex.org/W2003618511","https://openalex.org/W2004466019","https://openalex.org/W2008616648","https://openalex.org/W2010528085","https://openalex.org/W2016433356","https://openalex.org/W2017702194","https://openalex.org/W2021886765","https://openalex.org/W2022641202","https://openalex.org/W2022671600","https://openalex.org/W2027460468","https://openalex.org/W2047043026","https://openalex.org/W2047517574","https://openalex.org/W2050685193","https://openalex.org/W2052039288","https://openalex.org/W2055064377","https://openalex.org/W2056607803","https://openalex.org/W2063940822","https://openalex.org/W2068424345","https://openalex.org/W2073325939","https://openalex.org/W2079596501","https://openalex.org/W2080861984","https://openalex.org/W2091173932","https://openalex.org/W2095973840","https://openalex.org/W2097036652","https://openalex.org/W2098399185","https://openalex.org/W2099522162","https://openalex.org/W2102286051","https://openalex.org/W2104658204","https://openalex.org/W2105121811","https://openalex.org/W2114452946","https://openalex.org/W2115694724","https://openalex.org/W2117095913","https://openalex.org/W2120402446","https://openalex.org/W2122582684","https://openalex.org/W2128030851","https://openalex.org/W2132176012","https://openalex.org/W2136729000","https://openalex.org/W2137807688","https://openalex.org/W2139829762","https://openalex.org/W2142151091","https://openalex.org/W2145738501","https://openalex.org/W2146198156","https://openalex.org/W2146729934","https://openalex.org/W2150443669","https://openalex.org/W2167065159","https://openalex.org/W2168659016","https://openalex.org/W2168845544","https://openalex.org/W2168929061","https://openalex.org/W2619097621","https://openalex.org/W4236213038","https://openalex.org/W4299599928"],"related_works":["https://openalex.org/W2166107584","https://openalex.org/W2070208966","https://openalex.org/W2102262051","https://openalex.org/W2079596501","https://openalex.org/W2115694724","https://openalex.org/W1984261651","https://openalex.org/W2017702194","https://openalex.org/W2101738226","https://openalex.org/W2063019912","https://openalex.org/W2005731595"],"abstract_inverted_index":{"BACKGROUND:":[0],"Frontotemporal":[1],"dementia":[2,212],"(FTD)":[3],"has":[4,69],"been":[5],"linked":[6,22],"to":[7],"the":[8,44,227],"microtubule":[9],"associated":[10,175],"protein":[11,31],"tau":[12,30,37],"(MAPT)":[13],"gene":[14],"region":[15],"of":[16,60,98,157,169,230],"chromosome":[17],"17.":[18],"However,":[19],"many":[20],"chromosome-17":[21],"FTLDs":[23],"do":[24],"not":[25],"have":[26,34,239],"MAPT":[27,52],"mutations":[28,120,162,173,202,237],"or":[29,226],"deposits,":[32],"but":[33],"ubiquitin":[35],"positive,":[36],"and":[38,78,107,114,130,135,145,155,166,181,189,217,251],"alpha-synuclein":[39],"negative":[40],"inclusions.":[41,243],"Mutations":[42],"in":[43,58,66,89,110,123,207,218],"progranulin":[45],"(PGRN)":[46],"gene,":[47],"located":[48],"1.7":[49],"Mb":[50],"from":[51,96],"at":[53,203],"17q21.31,":[54],"were":[55,121],"recently":[56],"discovered":[57],"some":[59],"these":[61],"individuals.":[62,91],"The":[63],"pathologic":[64,108],"phenotype":[65],"all":[67],"cases":[68,112,153,159,196,216,219,234],"thus":[70],"far":[71],"included":[72],"ubiquitinated":[73,164,214,240],"neuronal":[74,79,241],"intranuclear":[75,242],"inclusions":[76,81,215],"(NIIs)":[77],"cytoplasmic":[80],"(NCIs).":[82],"METHODS:":[83],"PGRN":[84,116,119,161,172,198,201,236,253],"mutation":[85],"analysis":[86],"was":[87,94],"performed":[88],"12":[90],"Informed":[92],"consent":[93],"obtained":[95],"next":[97],"kin":[99],"under":[100],"an":[101],"IRB-approved":[102],"protocol.":[103],"We":[104],"compared":[105],"clinical":[106,128,138],"findings":[109],"those":[111],"with":[113,127,137,144,171,176,213,221,250],"without":[115,147,197,235,252],"mutations.":[117,199,254],"RESULTS:":[118],"found":[122],"four":[124,152],"patients,":[125],"two":[126,136],"FTD":[129],"a":[131,148],"positive":[132],"family":[133,149],"history,":[134],"primary":[139,223],"progressive":[140,224],"aphasia":[141,225],"(PPA),":[142],"one":[143,146],"history.":[150],"All":[151],"with,":[154],"five":[156],"eight":[158],"without,":[160],"had":[163],"NCIs":[165,180],"NIIs.":[167],"Brains":[168],"individuals":[170,249],"are":[174,246],"more":[177,190],"frequent":[178,185,191],"frontal":[179],"dystrophic":[182],"neurites,":[183],"less":[184],"dentate":[186],"gyrus":[187],"NCIs,":[188],"striatal":[192],"NIIs":[193],"than":[194],"FTLD-U":[195],"CONCLUSION:":[200],"17q21":[204],"may":[205],"occur":[206],"apparently":[208],"sporadic":[209],"frontotemporal":[210,231],"lobar":[211],"presenting":[220],"either":[222],"behavioral":[228],"variant":[229],"dementia.":[232],"Some":[233],"also":[238],"Clinicopathologic":[244],"differences":[245],"observed":[247],"among":[248]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
