{"id":"https://openalex.org/W2149803232","doi":"https://doi.org/10.1001/archneurol.2010.113","title":"Alzheimer Disease\u2013like Phenotype Associated With the c.154delA Mutation in Progranulin","display_name":"Alzheimer Disease\u2013like Phenotype Associated With the c.154delA Mutation in Progranulin","publication_year":2010,"publication_date":"2010-02-01","ids":{"openalex":"https://openalex.org/W2149803232","doi":"https://doi.org/10.1001/archneurol.2010.113","mag":"2149803232","pmid":"https://pubmed.ncbi.nlm.nih.gov/20142525","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2902004"},"language":"en","primary_location":{"id":"doi:10.1001/archneurol.2010.113","doi":"https://doi.org/10.1001/archneurol.2010.113","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneurol.2010.113","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/799232/noc70068_171_177.pdf","source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/799232/noc70068_171_177.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5020182506","display_name":"Brendan J. Kelley","orcid":"https://orcid.org/0000-0002-3440-5191","observed_orcids":["https://orcid.org/0000-0002-3440-5191"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brendan J. Kelley","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034919011","display_name":"Wael N. Haidar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wael Haidar","raw_affiliation_strings":["Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","Mayo Clinic Rochester MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","institution_ids":[]},{"raw_affiliation_string":"Mayo Clinic Rochester MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066352714","display_name":"Bradley F. Boeve","orcid":"https://orcid.org/0000-0002-4153-8187","observed_orcids":["https://orcid.org/0000-0002-4153-8187"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bradley F. Boeve","raw_affiliation_strings":["Departments of Neurology, Laboratory Medicine and Pathology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neurology, Neuropathology Laboratory and Neurogenetics Laboratory, Mayo Clinic, Jacksonville, Florida; and Robert H. and Clarice Smith and Abigail Van Buren Alzheimer's Disease Research Program of the Mayo Foundation","Mayo Clinic Rochester MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Laboratory Medicine and Pathology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neurology, Neuropathology Laboratory and Neurogenetics Laboratory, Mayo Clinic, Jacksonville, Florida; and Robert H. and Clarice Smith and Abigail Van Buren Alzheimer's Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic Rochester MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051295879","display_name":"Matt C. Baker","orcid":"https://orcid.org/0009-0001-2691-5757","observed_orcids":["https://orcid.org/0009-0001-2691-5757"]},"institutions":[{"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":"Matt Baker","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic, Jacksonville, FL\u2020"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic, Jacksonville, FL\u2020","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109566697","display_name":"Maria S. Shiung","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria Shiung","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059027860","display_name":"David S. Knopman","orcid":"https://orcid.org/0000-0002-6544-066X","observed_orcids":["https://orcid.org/0000-0002-6544-066X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David S. Knopman","raw_affiliation_strings":["Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","Mayo Clinic Rochester MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","institution_ids":[]},{"raw_affiliation_string":"Mayo Clinic Rochester MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"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/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":"Rosa Rademakers","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic, Jacksonville, FL\u2020"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic, Jacksonville, FL\u2020","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109961094","display_name":"Mike Hutton","orcid":null,"observed_orcids":[]},"institutions":[{"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":"Mike Hutton","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic, Jacksonville, FL\u2020"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic, Jacksonville, FL\u2020","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103583515","display_name":"Jennifer L. Adamson","orcid":null,"observed_orcids":[]},"institutions":[{"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":"Jennifer Adamson","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic, Jacksonville, FL\u2020"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic, Jacksonville, FL\u2020","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Karen M. Kuntz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karen M. Kuntz","raw_affiliation_strings":["Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","Mayo Clinic Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","institution_ids":[]},{"raw_affiliation_string":"Mayo Clinic Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009533777","display_name":"Dennis W. Dickson","orcid":"https://orcid.org/0000-0001-7189-7917","observed_orcids":["https://orcid.org/0000-0001-7189-7917"]},"institutions":[{"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":"Dennis W. Dickson","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic, Jacksonville, FL\u2020"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic, Jacksonville, FL\u2020","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107958201","display_name":"Joseph E. Parisi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joseph E. Parisi","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic Rochester, MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076444858","display_name":"Glenn E. Smith","orcid":"https://orcid.org/0000-0003-1506-9484","observed_orcids":["https://orcid.org/0000-0003-1506-9484"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Glenn E. Smith","raw_affiliation_strings":["Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","Mayo Clinic Rochester MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neuropathology Labora- tory (Dr Dickson) , Mayo Clinic , Jacksonville , Florida","institution_ids":["https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic Rochester MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5110342810","display_name":"Ronald Carl Petersen","orcid":"https://orcid.org/0000-0002-8178-6601","observed_orcids":["https://orcid.org/0000-0002-8178-6601"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ronald C. Petersen","raw_affiliation_strings":["Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","Mayo Clinic Rochester MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic , Rochester , Minnesota ; Neu- rogenetics Laboratory (Drs","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Radiology (Ms Shiung) , Laboratory Medicine and Pathology (Dr Parisi) , Psychiatry and Psychology (","institution_ids":[]},{"raw_affiliation_string":"Mayo Clinic Rochester MN","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.9942,"has_fulltext":true,"cited_by_count":66,"citation_normalized_percentile":{"value":0.93843375,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"67","issue":"2","first_page":"171","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9613999724388123,"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":0.9613999724388123,"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":0.0284000001847744,"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":0.00559999980032444,"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","display_name":"progranulin","score":0.9549999833106995},{"id":"https://openalex.org/keywords/hereditary-neurodegenerative-disorders","display_name":"hereditary neurodegenerative disease","score":0.8019999861717224},{"id":"https://openalex.org/keywords/frontotemporal-dementia","display_name":"frontotemporal dementia","score":0.7300000190734863},{"id":"https://openalex.org/keywords/amnestic-mild-cognitive-impairment","display_name":"amnestic mild cognitive impairment","score":0.8690000176429749},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8460000157356262},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.7760000228881836},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7459999918937683},{"id":"https://openalex.org/keywords/null-alleles","display_name":"null alleles","score":0.625},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.7850000262260437}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7547598481178284},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5998567342758179},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5813369750976562},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5200159549713135},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.47558701038360596},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.4657370150089264},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4106833338737488},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34298253059387207},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20470046997070312},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18532708287239075}],"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":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003072","descriptor_name":"Cognition Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D009483","descriptor_name":"Neuropsychological Tests","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":true},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D036341","descriptor_name":"Intercellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1001/archneurol.2010.113","doi":"https://doi.org/10.1001/archneurol.2010.113","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneurol.2010.113","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/799232/noc70068_171_177.pdf","source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:20142525","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20142525","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":"Archives of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2040936","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2902004","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:2902004","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2902004","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":"Arch Neurol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1001/archneurol.2010.113","doi":"https://doi.org/10.1001/archneurol.2010.113","is_oa":true,"landing_page_url":"https://doi.org/10.1001/archneurol.2010.113","pdf_url":"https://jamanetwork.com/journals/jamaneurology/articlepdf/799232/noc70068_171_177.pdf","source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1602968299","display_name":null,"funder_award_id":"AG 07216","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G2109665985","display_name":null,"funder_award_id":"AG-06786","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3261834735","display_name":null,"funder_award_id":"AG 16574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G388381678","display_name":"Alzheimers Disease Patient Registry","funder_award_id":"U01AG006786","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G517245306","display_name":"Evaluating and Extending Our Hypothetical Model of Alzheimer's Biomarkers","funder_award_id":"R01AG011378","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G5884129571","display_name":null,"funder_award_id":"AG16574","funder_id":"https://openalex.org/F4320309464","funder_display_name":"Mayo Foundation for Medical Education and Research"},{"id":"https://openalex.org/G6206414941","display_name":null,"funder_award_id":"AG-11378","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G9000863370","display_name":"Disease pathways in the population determined by amyloid, tau, and neurodegeneration imaging biomarkers","funder_award_id":"R37AG011378","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G95754455","display_name":"Mayo Alzheimer's Disease Research Center","funder_award_id":"P50AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320309464","display_name":"Mayo Foundation for Medical Education and Research","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2149803232.pdf","grobid_xml":"https://content.openalex.org/works/W2149803232.grobid-xml"},"referenced_works_count":29,"referenced_works":["https://openalex.org/W1511517753","https://openalex.org/W1552728233","https://openalex.org/W1964347491","https://openalex.org/W1970283678","https://openalex.org/W1974583546","https://openalex.org/W2003618511","https://openalex.org/W2006453255","https://openalex.org/W2010528085","https://openalex.org/W2016433356","https://openalex.org/W2027460468","https://openalex.org/W2028436804","https://openalex.org/W2052221517","https://openalex.org/W2063019912","https://openalex.org/W2082429191","https://openalex.org/W2091592263","https://openalex.org/W2105830106","https://openalex.org/W2107922507","https://openalex.org/W2115694724","https://openalex.org/W2132420392","https://openalex.org/W2134898935","https://openalex.org/W2136729000","https://openalex.org/W2146198156","https://openalex.org/W2155893343","https://openalex.org/W2158784790","https://openalex.org/W2168929061","https://openalex.org/W2324264492","https://openalex.org/W2624208018","https://openalex.org/W2799379448","https://openalex.org/W4249928895"],"related_works":["https://openalex.org/W1993871240","https://openalex.org/W2084017723","https://openalex.org/W1468565108","https://openalex.org/W2150523122","https://openalex.org/W2118388359","https://openalex.org/W1988650085","https://openalex.org/W2039273416","https://openalex.org/W2562322096","https://openalex.org/W1644121148","https://openalex.org/W2083963612"],"abstract_inverted_index":{"OBJECTIVE:":[0],"To":[1],"characterize":[2],"a":[3,6,12,33,36,50,60,161,172,179,184,210],"kindred":[4,34,51],"with":[5,11,17,35,52,54,59,78,98,148,156,209,217],"familial":[7,37],"neurodegenerative":[8,38],"disorder":[9],"associated":[10,58,208],"mutation":[13,62,211],"in":[14,24,63,84,111,120,135,141,166,212,224,231,249],"progranulin":[15],"(PGRN),":[16],"emphasis":[18],"on":[19],"the":[20,136,239,246],"unique":[21,61],"clinical":[22,197,233],"features":[23,99,140],"this":[25,190],"kindred.":[26],"DESIGN:":[27],"Antemortem":[28],"and":[29,152,183,214],"postmortem":[30],"characterization":[31],"of":[32,49,87,101,130,178,241],"disorder.":[39],"SETTING:":[40],"Multispecialty":[41],"group":[42],"academic":[43],"medical":[44],"center.":[45],"PATIENTS:":[46],"Affected":[47],"members":[48],"dementia":[53],"or":[55,90,203],"without":[56],"parkinsonism":[57],"PGRN.":[64],"MAIN":[65],"OUTCOME":[66],"MEASURE:":[67],"Genotype-phenotype":[68],"correlation.":[69],"RESULTS:":[70],"Of":[71],"10":[72],"affected":[73,137,194],"individuals":[74,96,143,195],"identified,":[75],"6":[76,142],"presented":[77,97],"early":[79],"amnestic":[80,91,204],"symptoms":[81],"which":[82,170,232],"resulted":[83],"initial":[85],"diagnoses":[86],"Alzheimer":[88,201],"disease":[89,202],"mild":[92,205],"cognitive":[93,206],"impairment.":[94],"Some":[95],"characteristic":[100],"frontotemporal":[102,145],"dementia.":[103],"Mean":[104],"age":[105,250],"at":[106,251],"onset":[107,252],"was":[108],"substantially":[109],"younger":[110],"generation":[112,121],"III":[113],"(75.8":[114],"years;":[115,124],"range,":[116,125],"69-80":[117],"years)":[118],"than":[119],"II":[122],"(60.7":[123],"55-66":[126],"years).":[127],"The":[128,243],"pattern":[129],"cerebral":[131],"atrophy":[132],"varied":[133],"widely":[134],"individuals.":[138],"Neuropathologic":[139],"included":[144],"lobar":[146],"degeneration":[147],"ubiquitin-positive":[149],"neuronal":[150],"cytoplasmic":[151],"intranuclear":[153],"inclusions":[154],"(FTLD-U":[155],"NII).":[157],"PGRN":[158,213],"analysis":[159],"revealed":[160],"single":[162],"base":[163],"pair":[164],"deletion":[165],"exon":[167],"2":[168],"(c.154delA),":[169],"caused":[171],"frameshift":[173],"(p.Thr52HisfsX2)":[174],"and,":[175],"therefore,":[176],"creation":[177],"premature":[180],"termination":[181],"codon":[182],"likely":[185],"null":[186],"allele.":[187],"CONCLUSIONS:":[188],"In":[189],"large":[191,247],"kindred,":[192],"most":[193],"had":[196],"presentations":[198,234],"that":[199],"resembled":[200],"impairment":[207],"underlying":[215],"FTLD-U":[216],"NII":[218],"neuropathologic":[219],"abnormalities.":[220],"This":[221],"finding":[222],"is":[223],"distinct":[225],"contrast":[226],"to":[227],"previously":[228],"reported":[229],"kindreds,":[230],"have":[235],"typically":[236],"been":[237],"within":[238],"spectrum":[240],"FTLD.":[242],"basis":[244],"for":[245],"difference":[248],"between":[253],"generations":[254],"requires":[255],"further":[256],"study.":[257]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":10},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":6}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}