{"id":"https://openalex.org/W2008771350","doi":"https://doi.org/10.1001/archneurol.2012.772","title":"Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72","display_name":"Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72","publication_year":2012,"publication_date":"2012-05-28","ids":{"openalex":"https://openalex.org/W2008771350","doi":"https://doi.org/10.1001/archneurol.2012.772","mag":"2008771350","pmid":"https://pubmed.ncbi.nlm.nih.gov/22637471","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3625860"},"language":"en","primary_location":{"id":"doi:10.1001/archneurol.2012.772","doi":"https://doi.org/10.1001/archneurol.2012.772","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneurol.2012.772","pdf_url":null,"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":"green","oa_url":"http://europepmc.org/articles/PMC3625860","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059019402","display_name":"Rodolfo Savica","orcid":"https://orcid.org/0000-0002-2543-0627","observed_orcids":["https://orcid.org/0000-0002-2543-0627"]},"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":"Rodolfo Savica","raw_affiliation_strings":["Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110409111","display_name":"Anahita Adeli","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":"Anahita Adeli","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s 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/A5043921358","display_name":"Prashanthi Vemuri","orcid":"https://orcid.org/0000-0003-4286-0589","observed_orcids":["https://orcid.org/0000-0003-4286-0589"]},"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":"Prashanthi Vemuri","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychology ( Rochester,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychology ( Rochester,","institution_ids":[]}]},{"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"]},{"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":"David S. Knopman","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychology ( Rochester,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychology ( Rochester,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104021151","display_name":"Mariely DeJesus\u2010Hernandez","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":"Mariely DeJesus-Hernandez","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Mayo Clinic Jacksonville (FL)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic Jacksonville (FL)","institution_ids":["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/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":"Rosa Rademakers","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Neuroscience"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Neuroscience","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045462803","display_name":"Julie A. Fields","orcid":"https://orcid.org/0000-0002-1282-9866","observed_orcids":["https://orcid.org/0000-0002-1282-9866"]},"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":"Julie A. Fields","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychiatry and Psychology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychiatry and Psychology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089684856","display_name":"Jennifer Louise Whitwell","orcid":"https://orcid.org/0000-0001-6914-1563","observed_orcids":["https://orcid.org/0000-0001-6914-1563"]},"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":"Jennifer Whitwell","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychology ( Rochester,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychology ( Rochester,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005099850","display_name":"Clifford R. Jack","orcid":"https://orcid.org/0000-0001-7916-622X","observed_orcids":["https://orcid.org/0000-0001-7916-622X"]},"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":"Clifford R. Jack","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychology ( Rochester,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychology ( Rochester,","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001313680","display_name":"Val J. Lowe","orcid":"https://orcid.org/0000-0002-5612-1667","observed_orcids":["https://orcid.org/0000-0002-5612-1667"]},"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":"Val Lowe","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Mayo Clinic;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic;","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","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"]},{"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":"Ronald C. Petersen","raw_affiliation_strings":["Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Psychology ( Rochester,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Psychology ( Rochester,","institution_ids":[]}]},{"author_position":"last","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, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","Mayo Clinic;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Neurology, Diagnostic Radiology, and Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida; Robert H. and Clarice Smith and Abigail Van Buren Alzheimer\u2019s Disease Research Program of the Mayo Foundation","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]},{"raw_affiliation_string":"Mayo Clinic;","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":2.291,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.8675582,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"69","issue":"9","first_page":"1164","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9994999766349792,"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":0.9994999766349792,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":9.999999747378752e-05,"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/c9orf72","display_name":"C9orf72","score":0.9779999852180481},{"id":"https://openalex.org/keywords/ggggcc-repeat-expansion","display_name":"GGGGCC repeat expansion","score":0.9350000023841858},{"id":"https://openalex.org/keywords/frontotemporal-dementia","display_name":"frontotemporal dementia","score":0.9409999847412109},{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":1.0},{"id":"https://openalex.org/keywords/parkinsonism","display_name":"parkinsonism","score":0.9610000252723694},{"id":"https://openalex.org/keywords/behavior-change","display_name":"behavior change","score":0.4300000071525574},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.7039999961853027},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7379999756813049},{"id":"https://openalex.org/keywords/family-studies","display_name":"family studies","score":0.4749999940395355},{"id":"https://openalex.org/keywords/neuropsychology","display_name":"neuropsychology","score":0.5989999771118164},{"id":"https://openalex.org/keywords/neuroimaging","display_name":"neuroimaging","score":0.9710000157356262}],"concepts":[{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.9679991006851196},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.7513594627380371},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.5839046835899353},{"id":"https://openalex.org/C58693492","wikidata":"https://www.wikidata.org/wiki/Q551875","display_name":"Neuroimaging","level":2,"score":0.5644269585609436},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.5246831774711609},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.493866503238678},{"id":"https://openalex.org/C2779198410","wikidata":"https://www.wikidata.org/wiki/Q3525894","display_name":"Personality changes","level":3,"score":0.4628177881240845},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.4309018850326538},{"id":"https://openalex.org/C2779140760","wikidata":"https://www.wikidata.org/wiki/Q18767","display_name":"Primary progressive aphasia","level":5,"score":0.42479923367500305},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.4144710898399353},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3900337815284729},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.3331598937511444},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2801395654678345},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2559319734573364}],"mesh":[{"descriptor_ui":"D000073885","descriptor_name":"C9orf72 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false},{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D009483","descriptor_name":"Neuropsychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"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":"D042622","descriptor_name":"DNA Repeat Expansion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1001/archneurol.2012.772","doi":"https://doi.org/10.1001/archneurol.2012.772","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneurol.2012.772","pdf_url":null,"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:22637471","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22637471","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:2626035","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3625860","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":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3625860","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3625860","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":"pmh:oai:europepmc.org:2626035","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3625860","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":"","raw_type":"Text"},"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":[{"id":"https://openalex.org/G104586243","display_name":null,"funder_award_id":"U01-AG-024904","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1052041916","display_name":null,"funder_award_id":"AG032306","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G1271187643","display_name":"Ethics of Surrogate Consent for Dementia Research","funder_award_id":"R01AG029550","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G3279029399","display_name":null,"funder_award_id":"AG029550","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/G5181078158","display_name":"Progranulin: Mutation and Regulation in Neurodegenerative disease","funder_award_id":"R01NS065782","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G5707695498","display_name":"Alzheimer's Disease Neuroimaging Initiative","funder_award_id":"5u01ag024904-10","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6903585458","display_name":"The Frontotemporal Lobar Degeneration Neuroimaging Initiative","funder_award_id":"R01AG032306","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G750909364","display_name":null,"funder_award_id":"U01 096917","funder_id":"https://openalex.org/F4320332505","funder_display_name":"U.S. Public Health Service"},{"id":"https://openalex.org/G7511995389","display_name":"Progranulin, TDP-43 and Cell Death","funder_award_id":"R01AG026251","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/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332505","display_name":"U.S. Public Health Service","ror":"https://ror.org/05xf94514"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1511517753","https://openalex.org/W1966569008","https://openalex.org/W1968616648","https://openalex.org/W1970283678","https://openalex.org/W1974583546","https://openalex.org/W1987011701","https://openalex.org/W1998593155","https://openalex.org/W2005731595","https://openalex.org/W2021422157","https://openalex.org/W2027460468","https://openalex.org/W2036079138","https://openalex.org/W2036427176","https://openalex.org/W2053756212","https://openalex.org/W2063406161","https://openalex.org/W2091592263","https://openalex.org/W2099213299","https://openalex.org/W2126671539","https://openalex.org/W2128030851","https://openalex.org/W2130202191","https://openalex.org/W2132200611","https://openalex.org/W2138190873","https://openalex.org/W2150523249","https://openalex.org/W2154945114","https://openalex.org/W2161938104","https://openalex.org/W4249928895"],"related_works":["https://openalex.org/W2150079582","https://openalex.org/W2108886029","https://openalex.org/W2154945114","https://openalex.org/W2056227992","https://openalex.org/W2025048601","https://openalex.org/W2136970365","https://openalex.org/W2108517056","https://openalex.org/W2322217035","https://openalex.org/W2043912251","https://openalex.org/W2621874094"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1,93],"hexanucleotide":[2,123],"repeat":[3,79],"in":[4,81,126,133],"the":[5,18,41,51,58,67,77,100,122,134,137,164,181,185],"chromosome":[6,36],"9":[7,37],"open":[8],"reading":[9],"frame":[10],"72":[11],"(C9ORF72)":[12],"gene":[13],"was":[14],"recently":[15],"discovered":[16],"as":[17],"underlying":[19],"genetic":[20],"cause":[21],"of":[22,47,70,95,104,136,169],"many":[23],"families":[24],"with":[25,50,73,76,102,172],"frontotemporal":[26],"dementia":[27],"(FTD)":[28],"and/or":[29,106],"amyotrophic":[30],"lateral":[31],"sclerosis":[32],"(ALS)":[33],"linked":[34],"to":[35,178],"(c9FTD/ALS).":[38],"We":[39],"report":[40,162],"clinical,":[42],"neuropsychologic,":[43,112],"and":[44,54,61,113,144,157,166,184],"neuroimaging":[45,114,167],"findings":[46],"a":[48,71,96,170],"family":[49,72,97,171],"C9ORF72":[52],"mutation":[53,101],"clinical":[55,165],"diagnoses":[56],"bridging":[57],"FTD,":[59],"parkinsonism,":[60,143],"ALS":[62],"spectrum.":[63],"OBJECTIVE:":[64],"To":[65],"characterize":[66],"antemortem":[68],"characteristics":[69,168],"c9FTD/ALS":[74],"associated":[75],"GGGGCC":[78],"expansion":[80,124],"C9ORF72.":[82,127],"DESIGN:":[83],"Clinical":[84],"series.":[85],"SETTING:":[86],"Tertiary":[87],"care":[88],"academic":[89],"medical":[90],"center.":[91],"PATIENTS":[92],"members":[94],"affected":[98],"by":[99],"features":[103],"FTD":[105],"ALS.":[107,147],"MAIN":[108],"OUTCOME":[109],"MEASURES:":[110],"Clinical,":[111],"assessments.":[115],"RESULTS:":[116],"All":[117,128],"3":[118],"examined":[119],"subjects":[120],"had":[121,129,141,146],"detected":[125],"personality/behavioral":[130],"changes":[131],"early":[132],"course":[135],"disease.":[138],"One":[139],"case":[140],"levodopa-unresponsive":[142],"1":[145],"Magnetic":[148],"resonance":[149],"imaging":[150],"showed":[151],"symmetric":[152],"bilateral":[153],"frontal,":[154],"temporal,":[155],"insular,":[156],"cingulate":[158],"atrophy.":[159],"CONCLUSIONS:":[160],"This":[161],"highlights":[163],"c9FTD/ALS.":[173],"Further":[174],"studies":[175],"are":[176],"needed":[177],"better":[179],"understand":[180],"phenotypical":[182],"variability":[183],"cliniconeuroimaging-neuropathologic":[186],"correlations.":[187]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}