{"id":"https://openalex.org/W2771959232","doi":"https://doi.org/10.1212/nxg.0000000000000201","title":"Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome","display_name":"Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome","publication_year":2017,"publication_date":"2017-12-01","ids":{"openalex":"https://openalex.org/W2771959232","doi":"https://doi.org/10.1212/nxg.0000000000000201","mag":"2771959232","pmid":"https://pubmed.ncbi.nlm.nih.gov/29264393","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5733247"},"language":"en","primary_location":{"id":"doi:10.1212/nxg.0000000000000201","doi":"https://doi.org/10.1212/nxg.0000000000000201","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000000201","pdf_url":"https://ng.neurology.org/content/nng/3/6/e201.full.pdf","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ng.neurology.org/content/nng/3/6/e201.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046855704","display_name":"Hugo Botha","orcid":"https://orcid.org/0000-0003-4390-685X","observed_orcids":["https://orcid.org/0000-0003-4390-685X"]},"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":"Hugo Botha","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079323925","display_name":"NiCole A. Finch","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":"NiCole A. Finch","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087352076","display_name":"Ralitza H. Gavrilova","orcid":"https://orcid.org/0000-0002-4942-6358","observed_orcids":["https://orcid.org/0000-0002-4942-6358"]},"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":"Ralitza H. Gavrilova","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032297807","display_name":"Mary M. Machulda","orcid":"https://orcid.org/0000-0003-4834-5967","observed_orcids":["https://orcid.org/0000-0003-4834-5967"]},"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":"Mary M. Machulda","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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 J. Lowe","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008709586","display_name":"Christina M. Dheel","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":"Christina M. Dheel","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081952224","display_name":"Debra J. Gearhart","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":"Debra J. Gearhart","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","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":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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":true,"raw_author_name":"Bradley F. Boeve","raw_affiliation_strings":["From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Neurology (H.B., R.C.P., D.S.K., B.F.B.), Department of Clinical Genomic and Neurology (R.H.G.), Department of Psychiatry and Psychology (M.A.M., J.A.F.), Department of Nuclear Medicine (V.J.W.), Department of Radiology (C.R.J.), and Alzheimer's Disease Research Center (C.M.D., D.J.G.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Neuroscience (N.A.F., R.R.), Mayo Clinic, Jacksonville, FL","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5066352714"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"],"apc_list":{"value":3300,"currency":"USD","value_usd":3300},"apc_paid":{"value":3300,"currency":"USD","value_usd":3300},"fwci":0.1904,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.58322207,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"3","issue":"6","first_page":"e201","last_page":"e201"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.49459999799728394,"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":0.49459999799728394,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.2533999979496002,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.16279999911785126,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/grn-mutations","display_name":"GRN mutations","score":0.9879999756813049},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.7870000004768372},{"id":"https://openalex.org/keywords/corticobasal-syndrome","display_name":"corticobasal syndrome","score":0.8610000014305115},{"id":"https://openalex.org/keywords/aphasia","display_name":"aphasia","score":0.6330000162124634},{"id":"https://openalex.org/keywords/executive-dysfunction","display_name":"executive dysfunction","score":0.7319999933242798},{"id":"https://openalex.org/keywords/behavioral-variant-frontotemporal-dementia","display_name":"behavioral variant frontotemporal dementia","score":0.8820000290870667},{"id":"https://openalex.org/keywords/primary-progressive-aphasia","display_name":"primary progressive aphasia","score":0.953000009059906},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.890999972820282}],"concepts":[{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.8803589344024658},{"id":"https://openalex.org/C2779140760","wikidata":"https://www.wikidata.org/wiki/Q18767","display_name":"Primary progressive aphasia","level":5,"score":0.8534137010574341},{"id":"https://openalex.org/C2776936178","wikidata":"https://www.wikidata.org/wiki/Q1755684","display_name":"Corticobasal degeneration","level":4,"score":0.7043216228485107},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.7018212676048279},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5830371379852295},{"id":"https://openalex.org/C2779422653","wikidata":"https://www.wikidata.org/wiki/Q2836","display_name":"Aphasia","level":2,"score":0.569136917591095},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5217602849006653},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.414857417345047},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4010274410247803},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.389836847782135},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.38706275820732117},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2849608063697815},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25619813799858093},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.19550630450248718},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.18261602520942688}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1212/nxg.0000000000000201","doi":"https://doi.org/10.1212/nxg.0000000000000201","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000000201","pdf_url":"https://ng.neurology.org/content/nng/3/6/e201.full.pdf","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:4649766","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5733247","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:5733247","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5733247","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurol Genet","raw_type":"Text"},{"id":"pmid:29264393","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29264393","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. Genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1212/nxg.0000000000000201","doi":"https://doi.org/10.1212/nxg.0000000000000201","is_oa":true,"landing_page_url":"https://doi.org/10.1212/nxg.0000000000000201","pdf_url":"https://ng.neurology.org/content/nng/3/6/e201.full.pdf","source":{"id":"https://openalex.org/S2764805357","display_name":"Neurology Genetics","issn_l":"2376-7839","issn":["2376-7839"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"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/G3036763132","display_name":null,"funder_award_id":"AG016574","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G4741916379","display_name":null,"funder_award_id":"P50 AG016574","funder_id":"https://openalex.org/F4320306143","funder_display_name":"Mayo Clinic"},{"id":"https://openalex.org/G5484535055","display_name":null,"funder_award_id":"AG016574","funder_id":"https://openalex.org/F4320309464","funder_display_name":"Mayo Foundation for Medical Education and Research"},{"id":"https://openalex.org/G650779111","display_name":null,"funder_award_id":"NS092089","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G6621254701","display_name":"Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS)","funder_award_id":"U01AG045390","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G7861445666","display_name":"The Frontotemporal Lobar Degeneration Clinical Research Consortium","funder_award_id":"U54NS092089","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G8260152234","display_name":"Genetic Discovery and Pathobiology of Frontotemporal Lobar Degeneration and Related TDP-43 Proteinopathies","funder_award_id":"R35NS097261","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G8374629944","display_name":null,"funder_award_id":"AG045390","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"},{"id":"https://openalex.org/G9000005508","display_name":null,"funder_award_id":"AG016574","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000302427","display_name":null,"funder_award_id":"NS092089","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"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/F4320306143","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320307758","display_name":"Eli Lilly and Company","ror":"https://ror.org/01qat3289"},{"id":"https://openalex.org/F4320307765","display_name":"Pfizer","ror":"https://ror.org/01xdqrp08"},{"id":"https://openalex.org/F4320308604","display_name":"Biogen","ror":"https://ror.org/02jqkb192"},{"id":"https://openalex.org/F4320308668","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60"},{"id":"https://openalex.org/F4320308927","display_name":"Patient-Centered Outcomes Research Institute","ror":"https://ror.org/014q65q44"},{"id":"https://openalex.org/F4320309058","display_name":"ALS Therapy Alliance","ror":"https://ror.org/038m76n55"},{"id":"https://openalex.org/F4320309464","display_name":"Mayo Foundation for Medical Education and Research","ror":"https://ror.org/02qp3tb03"},{"id":"https://openalex.org/F4320311913","display_name":"Little Family Foundation","ror":"https://ror.org/02f09ny59"},{"id":"https://openalex.org/F4320313103","display_name":"American Academy of Clinical Neuropsychology","ror":"https://ror.org/03hh61824"},{"id":"https://openalex.org/F4320319650","display_name":"TauRx Pharmaceuticals","ror":"https://ror.org/015frs841"},{"id":"https://openalex.org/F4320320290","display_name":"University of Oxford","ror":"https://ror.org/052gg0110"},{"id":"https://openalex.org/F4320327918","display_name":"H. Lundbeck A/S","ror":"https://ror.org/0564cd633"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332193","display_name":"Genentech","ror":"https://ror.org/04gndp242"},{"id":"https://openalex.org/F4320333592","display_name":"Avid Radiopharmaceuticals","ror":"https://ror.org/00szax507"},{"id":"https://openalex.org/F4320334040","display_name":"Tau Consortium","ror":null},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2771959232.pdf","grobid_xml":"https://content.openalex.org/works/W2771959232.grobid-xml"},"referenced_works_count":9,"referenced_works":["https://openalex.org/W1981937737","https://openalex.org/W1993871240","https://openalex.org/W2027460468","https://openalex.org/W2115694724","https://openalex.org/W2117756648","https://openalex.org/W2134318672","https://openalex.org/W2144707045","https://openalex.org/W2149666022","https://openalex.org/W2152481146"],"related_works":["https://openalex.org/W2296766686","https://openalex.org/W2170797898","https://openalex.org/W1967671500","https://openalex.org/W2049607831","https://openalex.org/W2754769202","https://openalex.org/W2171981249","https://openalex.org/W1471128226","https://openalex.org/W2980570887","https://openalex.org/W2986264868","https://openalex.org/W2468651045"],"abstract_inverted_index":{"Mutations":[0],"in":[1,14,89],"the":[2,35,82],"granulin":[3],"(":[4],"GRN":[5],")":[6],"gene":[7],"on":[8],"chromosome":[9],"17":[10],"most":[11],"commonly":[12],"result":[13],"behavioral":[15],"variant":[16],"frontotemporal":[17],"dementia":[18,69,92],"(FTD)":[19],"or":[20],"primary":[21],"progressive":[22],"aphasia":[23],"(PPA),":[24],"although":[25],"a":[26,61,66,73],"wide":[27],"range":[28],"of":[29,37,46],"phenotypes":[30],"have":[31,41],"been":[32,42],"described.1,2":[33],"At":[34],"time":[36],"publication,":[38],"172":[39],"mutations":[40],"described":[43],"([molgen.vib-ua.be/FTDMutations][1]),":[44],"79":[45],"which":[47],"are":[48],"thought":[49],"to":[50],"be":[51],"pathogenic,":[52],"with":[53],"no":[54],"clear":[55],"genotype-phenotype":[56],"correlation.":[57],"Here,":[58],"we":[59],"describe":[60],"novel":[62],"mutation":[63],"presenting":[64],"as":[65],"dysexecutive,":[67],"aphasic":[68],"and":[70,84,91],"evolving":[71],"into":[72],"corticobasal":[74],"syndrome":[75],"(CBS)":[76],"phenotype.":[77],"Acknowledgment:":[78],"The":[79],"authors":[80],"thank":[81],"patient":[83],"her":[85],"family":[86],"for":[87],"participating":[88],"aging":[90],"research.":[93],"[1]:":[94],"http://www.molgen.vib-ua.be/FTDMutations":[95]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-12-22T00:00:00"}