{"id":"https://openalex.org/W2066960583","doi":"https://doi.org/10.1212/wnl.0b013e31826170f1","title":"C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository","display_name":"C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository","publication_year":2012,"publication_date":"2012-07-20","ids":{"openalex":"https://openalex.org/W2066960583","doi":"https://doi.org/10.1212/wnl.0b013e31826170f1","mag":"2066960583","pmid":"https://pubmed.ncbi.nlm.nih.gov/22815561","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3467648"},"language":"nl","primary_location":{"id":"doi:10.1212/wnl.0b013e31826170f1","doi":"https://doi.org/10.1212/wnl.0b013e31826170f1","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e31826170f1","pdf_url":"https://n.neurology.org/content/neurology/79/5/482.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://n.neurology.org/content/neurology/79/5/482.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082363917","display_name":"Nicola J. Rutherford","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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Nicola J. Rutherford","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"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/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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 C. Baker","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084106116","display_name":"Thomas B. Kryston","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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Thomas B. Kryston","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Patricia E. Brown","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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Patricia E. Brown","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015839919","display_name":"Catherine E. Lomen","orcid":"https://orcid.org/0000-0003-3320-5996","observed_orcids":["https://orcid.org/0000-0003-3320-5996"]},"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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Catherine Lomen-Hoerth","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048217446","display_name":"Khrista Boylan","orcid":"https://orcid.org/0000-0003-4137-6744","observed_orcids":["https://orcid.org/0000-0003-4137-6744"]},"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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Kevin Boylan","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022481370","display_name":"Zbigniew K. Wszo\u0142ek","orcid":"https://orcid.org/0000-0001-5487-1053","observed_orcids":["https://orcid.org/0000-0001-5487-1053"]},"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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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":"Zbigniew K. Wszolek","raw_affiliation_strings":["From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]},{"author_position":"last","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/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]},{"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 Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Departments of Neuroscience (N.J.R., M.D.-H., M.C.B., T.B.K., P.E.B., R.R.) and Neurology (K.B., Z.K.W.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (C.L.-H.), University of California San Francisco, San Francisco","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I180670191","https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.8593,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.84299978,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"79","issue":"5","first_page":"482","last_page":"483"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":1.0,"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":1.0,"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":0.0,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9070000052452087},{"id":"https://openalex.org/keywords/c9orf72","display_name":"C9orf72","score":0.9929999709129333},{"id":"https://openalex.org/keywords/hexanucleotide-repeat-expansion","display_name":"hexanucleotide repeat expansion","score":0.9819999933242798},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.41100001335144043},{"id":"https://openalex.org/keywords/motor-neuron-degeneration","display_name":"motor neuron degeneration","score":0.7789999842643738}],"concepts":[{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.9671713709831238},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.9280661344528198},{"id":"https://openalex.org/C2777615887","wikidata":"https://www.wikidata.org/wiki/Q15328137","display_name":"SOD1","level":4,"score":0.833544909954071},{"id":"https://openalex.org/C2780775167","wikidata":"https://www.wikidata.org/wiki/Q9606","display_name":"Spinal cord","level":2,"score":0.5685924291610718},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.47981762886047363},{"id":"https://openalex.org/C166729404","wikidata":"https://www.wikidata.org/wiki/Q7833742","display_name":"Transactive memory","level":2,"score":0.41402748227119446},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.39957529306411743},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3614329993724823},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.25504907965660095},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2265881896018982},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.12091845273971558},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.11374887824058533},{"id":"https://openalex.org/C180747234","wikidata":"https://www.wikidata.org/wiki/Q23373","display_name":"Cognitive psychology","level":1,"score":0.0},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.0}],"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":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"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":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042622","descriptor_name":"DNA Repeat Expansion","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1212/wnl.0b013e31826170f1","doi":"https://doi.org/10.1212/wnl.0b013e31826170f1","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e31826170f1","pdf_url":"https://n.neurology.org/content/neurology/79/5/482.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2717740","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3467648","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3467648","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3467648","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"Text"},{"id":"pmid:22815561","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22815561","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1212/wnl.0b013e31826170f1","doi":"https://doi.org/10.1212/wnl.0b013e31826170f1","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e31826170f1","pdf_url":"https://n.neurology.org/content/neurology/79/5/482.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1643660107","display_name":null,"funder_award_id":"RC2-NS070276","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2354759373","display_name":null,"funder_award_id":"NS057567","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G3244572043","display_name":null,"funder_award_id":"1RC2-NS070276","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G4991583746","display_name":"Biomarkers for Preclinical Parkinson's disease","funder_award_id":"R01NS057567","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"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/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/G5975502876","display_name":"PD iPS Cell Line Research Consortium","funder_award_id":"5rc2ns070276-02","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"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/G7774046770","display_name":"Genetics and Molecular Biology of Parkinsonism","funder_award_id":"P50NS072187","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000281426","display_name":null,"funder_award_id":"AG16574","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000328579","display_name":null,"funder_award_id":"1RC2NS070276","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/F4320306232","display_name":"ALS Association","ror":"https://ror.org/00mwp5989"},{"id":"https://openalex.org/F4320306679","display_name":"Dystonia Medical Research Foundation","ror":"https://ror.org/006wb1h58"},{"id":"https://openalex.org/F4320308604","display_name":"Biogen","ror":"https://ror.org/02jqkb192"},{"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/F4320310601","display_name":"CurePSP","ror":"https://ror.org/00qfsn733"},{"id":"https://openalex.org/F4320315425","display_name":"Avanir Pharmaceuticals","ror":"https://ror.org/02z28nb98"},{"id":"https://openalex.org/F4320315432","display_name":"Cytokinetics","ror":"https://ror.org/03tx9ss94"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"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":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2066960583.pdf","grobid_xml":"https://content.openalex.org/works/W2066960583.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W1488757165","https://openalex.org/W2027416732","https://openalex.org/W2053756212","https://openalex.org/W2076535829","https://openalex.org/W2150523249","https://openalex.org/W2152907114","https://openalex.org/W2154945114"],"related_works":["https://openalex.org/W1978578597","https://openalex.org/W2335233874","https://openalex.org/W4323967713","https://openalex.org/W2580918345","https://openalex.org/W2038834405","https://openalex.org/W2597610407","https://openalex.org/W2036917611","https://openalex.org/W2140664266","https://openalex.org/W1992723082","https://openalex.org/W2513590403"],"abstract_inverted_index":{"Amyotrophic":[0],"lateral":[1],"sclerosis":[2],"(ALS)":[3],"is":[4],"a":[5],"neurologic":[6],"disorder,":[7],"characterized":[8],"by":[9],"progressive":[10],"degeneration":[11],"of":[12],"both":[13],"upper":[14],"and":[15,22],"lower":[16],"motor":[17],"neurons":[18],"in":[19,31],"the":[20],"brain":[21],"spinal":[23],"cord.":[24],"Previous":[25],"genetic":[26],"studies":[27],"have":[28],"identified":[29],"mutations":[30],"Cu/Zn":[32],"superoxide":[33],"dismutase":[34],"(":[35],"SOD1":[36],"),":[37],"transactive":[38],"response":[39],"binding":[40],"protein":[41]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
