{"id":"https://openalex.org/W1978961729","doi":"https://doi.org/10.1016/j.jns.2013.07.2227","title":"A novel Csf1r mutation in hereditary diffuse leuko/INS;encephalopathy with spheroids","display_name":"A novel Csf1r mutation in hereditary diffuse leuko/INS;encephalopathy with spheroids","publication_year":2013,"publication_date":"2013-09-19","ids":{"openalex":"https://openalex.org/W1978961729","doi":"https://doi.org/10.1016/j.jns.2013.07.2227","mag":"1978961729"},"language":"en","primary_location":{"id":"doi:10.1016/j.jns.2013.07.2227","doi":"https://doi.org/10.1016/j.jns.2013.07.2227","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jns.2013.07.2227","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5076251595","display_name":"Deborah Van Melkebeke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"D. Van Melkebeke","raw_affiliation_strings":["Department of Neurology, University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048408999","display_name":"Rosa Rademakers","orcid":"https://orcid.org/0000-0002-4049-0863","observed_orcids":["https://orcid.org/0000-0002-4049-0863"]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. Rademakers","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064561010","display_name":"Matthew Baker","orcid":"https://orcid.org/0000-0002-0002-1907","observed_orcids":["https://orcid.org/0000-0002-0002-1907","https://orcid.org/0009-0001-2691-5757"]},"institutions":[{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. Baker","raw_affiliation_strings":["Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077355483","display_name":"Martin M. Y. Lammens","orcid":"https://orcid.org/0000-0002-3881-6692","observed_orcids":["https://orcid.org/0000-0002-3881-6692"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Lammens","raw_affiliation_strings":["Department of Neuropathology, UMC St Radboud, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuropathology, UMC St Radboud, Nijmegen, The Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"J. Maes","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Maes","raw_affiliation_strings":["Department of Neurology, St Rembert Ziekenhuis, Torhout, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, St Rembert Ziekenhuis, Torhout, Belgium","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061370666","display_name":"Dimitri Hemelsoet","orcid":"https://orcid.org/0000-0001-5403-3092","observed_orcids":["https://orcid.org/0000-0001-5403-3092"]},"institutions":[{"id":"https://openalex.org/I2801227569","display_name":"Ghent University Hospital","ror":"https://ror.org/00xmkp704","country_code":"BE","type":"healthcare","lineage":["https://openalex.org/I2801227569"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"D. Hemelsoet","raw_affiliation_strings":["Department of Neurology, University Hospital, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, University Hospital, Ghent, Belgium","institution_ids":["https://openalex.org/I2801227569"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3640,"currency":"USD","value_usd":3640},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.05551469,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"333","issue":null,"first_page":"e641","last_page":"e641"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.26420000195503235,"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"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.26420000195503235,"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/T11266","display_name":"Neuroinflammation and Neurodegeneration Mechanisms","score":0.10670000314712524,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/T13481","display_name":"Neurological diseases and metabolism","score":0.09319999814033508,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/hereditary-diffuse-leukoencephalopathy-with-spheroids","display_name":"hereditary diffuse leukoencephalopathy with spheroids","score":0.9300000071525574},{"id":"https://openalex.org/keywords/csf1r-mutation","display_name":"CSF1R mutation","score":0.8410000205039978},{"id":"https://openalex.org/keywords/colony-stimulating-factor-1-receptor","display_name":"colony-stimulating factor 1 receptor","score":0.9760000109672546},{"id":"https://openalex.org/keywords/adult-onset-leukoencephalopathy","display_name":"adult-onset leukoencephalopathy","score":0.890999972820282},{"id":"https://openalex.org/keywords/brain-biopsy","display_name":"brain biopsy","score":0.6380000114440918},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.7850000262260437}],"concepts":[{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.8950805068016052},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.587910532951355},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5741415619850159},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.49108171463012695},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4834774136543274},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.47214439511299133},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.43826648592948914},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3741638660430908},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2303396761417389},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17383810877799988},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.16380459070205688},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.08260920643806458}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jns.2013.07.2227","doi":"https://doi.org/10.1016/j.jns.2013.07.2227","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jns.2013.07.2227","pdf_url":null,"source":{"id":"https://openalex.org/S169054600","display_name":"Journal of the Neurological Sciences","issn_l":"0022-510X","issn":["0022-510X","1878-5883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the Neurological Sciences","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W52252223","https://openalex.org/W1982105475","https://openalex.org/W7099790845","https://openalex.org/W2998228064","https://openalex.org/W2787158310","https://openalex.org/W1994976336","https://openalex.org/W2410428791","https://openalex.org/W3159395014","https://openalex.org/W2029785007","https://openalex.org/W2018338123"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}
