{"id":"https://openalex.org/W7073612969","doi":null,"title":"Hereditary spastic paraplegia with thin corpus callosum: Reduction of the SPG11 interval and evidence for further genetic heterogeneity","display_name":"Hereditary spastic paraplegia with thin corpus callosum: Reduction of the SPG11 interval and evidence for further genetic heterogeneity","publication_year":null,"publication_date":null,"ids":{"openalex":"https://openalex.org/W7073612969"},"language":"en","primary_location":{"id":"pmh:oai:bibmed.ucla.edu.ve:T070000062875/18","doi":null,"is_oa":false,"landing_page_url":"http://bibmed.ucla.edu.ve/cgi-win/be_alex.exe?Acceso=T070000062875/18&Nombrebd=bmucla","pdf_url":null,"source":{"id":"https://openalex.org/S7407064131","display_name":"UCLA - Biblioteca de Ciencias de la Salud","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I19325673","host_organization_name":"Universidad Centroccidental Lisandro Alvarado","host_organization_lineage":["https://openalex.org/I19325673"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Lossos, A.","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Lossos, A.","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"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/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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/thin-corpus-callosum","display_name":"thin corpus callosum","score":0.9919999837875366},{"id":"https://openalex.org/keywords/spg11","display_name":"SPG11","score":0.875},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7670000195503235}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.7364000082015991},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.659600019454956},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.5674999952316284},{"id":"https://openalex.org/C2778067643","wikidata":"https://www.wikidata.org/wiki/Q166507","display_name":"Interval (graph theory)","level":2,"score":0.4968999922275543},{"id":"https://openalex.org/C111335779","wikidata":"https://www.wikidata.org/wiki/Q3454686","display_name":"Reduction (mathematics)","level":2,"score":0.45579999685287476},{"id":"https://openalex.org/C81917197","wikidata":"https://www.wikidata.org/wiki/Q628760","display_name":"Selection (genetic algorithm)","level":2,"score":0.38429999351501465},{"id":"https://openalex.org/C2777597760","wikidata":"https://www.wikidata.org/wiki/Q1049655","display_name":"Paraplegia","level":3,"score":0.37599998712539673},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.35749998688697815},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.3305000066757202},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.3160000145435333},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.28630000352859497},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.28110000491142273},{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.27970001101493835},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.2759999930858612},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2736000120639801},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2669000029563904},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.2667999863624573},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.2596000134944916},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.25589999556541443},{"id":"https://openalex.org/C2779901536","wikidata":"https://www.wikidata.org/wiki/Q945238","display_name":"Peripheral neuropathy","level":3,"score":0.2558000087738037},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.250900000333786}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:bibmed.ucla.edu.ve:T070000062875/18","doi":null,"is_oa":false,"landing_page_url":"http://bibmed.ucla.edu.ve/cgi-win/be_alex.exe?Acceso=T070000062875/18&Nombrebd=bmucla","pdf_url":null,"source":{"id":"https://openalex.org/S7407064131","display_name":"UCLA - Biblioteca de Ciencias de la Salud","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I19325673","host_organization_name":"Universidad Centroccidental Lisandro Alvarado","host_organization_lineage":["https://openalex.org/I19325673"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9476000070571899,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2245131443","https://openalex.org/W2718465037","https://openalex.org/W1531457955","https://openalex.org/W2987983083","https://openalex.org/W2234760420","https://openalex.org/W1986073484","https://openalex.org/W7095976397","https://openalex.org/W64809363","https://openalex.org/W2066321825","https://openalex.org/W12940679"],"abstract_inverted_index":null,"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-09-02T07:38:04.252551","created_date":"2025-10-10T00:00:00"}
