{"id":"https://openalex.org/W2470164024","doi":null,"title":"[Progressive familial myoclonic epilepsy (Unverricht-Lundborg syndrome). Genetic, clinical, polygraphic and histopathologic findings].","display_name":"[Progressive familial myoclonic epilepsy (Unverricht-Lundborg syndrome). Genetic, clinical, polygraphic and histopathologic findings].","publication_year":1977,"publication_date":"1977-09-15","ids":{"openalex":"https://openalex.org/W2470164024","mag":"2470164024","pmid":"https://pubmed.ncbi.nlm.nih.gov/198702"},"language":"it","primary_location":{"id":"pmid:198702","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/198702","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":"Minerva medica","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"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/A5064674411","display_name":"Giuliana Giuliani","orcid":"https://orcid.org/0000-0003-1221-2417","observed_orcids":["https://orcid.org/0000-0003-1221-2417"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Giuliani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110394705","display_name":"G.F. Marchesi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G F Marchesi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024143813","display_name":"Angelo Quattrini","orcid":"https://orcid.org/0000-0002-8226-8320","observed_orcids":["https://orcid.org/0000-0002-8226-8320"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Quattrini","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110424282","display_name":"J\u00e9z\u00e9quel Am","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A M Jezequel","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M Koch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Koch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5035711185","display_name":"Pace Dp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D P Pace","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":0.512,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.62073106,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"68","issue":"42","first_page":"2923","last_page":"54"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.7031000256538391,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/T10094","display_name":"Epilepsy research and treatment","score":0.7031000256538391,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical 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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.2883000075817108,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.002400000113993883,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/unverricht-lundborg-syndrome","display_name":"Unverricht-Lundborg syndrome","score":0.9900000095367432},{"id":"https://openalex.org/keywords/genetic-basis","display_name":"genetic basis","score":0.5730000138282776},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.9710000157356262},{"id":"https://openalex.org/keywords/electroencephalography","display_name":"EEG","score":0.7549999952316284},{"id":"https://openalex.org/keywords/histopathology","display_name":"histopathology","score":0.746999979019165},{"id":"https://openalex.org/keywords/myoclonic-epilepsy","display_name":"myoclonic epilepsy","score":0.5619999766349792}],"concepts":[{"id":"https://openalex.org/C2781467325","wikidata":"https://www.wikidata.org/wiki/Q7248853","display_name":"Progressive myoclonus epilepsy","level":3,"score":0.7978825569152832},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6707862615585327},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.5759639739990234},{"id":"https://openalex.org/C2775859823","wikidata":"https://www.wikidata.org/wiki/Q11883686","display_name":"Myoclonic epilepsy","level":3,"score":0.5250422954559326},{"id":"https://openalex.org/C2776538686","wikidata":"https://www.wikidata.org/wiki/Q116275","display_name":"Myoclonus","level":2,"score":0.47812166810035706},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.372040331363678},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.33702731132507324},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.198940247297287},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1579485833644867}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003594","descriptor_name":"Cytoplasmic Granules","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D004569","descriptor_name":"Electroencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004576","descriptor_name":"Electromyography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004721","descriptor_name":"Endoplasmic Reticulum","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D004831","descriptor_name":"Epilepsies, Myoclonic","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006023","descriptor_name":"Glycoproteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D006025","descriptor_name":"Glycosaminoglycans","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009431","descriptor_name":"Neural Conduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012895","descriptor_name":"Sleep, REM","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D013116","descriptor_name":"Spinal Cord","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:198702","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/198702","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":"Minerva medica","raw_type":"Case Reports"},{"id":"mag:2470164024","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/198702","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"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/W2461952165","https://openalex.org/W3091023345","https://openalex.org/W2419059942","https://openalex.org/W2411463808","https://openalex.org/W2471300450","https://openalex.org/W2409975949","https://openalex.org/W2409375082","https://openalex.org/W2417649254","https://openalex.org/W2521275800","https://openalex.org/W2065951306"],"abstract_inverted_index":null,"counts_by_year":[{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-07-22T00:00:00"}