{"id":"https://openalex.org/W1964786401","doi":"https://doi.org/10.1212/wnl.56.9.1213","title":"A major locus for several phenotypes of myoclonus\u2013dystonia on chromosome 7q","display_name":"A major locus for several phenotypes of myoclonus\u2013dystonia on chromosome 7q","publication_year":2001,"publication_date":"2001-05-08","ids":{"openalex":"https://openalex.org/W1964786401","doi":"https://doi.org/10.1212/wnl.56.9.1213","mag":"1964786401","pmid":"https://pubmed.ncbi.nlm.nih.gov/11342690"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.56.9.1213","doi":"https://doi.org/10.1212/wnl.56.9.1213","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.56.9.1213","pdf_url":null,"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":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010835736","display_name":"Marie Vidailhet","orcid":"https://orcid.org/0000-0002-2409-9143","observed_orcids":["https://orcid.org/0000-0002-2409-9143"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Vidailhet","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":null,"display_name":"J. Tassin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. Tassin","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107422462","display_name":"Franck Durif","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F. Durif","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056462296","display_name":"Annie Nivelon\u2010Chevallier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Nivelon\u2013Chevallier","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111717236","display_name":"Yves Agid","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Y. Agid","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Brice","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210102928","display_name":"H\u00f4pital Saint-Antoine","ror":"https://ror.org/01875pg84","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210102928"]},{"id":"https://openalex.org/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Du\u0308rr","raw_affiliation_strings":["From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U289 (Drs. Vidailhet, Tassin, Agid, Brice, and Du\u0308rr), Fe\u0301de\u0301ration de Neurologie (Drs. Agid, Brice, and Du\u0308rr), and Consultation de Ge\u0301ne\u0301tique (Drs. Brice and Du\u0308rr), Ho\u0302pital de la Salpe\u0302trie\u0300re; Service de Neurologie (Dr. Vidailhet), Ho\u0302pital Saint Antoine, Paris; Fe\u0301de\u0301ration de Neurologie (Dr. Durif), Ho\u0302pital Gabriel Montpied, Clermont Ferrand; and Centre de Ge\u0301ne\u0301tique (Dr. Nivelon\u2013Chevallier), Ho\u0302pital Enfants du Bocage, Dijon, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210102928","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.4914,"has_fulltext":false,"cited_by_count":60,"citation_normalized_percentile":{"value":0.94407361,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"56","issue":"9","first_page":"1213","last_page":"1216"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Neurological disorders and treatments","score":0.9955999851226807,"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/T10919","display_name":"Neurological disorders and treatments","score":0.9955999851226807,"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/T13966","display_name":"Neurological and metabolic disorders","score":0.0012000000569969416,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.0010000000474974513,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/myoclonus-dystonia","display_name":"myoclonus-dystonia","score":0.9909999966621399},{"id":"https://openalex.org/keywords/chromosome-7q","display_name":"chromosome 7q","score":0.7940000295639038},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.8619999885559082},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.7250000238418579},{"id":"https://openalex.org/keywords/phenotypic-heterogeneity","display_name":"phenotypic heterogeneity","score":0.7770000100135803},{"id":"https://openalex.org/keywords/dopamine-d2-receptor","display_name":"dopamine D2 receptor","score":0.6600000262260437},{"id":"https://openalex.org/keywords/lod-score","display_name":"lod score","score":0.3959999978542328}],"concepts":[{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.8919273614883423},{"id":"https://openalex.org/C2776538686","wikidata":"https://www.wikidata.org/wiki/Q116275","display_name":"Myoclonus","level":2,"score":0.8097331523895264},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.757064938545227},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.58124178647995},{"id":"https://openalex.org/C109748351","wikidata":"https://www.wikidata.org/wiki/Q657319","display_name":"Chromosome 7 (human)","level":4,"score":0.47215700149536133},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.46098288893699646},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4227336347103119},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.24245622754096985},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12089526653289795}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004421","descriptor_name":"Dystonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D009207","descriptor_name":"Myoclonus","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1212/wnl.56.9.1213","doi":"https://doi.org/10.1212/wnl.56.9.1213","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.56.9.1213","pdf_url":null,"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":"pmid:11342690","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11342690","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":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309652","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1549470101","https://openalex.org/W1965265115","https://openalex.org/W2028775634","https://openalex.org/W2048762042","https://openalex.org/W2061833150","https://openalex.org/W2067641611","https://openalex.org/W2067956047","https://openalex.org/W2119900699","https://openalex.org/W2146743879","https://openalex.org/W2443931064","https://openalex.org/W2614813399"],"related_works":["https://openalex.org/W2028775634","https://openalex.org/W1965416752","https://openalex.org/W2067641611","https://openalex.org/W2048762042","https://openalex.org/W2122146501","https://openalex.org/W2146743879","https://openalex.org/W55934074","https://openalex.org/W2061288773","https://openalex.org/W2070176715","https://openalex.org/W1987816423"],"abstract_inverted_index":{"Myoclonus--dystonia":[0],"is":[1,85],"a":[2,10,21,68,86],"genetically":[3],"heterogeneous":[4],"autosomal":[5],"dominant":[6],"disorder":[7],"caused":[8],"by":[9],"mutation":[11],"in":[12,36,77],"the":[13,31],"D2":[14],"dopamine":[15],"receptor":[16],"on":[17,23],"chromosome":[18,24,32,83],"11":[19],"and":[20],"locus":[22,88],"7q21-q31.":[25],"The":[26],"authors":[27],"tested":[28],"linkage":[29],"to":[30,58,71],"7q":[33],"candidate":[34],"region":[35],"four":[37,62,79],"families":[38,66],"with":[39,91],"either":[40],"myoclonic":[41],"dystonia":[42],"(n":[43,49],"=":[44,50],"3)":[45],"or":[46],"essential":[47],"myoclonus":[48],"1).":[51],"Age":[52],"at":[53],"onset":[54],"ranged":[55],"from":[56,64],"0.5":[57],"38":[59],"years.":[60],"Only":[61],"patients":[63],"two":[65],"had":[67],"positive":[69,76],"response":[70],"alcohol.":[72],"Lod":[73],"scores":[74],"were":[75],"all":[78],"families,":[80],"suggesting":[81],"that":[82],"7q21-q31":[84],"major":[87],"for":[89],"myoclonus-dystonia":[90],"several":[92],"phenotypes.":[93]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
