{"id":"https://openalex.org/W2885380475","doi":null,"title":"A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia","display_name":"A missense mutation in the KCTD17 gene causes autosomal dominant myoclonus-dystonia","publication_year":2015,"publication_date":"2015-06-01","ids":{"openalex":"https://openalex.org/W2885380475","mag":"2885380475"},"language":"en","primary_location":{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10030167","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/10030167/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"In: (Proceedings) 19th International Congress of Parkinson's Disease and Movement Disorders. (pp. S457-S458). WILEY-BLACKWELL (2015)","raw_type":"Proceedings paper"},"volume":null,"type":"conference-paper","indexed_in":[],"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/A5071436383","display_name":"NE Mencacci","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mencacci, NE","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113776808","display_name":"Ignacio Rubio\u2010Agusti","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rubio-Augusti, I","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008581315","display_name":"Anselm A. Zdebik","orcid":"https://orcid.org/0000-0002-2377-0783","observed_orcids":["https://orcid.org/0000-0002-2377-0783"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zdebik, A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020453219","display_name":"Friedrich Asmus","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Asmus, F","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059043303","display_name":"Marthe H. R. Ludtmann","orcid":"https://orcid.org/0000-0003-1051-6425","observed_orcids":["https://orcid.org/0000-0003-1051-6425"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ludtmann, M","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Hauser, AK","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hauser, AK","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068852782","display_name":"Vincent Plagnol","orcid":"https://orcid.org/0000-0002-5597-9215","observed_orcids":["https://orcid.org/0000-0002-5597-9215"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Plagnol, V","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021931896","display_name":"Alan Michael Pittman","orcid":"https://orcid.org/0000-0002-8112-2987","observed_orcids":["https://orcid.org/0000-0002-8112-2987"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pittman, A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042119624","display_name":"Sara Bandr\u00e9s\u2010Ciga","orcid":"https://orcid.org/0000-0003-0056-1361","observed_orcids":["https://orcid.org/0000-0003-0056-1361"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bandres-Ciga, S","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009136361","display_name":"Marc P. M. Soutar","orcid":"https://orcid.org/0000-0003-0008-9423","observed_orcids":["https://orcid.org/0000-0003-0008-9423"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Soutar, M","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072871755","display_name":"K. J. Peall","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Peall, K","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082416184","display_name":"Huw R. Morris","orcid":"https://orcid.org/0000-0002-5473-3774","observed_orcids":["https://orcid.org/0000-0002-5473-3774","https://orcid.org/0000-0001-9188-3934"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Morris, H","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044516423","display_name":"Daniah Trabzuni","orcid":"https://orcid.org/0000-0003-4826-9570","observed_orcids":["https://orcid.org/0000-0003-4826-9570"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Trabzuni, D","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042439287","display_name":"Mina Ryten","orcid":"https://orcid.org/0000-0001-9520-6957","observed_orcids":["https://orcid.org/0000-0001-9520-6957"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ryten, M","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043795166","display_name":"Mehmet Tekman","orcid":"https://orcid.org/0000-0002-4181-2676","observed_orcids":["https://orcid.org/0000-0002-4181-2676"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tekman, M","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064875792","display_name":"Horia\u00a0C. Stanescu","orcid":"https://orcid.org/0000-0001-5853-5030","observed_orcids":["https://orcid.org/0000-0001-5853-5030"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Stanescu, H","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043234105","display_name":"Robert Kleta","orcid":"https://orcid.org/0000-0002-0228-8656","observed_orcids":["https://orcid.org/0000-0002-0228-8656"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kleta, R","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065418690","display_name":"Miryam Carecchio","orcid":"https://orcid.org/0000-0002-0755-5477","observed_orcids":["https://orcid.org/0000-0002-0755-5477"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carecchio, M","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052212659","display_name":"Nardo Nardocci","orcid":"https://orcid.org/0000-0001-5863-5592","observed_orcids":["https://orcid.org/0000-0001-5863-5592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nardocci, N","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014835875","display_name":"Barbara Garavaglia","orcid":"https://orcid.org/0000-0003-4323-9145","observed_orcids":["https://orcid.org/0000-0003-4323-9145"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Garavaglia, B","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013051631","display_name":"Ebba Lohmann","orcid":"https://orcid.org/0000-0001-8695-7919","observed_orcids":["https://orcid.org/0000-0001-8695-7919"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lohmann, E","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067563236","display_name":"Anne Wei\u00dfbach","orcid":"https://orcid.org/0000-0002-3569-6242","observed_orcids":["https://orcid.org/0000-0002-3569-6242"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Weissbach, A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024773860","display_name":"Christine Klein","orcid":"https://orcid.org/0000-0003-2102-3431","observed_orcids":["https://orcid.org/0000-0003-2102-3431"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Klein, C","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hardy, J","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055353781","display_name":"Andrey Y. Abramov","orcid":"https://orcid.org/0000-0002-7646-7235","observed_orcids":["https://orcid.org/0000-0002-7646-7235"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Abramov, AY","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031389008","display_name":"Thomas Foltynie","orcid":"https://orcid.org/0000-0003-0752-1813","observed_orcids":["https://orcid.org/0000-0003-0752-1813"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Foltynie, T","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067744605","display_name":"Thomas Gasser","orcid":"https://orcid.org/0000-0002-1069-1146","observed_orcids":["https://orcid.org/0000-0002-1069-1146"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gasser, T","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103157576","display_name":"Kailash P. Bhatia","orcid":"https://orcid.org/0000-0001-8185-286X","observed_orcids":["https://orcid.org/0000-0001-8185-286X","https://orcid.org/0000-0001-8108-1196"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bhatia, KP","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Wood, NW","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Wood, NW","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":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.35478261,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.9775000214576721,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.9775000214576721,"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":0.0038999998942017555,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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":0.002300000051036477,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/myoclonus-dystonia","display_name":"myoclonus-dystonia","score":0.9020000100135803},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.8610000014305115},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9929999709129333},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.453000009059906},{"id":"https://openalex.org/keywords/dystonia","display_name":"dystonia","score":0.38100001215934753},{"id":"https://openalex.org/keywords/myoclonus","display_name":"myoclonus","score":0.878000020980835}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8401286005973816},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6633599996566772},{"id":"https://openalex.org/C2776538686","wikidata":"https://www.wikidata.org/wiki/Q116275","display_name":"Myoclonus","level":2,"score":0.6404705047607422},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.5825423002243042},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5120911598205566},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.42469578981399536},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.40468987822532654},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32479023933410645},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.30460745096206665}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10030167","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/10030167/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"In: (Proceedings) 19th International Congress of Parkinson's Disease and Movement Disorders. (pp. S457-S458). WILEY-BLACKWELL (2015)","raw_type":"Proceedings paper"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"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/W1891414773","https://openalex.org/W7160833809","https://openalex.org/W2909259569","https://openalex.org/W4237685250","https://openalex.org/W3048175739","https://openalex.org/W7152740555","https://openalex.org/W2046592475","https://openalex.org/W142166734","https://openalex.org/W4388209015","https://openalex.org/W7143411638"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2025-10-10T00:00:00"}
