{"id":"https://openalex.org/W2019021459","doi":"https://doi.org/10.1002/ana.20251","title":"Novel PINK1 mutations in early\u2010onset parkinsonism","display_name":"Novel PINK1 mutations in early\u2010onset parkinsonism","publication_year":2004,"publication_date":"2004-08-31","ids":{"openalex":"https://openalex.org/W2019021459","doi":"https://doi.org/10.1002/ana.20251","mag":"2019021459","pmid":"https://pubmed.ncbi.nlm.nih.gov/15349870"},"language":"en","primary_location":{"id":"doi:10.1002/ana.20251","doi":"https://doi.org/10.1002/ana.20251","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.20251","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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":null,"display_name":"Yasuko Hatano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasuko Hatano","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yuanzhe Li","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yuanzhe Li","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kenichi Sato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kenichi Sato","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077439573","display_name":"Shuichi Asakawa","orcid":"https://orcid.org/0000-0002-7599-0825","observed_orcids":["https://orcid.org/0000-0002-7599-0825"]},"institutions":[{"id":"https://openalex.org/I203951103","display_name":"Keio University","ror":"https://ror.org/02kn6nx58","country_code":"JP","type":"education","lineage":["https://openalex.org/I203951103"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shuichi Asakawa","raw_affiliation_strings":["Department of Molecular Biology, Keio University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Keio University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I203951103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020742985","display_name":"Yasuhisa Yamamura","orcid":"https://orcid.org/0000-0002-4267-800X","observed_orcids":["https://orcid.org/0000-0002-4267-800X"]},"institutions":[{"id":"https://openalex.org/I113306721","display_name":"Hiroshima University","ror":"https://ror.org/03t78wx29","country_code":"JP","type":"education","lineage":["https://openalex.org/I113306721"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yasuhiro Yamamura","raw_affiliation_strings":["Institute of Health Science, Hiroshima University School of Medicine, Hiroshima"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Health Science, Hiroshima University School of Medicine, Hiroshima","institution_ids":["https://openalex.org/I113306721"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000257232","display_name":"Hiroyuki Tomiyama","orcid":"https://orcid.org/0000-0003-1655-7877","observed_orcids":["https://orcid.org/0000-0003-1655-7877"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroyuki Tomiyama","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hiroyo Yoshino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroyo Yoshino","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067049693","display_name":"Masato Asahina","orcid":"https://orcid.org/0000-0002-4177-2379","observed_orcids":["https://orcid.org/0000-0002-4177-2379"]},"institutions":[{"id":"https://openalex.org/I159385669","display_name":"Chiba University","ror":"https://ror.org/01hjzeq58","country_code":"JP","type":"education","lineage":["https://openalex.org/I159385669"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Masato Asahina","raw_affiliation_strings":["Department of Neurology, Chiba University Graduate School of Medicine, Chiba"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Chiba University Graduate School of Medicine, Chiba","institution_ids":["https://openalex.org/I159385669"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062505521","display_name":"Susumu S. Kobayashi","orcid":"https://orcid.org/0000-0003-2262-4001","observed_orcids":["https://orcid.org/0000-0003-2262-4001"]},"institutions":[{"id":"https://openalex.org/I4210161392","display_name":"Kitano Hospital","ror":"https://ror.org/05rsbck92","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210161392"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Susumu Kobayashi","raw_affiliation_strings":["Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Research Institute, Osaka, Japan","institution_ids":["https://openalex.org/I4210161392"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034845140","display_name":"Sharon Hassin\u2010Baer","orcid":"https://orcid.org/0000-0001-7657-0171","observed_orcids":["https://orcid.org/0000-0001-7657-0171"]},"institutions":[{"id":"https://openalex.org/I2799810450","display_name":"Sheba Medical Center","ror":"https://ror.org/020rzx487","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799810450"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Sharon Hassin\u2010Baer","raw_affiliation_strings":["Parkinson's Disease and Movement Disorders Clinic, Department of Neurology, Chaim Sheba Medical Centre, Tel Hashomer, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Parkinson's Disease and Movement Disorders Clinic, Department of Neurology, Chaim Sheba Medical Centre, Tel Hashomer, Israel","institution_ids":["https://openalex.org/I2799810450"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Chin\u2010Song Lu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3020100970","display_name":"Chang Gung Memorial Hospital","ror":"https://ror.org/02verss31","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I3020100970"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Chin\u2010Song Lu","raw_affiliation_strings":["Movement Disorder Unit, First Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Movement Disorder Unit, First Department of Neurology, Chang Gung Memorial Hospital, Taipei, Taiwan","institution_ids":["https://openalex.org/I3020100970"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018528821","display_name":"Arlene R. Ng","orcid":"https://orcid.org/0000-0001-7733-6387","observed_orcids":["https://orcid.org/0000-0001-7733-6387"]},"institutions":[{"id":"https://openalex.org/I107139324","display_name":"Kagoshima University","ror":"https://ror.org/03ss88z23","country_code":"JP","type":"education","lineage":["https://openalex.org/I107139324"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Arlene R. Ng","raw_affiliation_strings":["Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Third Department of Internal Medicine, Kagoshima University School of Medicine, Kagoshima, Japan","institution_ids":["https://openalex.org/I107139324"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043206162","display_name":"Raymond L. Rosales","orcid":"https://orcid.org/0000-0001-6387-1389","observed_orcids":["https://orcid.org/0000-0001-6387-1389"]},"institutions":[{"id":"https://openalex.org/I82904351","display_name":"University of Santo Tomas","ror":"https://ror.org/00d25af97","country_code":"PH","type":"education","lineage":["https://openalex.org/I82904351"]}],"countries":["PH"],"is_corresponding":false,"raw_author_name":"Raymond L. Rosales","raw_affiliation_strings":["Department of Neurology and Psychiatry, University of Santo Tomas Faculty of Medicine and Surgery; Manila, Philippines","Department of Neurology and Psychiatry, University of Santo Tomas Faculty of Medicine and Surgery","Manila, Philippines"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology and Psychiatry, University of Santo Tomas Faculty of Medicine and Surgery; Manila, Philippines","institution_ids":["https://openalex.org/I82904351"]},{"raw_affiliation_string":"Department of Neurology and Psychiatry, University of Santo Tomas Faculty of Medicine and Surgery","institution_ids":["https://openalex.org/I82904351"]},{"raw_affiliation_string":"Manila, Philippines","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Nobuyoshi Shimizu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I203951103","display_name":"Keio University","ror":"https://ror.org/02kn6nx58","country_code":"JP","type":"education","lineage":["https://openalex.org/I203951103"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Nobuyoshi Shimizu","raw_affiliation_strings":["Department of Molecular Biology, Keio University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Biology, Keio University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I203951103"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035924543","display_name":"Tatsushi Toda","orcid":"https://orcid.org/0000-0002-0717-1123","observed_orcids":["https://orcid.org/0000-0002-0717-1123"]},"institutions":[{"id":"https://openalex.org/I4210086780","display_name":"Japan Science and Technology Agency","ror":"https://ror.org/00097mb19","country_code":"JP","type":"government","lineage":["https://openalex.org/I1319490839","https://openalex.org/I4210086780"]},{"id":"https://openalex.org/I98285908","display_name":"The University of Osaka","ror":"https://ror.org/035t8zc32","country_code":"JP","type":"education","lineage":["https://openalex.org/I98285908"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tatsushi Toda","raw_affiliation_strings":["CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan","Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan","institution_ids":["https://openalex.org/I4210086780"]},{"raw_affiliation_string":"Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita","institution_ids":["https://openalex.org/I98285908"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082083783","display_name":"Yoshikuni Mizuno","orcid":"https://orcid.org/0000-0002-1588-5134","observed_orcids":["https://orcid.org/0000-0002-1588-5134"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshikuni Mizuno","raw_affiliation_strings":["Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014705038","display_name":"Nobutaka Hattori","orcid":"https://orcid.org/0000-0002-2034-2556","observed_orcids":["https://orcid.org/0000-0002-2034-2556"]},"institutions":[{"id":"https://openalex.org/I34077901","display_name":"Juntendo University","ror":"https://ror.org/01692sz90","country_code":"JP","type":"education","lineage":["https://openalex.org/I34077901"]},{"id":"https://openalex.org/I4210086780","display_name":"Japan Science and Technology Agency","ror":"https://ror.org/00097mb19","country_code":"JP","type":"government","lineage":["https://openalex.org/I1319490839","https://openalex.org/I4210086780"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Nobutaka Hattori","raw_affiliation_strings":["CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan","Department of Neurology, Juntendo University School of Medicine, Tokyo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan","institution_ids":["https://openalex.org/I4210086780"]},{"raw_affiliation_string":"Department of Neurology, Juntendo University School of Medicine, Tokyo","institution_ids":["https://openalex.org/I34077901"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5014705038"],"corresponding_institution_ids":["https://openalex.org/I34077901","https://openalex.org/I4210086780"],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":17.3716,"has_fulltext":false,"cited_by_count":280,"citation_normalized_percentile":{"value":0.99641718,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"56","issue":"3","first_page":"424","last_page":"427"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9984999895095825,"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/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9984999895095825,"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/T13991","display_name":"Nuclear Receptors and Signaling","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.00019999999494757503,"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/pink1","display_name":"PINK1","score":0.9819999933242798},{"id":"https://openalex.org/keywords/park6","display_name":"PARK6","score":0.7670000195503235},{"id":"https://openalex.org/keywords/early-onset-parkinsonism","display_name":"early-onset parkinsonism","score":0.9610000252723694},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.9079999923706055},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.8799999952316284},{"id":"https://openalex.org/keywords/inbred-families","display_name":"inbred families","score":0.7630000114440918},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.5799999833106995},{"id":"https://openalex.org/keywords/parkin","display_name":"Parkin","score":0.6850000023841858}],"concepts":[{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.8240301609039307},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7986142635345459},{"id":"https://openalex.org/C2776804853","wikidata":"https://www.wikidata.org/wiki/Q18045837","display_name":"PINK1","level":5,"score":0.7308794856071472},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.714478075504303},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6199068427085876},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5656296014785767},{"id":"https://openalex.org/C2777668072","wikidata":"https://www.wikidata.org/wiki/Q2472777","display_name":"Parkin","level":4,"score":0.5633089542388916},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5605876445770264},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.49256688356399536},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2510155141353607},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2131747305393219},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.14223259687423706},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.08798211812973022},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.05269858241081238},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.04877340793609619},{"id":"https://openalex.org/C2779324830","wikidata":"https://www.wikidata.org/wiki/Q1806192","display_name":"Mitophagy","level":4,"score":0.0},{"id":"https://openalex.org/C190283241","wikidata":"https://www.wikidata.org/wiki/Q14599311","display_name":"Apoptosis","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000099202","descriptor_name":"PTEN-Induced Putative Kinase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011494","descriptor_name":"Protein Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D020734","descriptor_name":"Parkinsonian Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/ana.20251","doi":"https://doi.org/10.1002/ana.20251","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.20251","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:15349870","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15349870","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":"Annals of neurology","raw_type":"Journal Article"},{"id":"mag:2289096917","doi":null,"is_oa":false,"landing_page_url":"http://ci.nii.ac.jp/naid/500000312391?l=ja","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W1993733276","https://openalex.org/W2008242624","https://openalex.org/W2048897966","https://openalex.org/W2104382960","https://openalex.org/W2136388422","https://openalex.org/W2143298435","https://openalex.org/W2317804643"],"related_works":["https://openalex.org/W2137731644","https://openalex.org/W2107911378","https://openalex.org/W2165349828","https://openalex.org/W7096608360","https://openalex.org/W2387180550","https://openalex.org/W2162377247","https://openalex.org/W2167432021","https://openalex.org/W3158945403","https://openalex.org/W2145316942","https://openalex.org/W1985579354"],"abstract_inverted_index":{"PINK1":[0,51],"was":[1],"recently":[2],"found":[3],"to":[4,24,61],"be":[5,53],"associated":[6],"with":[7,65],"PARK6":[8,26],"as":[9],"the":[10,25,54,66],"causative":[11,58],"gene.":[12],"We":[13,28],"performed":[14],"mutation":[15],"analysis":[16],"in":[17,39,63],"eight":[18],"inbred":[19],"families":[20],"whose":[21],"haplotypes":[22],"link":[23],"region.":[27],"identified":[29],"six":[30,40],"pathogenic":[31],"mutations":[32,46],"(R246X,":[33],"H271Q,":[34],"E417G,":[35],"L347P,":[36],"and":[37],"Q239X/R492X)":[38],"unrelated":[41],"families.":[42],"All":[43],"sites":[44],"of":[45,69],"were":[47],"novel,":[48],"suggesting":[49],"that":[50],"may":[52],"second":[55],"most":[56],"common":[57],"gene":[59],"next":[60],"parkin":[62],"parkinsonism":[64],"recessive":[67],"mode":[68],"inheritance.":[70]},"counts_by_year":[{"year":2026,"cited_by_count":7},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":8},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":10},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":10}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2025-10-10T00:00:00"}
