{"id":"https://openalex.org/W2394535525","doi":null,"title":"Molecular genetics of Parkinson's disease.","display_name":"Molecular genetics of Parkinson's disease.","publication_year":2001,"publication_date":"2001-01-01","ids":{"openalex":"https://openalex.org/W2394535525","mag":"2394535525","pmid":"https://pubmed.ncbi.nlm.nih.gov/11553982"},"language":"en","primary_location":{"id":"pmid:11553982","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11553982","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":"Advances in neurology","raw_type":"Journal Article"},"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/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":true,"raw_author_name":"T Gasser","raw_affiliation_strings":["Neurologische Klinik und Poliklinik, Klinikum Grosshadern, 81377 M\u00fcnchen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurologische Klinik und Poliklinik, Klinikum Grosshadern, 81377 M\u00fcnchen, Germany","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5067744605"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.7928,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.84984259,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"86","issue":null,"first_page":"23","last_page":"32"},"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":0.9994999766349792,"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":0.9994999766349792,"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":9.999999747378752e-05,"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":0.0,"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/parkinson-s-disease","display_name":"Parkinson's disease","score":0.9980000257492065},{"id":"https://openalex.org/keywords/familial-parkinsonism","display_name":"familial parkinsonism","score":0.7559999823570251},{"id":"https://openalex.org/keywords/alpha-synuclein","display_name":"alpha-synuclein","score":0.902999997138977},{"id":"https://openalex.org/keywords/parkin","display_name":"Parkin","score":0.7279999852180481},{"id":"https://openalex.org/keywords/chromosome-4","display_name":"chromosome 4","score":0.6819999814033508},{"id":"https://openalex.org/keywords/chromosome-6","display_name":"chromosome 6","score":0.9570000171661377},{"id":"https://openalex.org/keywords/chromosome-2p13","display_name":"chromosome 2p13","score":0.9750000238418579},{"id":"https://openalex.org/keywords/chromosome-4p","display_name":"chromosome 4p","score":0.7680000066757202},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8140000104904175},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9490000009536743},{"id":"https://openalex.org/keywords/lewy-bodies","display_name":"Lewy bodies","score":0.9549999833106995},{"id":"https://openalex.org/keywords/protein-aggregation","display_name":"protein aggregation","score":0.8690000176429749},{"id":"https://openalex.org/keywords/molecular-pathogenesis","display_name":"molecular pathogenesis","score":0.7279999852180481},{"id":"https://openalex.org/keywords/nigral-degeneration","display_name":"nigral degeneration","score":0.7789999842643738},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.7319999933242798},{"id":"https://openalex.org/keywords/gene-cloning","display_name":"gene cloning","score":0.703000009059906}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7456371784210205},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7357771396636963},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5696073770523071},{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.5188009142875671},{"id":"https://openalex.org/C2777668072","wikidata":"https://www.wikidata.org/wiki/Q2472777","display_name":"Parkin","level":4,"score":0.5166276097297668},{"id":"https://openalex.org/C2779097696","wikidata":"https://www.wikidata.org/wiki/Q1822234","display_name":"Lewy body","level":4,"score":0.5152290463447571},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.4561779201030731},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.4549117386341095},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.42798006534576416},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.42505699396133423},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.4106115698814392},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.4044027030467987},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.36256730556488037},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.26005297899246216},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.19587436318397522},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.17700520157814026},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.10507294535636902},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008967","descriptor_name":"Molecular Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:11553982","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11553982","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":"Advances in neurology","raw_type":"Journal Article"},{"id":"mag:2394535525","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11553982","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":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","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/W2158532430","https://openalex.org/W73519675","https://openalex.org/W2283436091","https://openalex.org/W1983951782","https://openalex.org/W2038734706","https://openalex.org/W2415677488","https://openalex.org/W2053451234","https://openalex.org/W1516322523","https://openalex.org/W2028855894","https://openalex.org/W153033350"],"abstract_inverted_index":{"Over":[0],"the":[1,39,62,79,104,150,162,173,176,183,186,206,210],"last":[2],"few":[3,51],"years,":[4],"several":[5],"genes":[6,137,163],"for":[7,64,164],"monogenically":[8],"inherited":[9,147,197],"forms":[10,148],"of":[11,42,67,82,94,149,161,175,180,185,189,209],"Parkinson's":[12,86],"disease":[13],"have":[14,58,141],"been":[15,36,59,98,108,129,142],"mapped":[16,37,99,130],"and/or":[17],"cloned.":[18],"In":[19],"a":[20,31,50,75,169],"large":[21],"family":[22],"with":[23,119],"autosomal":[24,91],"dominant":[25,120],"inheritance":[26],"and":[27,45,49,84,103,110,125,134],"typical":[28,122],"Lewy-body":[29,123],"pathology,":[30,124],"first":[32],"gene":[33,63,89,106],"locus":[34,57],"has":[35,97,107,128,168],"to":[38,55,100,131,144,192,202],"long":[40],"arm":[41],"chromosome":[43,101,132,139],"4,":[44],"mutations":[46],"in":[47,61,70,78,117,172,195],"this":[48,56,68],"other":[52,145],"families":[53,118],"linked":[54,143],"identified":[60,109],"alpha-synuclein.":[65],"Aggregation":[66],"protein":[69],"Lewy":[71],"bodies":[72],"may":[73],"be":[74],"crucial":[76],"step":[77],"molecular":[80,187,207],"pathogenesis":[81,208],"familial":[83,165],"sporadic":[85,178,212],"disease.":[87,151],"A":[88,113],"causing":[90],"recessive":[92],"parkinsonism":[93],"juvenile":[95],"onset":[96],"6,":[102],"causative":[105],"named":[111],"parkin.":[112],"third":[114],"locus,":[115],"again":[116],"inheritance,":[121],"late":[126],"onset,":[127],"2p13,":[133],"two":[135],"additional":[136],"on":[138,205],"4p":[140],"dominantly":[146],"At":[152],"present,":[153],"there":[154],"is":[155,199],"no":[156],"direct":[157,170],"evidence":[158],"that":[159],"any":[160],"parkinsonian":[166],"syndromes":[167],"role":[171],"etiology":[174],"common":[177,211],"form":[179],"PD.":[181],"However,":[182],"elucidation":[184],"sequence":[188],"events":[190],"leading":[191],"nigral":[193],"degeneration":[194],"these":[196],"cases":[198],"likely":[200],"also":[201],"shed":[203],"light":[204],"disorder.":[213]},"counts_by_year":[{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}