{"id":"https://openalex.org/W2167932693","doi":"https://doi.org/10.1002/mds.23637","title":"Milestones in PD genetics","display_name":"Milestones in PD genetics","publication_year":2011,"publication_date":"2011-05-01","ids":{"openalex":"https://openalex.org/W2167932693","doi":"https://doi.org/10.1002/mds.23637","mag":"2167932693","pmid":"https://pubmed.ncbi.nlm.nih.gov/21626549"},"language":"en","primary_location":{"id":"doi:10.1002/mds.23637","doi":"https://doi.org/10.1002/mds.23637","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mds.23637","pdf_url":null,"source":{"id":"https://openalex.org/S163027424","display_name":"Movement Disorders","issn_l":"0885-3185","issn":["0885-3185","1531-8257"],"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-1","poland-140","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":"Movement Disorders","raw_type":"journal-article"},"volume":null,"type":"review","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/A5067744605","display_name":"Thomas Gasser","orcid":"https://orcid.org/0000-0002-1069-1146","observed_orcids":["https://orcid.org/0000-0002-1069-1146"]},"institutions":[{"id":"https://openalex.org/I2801533059","display_name":"German Center for Neurodegenerative Diseases","ror":"https://ror.org/043j0f473","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I2801533059","https://openalex.org/I4405256427"]},{"id":"https://openalex.org/I4210141865","display_name":"Hertie Institute for Clinical Brain Research","ror":"https://ror.org/04zzwzx41","country_code":"DE","type":"other","lineage":["https://openalex.org/I4210094118","https://openalex.org/I4210141865","https://openalex.org/I8087733"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Thomas Gasser","raw_affiliation_strings":["Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, and German Center for Neurodegenerative Diseases, T\u00fcbingen, Germany. Thomas.Gasser@uni-tuebingen.de","Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, and German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, and German Center for Neurodegenerative Diseases, T\u00fcbingen, Germany. Thomas.Gasser@uni-tuebingen.de","institution_ids":["https://openalex.org/I2801533059","https://openalex.org/I4210141865"]},{"raw_affiliation_string":"Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, and German Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany","institution_ids":["https://openalex.org/I2801533059","https://openalex.org/I4210141865"]}]},{"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":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Reta Lilla Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reta Lilla Weston Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"last","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/I64189623","display_name":"Kitasato University","ror":"https://ror.org/00f2txz25","country_code":"JP","type":"education","lineage":["https://openalex.org/I64189623"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshikuni Mizuno","raw_affiliation_strings":["Department of Neuro-regenerative Medicine, Kitasato University School of Medicine, Kanagawa, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neuro-regenerative Medicine, Kitasato University School of Medicine, Kanagawa, Japan","institution_ids":["https://openalex.org/I64189623"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5067744605"],"corresponding_institution_ids":["https://openalex.org/I2801533059","https://openalex.org/I4210141865"],"apc_list":{"value":4480,"currency":"USD","value_usd":4480},"apc_paid":null,"fwci":2.2897,"has_fulltext":false,"cited_by_count":164,"citation_normalized_percentile":{"value":0.90960452,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":100},"biblio":{"volume":"26","issue":"6","first_page":"1042","last_page":"1048"},"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/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"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":9.999999747378752e-05,"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":0.9380000233650208},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.8320000171661377},{"id":"https://openalex.org/keywords/autosomal-dominant-parkinson-s-disease","display_name":"autosomal dominant Parkinson's disease","score":0.6690000295639038},{"id":"https://openalex.org/keywords/autosomal-recessive-parkinson-s-disease","display_name":"autosomal recessive Parkinson's disease","score":0.9940000176429749},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.5419999957084656},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.9959999918937683},{"id":"https://openalex.org/keywords/whole-genome-association-studies","display_name":"whole-genome association studies","score":0.843999981880188},{"id":"https://openalex.org/keywords/low-penetrance-variants","display_name":"low-penetrance variants","score":0.9200000166893005},{"id":"https://openalex.org/keywords/gaucher-disease","display_name":"Gaucher disease","score":0.8539999723434448},{"id":"https://openalex.org/keywords/disease-modifying-therapy","display_name":"disease-modifying therapy","score":0.5220000147819519},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.6729999780654907}],"concepts":[{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.6968051791191101},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.660748302936554},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.660392701625824},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.6583364009857178},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.632604718208313},{"id":"https://openalex.org/C2780674200","wikidata":"https://www.wikidata.org/wiki/Q420038","display_name":"Glucocerebrosidase","level":3,"score":0.5975525975227356},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5099285840988159},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.4784981310367584},{"id":"https://openalex.org/C2910691881","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Multifactorial Inheritance","level":5,"score":0.478044331073761},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.4415714144706726},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.43868210911750793},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.42216750979423523},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3775021433830261},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.27532678842544556},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.20308604836463928},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.136244535446167},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.09853020310401917},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.08591404557228088}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000266","qualifier_name":"history","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000266","qualifier_name":"history","is_major_topic":true},{"descriptor_ui":"D049673","descriptor_name":"History, 20th Century","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D049674","descriptor_name":"History, 21st Century","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/mds.23637","doi":"https://doi.org/10.1002/mds.23637","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mds.23637","pdf_url":null,"source":{"id":"https://openalex.org/S163027424","display_name":"Movement Disorders","issn_l":"0885-3185","issn":["0885-3185","1531-8257"],"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-1","poland-140","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":"Movement Disorders","raw_type":"journal-article"},{"id":"pmid:21626549","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21626549","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":"Movement disorders : official journal of the Movement Disorder Society","raw_type":"Historical Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1311329","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1311329/","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":"MOVEMENT DISORD , 26 (6) 1042 - 1048. (2011)","raw_type":"Article"},{"id":"pmh:oai:pub.dzne.de:136245","doi":null,"is_oa":false,"landing_page_url":"https://pub.dzne.de/record/136245","pdf_url":null,"source":{"id":"https://openalex.org/S7407051172","display_name":"DZNE Pub","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801533059","host_organization_name":"German Center for Neurodegenerative Diseases","host_organization_lineage":["https://openalex.org/I2801533059"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Movement disorders 26(6), 1042-1048 (2011). doi:10.1002/mds.23637","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G3327757157","display_name":null,"funder_award_id":"G-0907","funder_id":"https://openalex.org/F4320320021","funder_display_name":"Parkinson's UK"}],"funders":[{"id":"https://openalex.org/F4320320021","display_name":"Parkinson's UK","ror":"https://ror.org/02417p338"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":86,"referenced_works":["https://openalex.org/W1507318381","https://openalex.org/W1527671059","https://openalex.org/W1535972936","https://openalex.org/W1550876205","https://openalex.org/W1877873625","https://openalex.org/W1965778124","https://openalex.org/W1970687029","https://openalex.org/W1972097907","https://openalex.org/W1975581922","https://openalex.org/W1977166619","https://openalex.org/W1979460584","https://openalex.org/W1979659124","https://openalex.org/W1985811626","https://openalex.org/W1986383547","https://openalex.org/W1990332659","https://openalex.org/W1997709333","https://openalex.org/W1999893655","https://openalex.org/W2008242624","https://openalex.org/W2008886854","https://openalex.org/W2010095758","https://openalex.org/W2019021459","https://openalex.org/W2021097923","https://openalex.org/W2024267714","https://openalex.org/W2041365997","https://openalex.org/W2043792709","https://openalex.org/W2046015504","https://openalex.org/W2046398127","https://openalex.org/W2047395340","https://openalex.org/W2047565527","https://openalex.org/W2048008062","https://openalex.org/W2050849483","https://openalex.org/W2054922270","https://openalex.org/W2056022228","https://openalex.org/W2056127416","https://openalex.org/W2056363797","https://openalex.org/W2058723245","https://openalex.org/W2062636522","https://openalex.org/W2063127941","https://openalex.org/W2068038144","https://openalex.org/W2072066672","https://openalex.org/W2072094636","https://openalex.org/W2073954164","https://openalex.org/W2077400178","https://openalex.org/W2081941694","https://openalex.org/W2084420014","https://openalex.org/W2088528774","https://openalex.org/W2091265794","https://openalex.org/W2091852463","https://openalex.org/W2099708534","https://openalex.org/W2100300726","https://openalex.org/W2104382960","https://openalex.org/W2107310556","https://openalex.org/W2109040303","https://openalex.org/W2109656063","https://openalex.org/W2113507118","https://openalex.org/W2114438915","https://openalex.org/W2116200652","https://openalex.org/W2116229231","https://openalex.org/W2123431154","https://openalex.org/W2127513771","https://openalex.org/W2130453306","https://openalex.org/W2133496642","https://openalex.org/W2134129144","https://openalex.org/W2134412560","https://openalex.org/W2134829539","https://openalex.org/W2135384228","https://openalex.org/W2136314817","https://openalex.org/W2136388422","https://openalex.org/W2138020005","https://openalex.org/W2138311396","https://openalex.org/W2139369185","https://openalex.org/W2139638246","https://openalex.org/W2143161560","https://openalex.org/W2145036730","https://openalex.org/W2147078172","https://openalex.org/W2148641246","https://openalex.org/W2150469601","https://openalex.org/W2150656456","https://openalex.org/W2151513507","https://openalex.org/W2154757569","https://openalex.org/W2155015733","https://openalex.org/W2165710243","https://openalex.org/W2170281382","https://openalex.org/W2171873547","https://openalex.org/W2473580629","https://openalex.org/W4297407199"],"related_works":["https://openalex.org/W156292963","https://openalex.org/W2131251654","https://openalex.org/W2069344409","https://openalex.org/W2259808367","https://openalex.org/W4391133749","https://openalex.org/W2156168338","https://openalex.org/W2023795131","https://openalex.org/W2099281994","https://openalex.org/W2803861297","https://openalex.org/W7131648376"],"abstract_inverted_index":{"Over":[0],"the":[1,13,41,83,86,150],"last":[2],"25":[3],"years,":[4],"genetic":[5],"findings":[6,147],"have":[7,24,57,107],"profoundly":[8],"changed":[9],"our":[10],"views":[11],"on":[12],"etiology":[14,84],"of":[15,30,40,45,49,70,85,125,133],"Parkinson's":[16,50],"disease.":[17],"Linkage":[18],"studies":[19,56],"and":[20,142,158],"positional":[21],"cloning":[22],"strategies":[23],"identified":[25],"mutations":[26],"in":[27,66,74,82,99,136],"a":[28,79],"number":[29],"genes":[31,100,134],"that":[32,63],"cause":[33],"several":[34,75],"monogenic":[35],"autosomal-dominant":[36],"or":[37],"autosomal-recessive":[38],"forms":[39,48],"disorder.":[42],"Although":[43],"most":[44],"these":[46,126],"Mendelian":[47],"disease":[51,89,140],"are":[52,117],"rare,":[53],"whole-genome":[54],"association":[55],"more":[58,124],"recently":[59],"provided":[60],"convincing":[61],"evidence":[62],"low-penetrance":[64],"variants":[65,95],"at":[67],"least":[68],"some":[69,120],"these,":[71],"but":[72],"also":[73],"other":[76],"genes,":[77],"play":[78],"direct":[80],"role":[81],"common":[87],"sporadic":[88],"as":[90,102,110],"well.":[91],"In":[92],"addition,":[93],"rare":[94],"with":[96],"intermediate-effect":[97],"strengths":[98],"such":[101],"Gaucher's":[103],"disease-associated":[104],"glucocerebrosidase":[105],"A":[106],"been":[108],"discovered":[109],"important":[111],"risk":[112,141],"factors.":[113],"\"Next-generation\"":[114],"sequencing":[115],"technologies":[116],"expected":[118],"by":[119],"to":[121,139,154,161],"identify":[122,155],"many":[123],"variants.":[127],"Thus,":[128],"an":[129],"increasingly":[130],"complex":[131],"network":[132],"contributing":[135],"different":[137],"ways":[138],"progression":[143],"is":[144],"emerging.":[145],"These":[146],"may":[148],"provide":[149],"\"genetic":[151],"entry":[152],"points\"":[153],"molecular":[156],"targets":[157],"readouts":[159],"necessary":[160],"design":[162],"rational":[163],"disease-modifying":[164],"treatments.":[165]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":34},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":15},{"year":2014,"cited_by_count":13},{"year":2013,"cited_by_count":24},{"year":2012,"cited_by_count":18}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
