{"id":"https://openalex.org/W2054818048","doi":"https://doi.org/10.1002/mds.10432","title":"Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation","display_name":"Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation","publication_year":2003,"publication_date":"2003-06-12","ids":{"openalex":"https://openalex.org/W2054818048","doi":"https://doi.org/10.1002/mds.10432","mag":"2054818048","pmid":"https://pubmed.ncbi.nlm.nih.gov/12815654"},"language":"en","primary_location":{"id":"doi:10.1002/mds.10432","doi":"https://doi.org/10.1002/mds.10432","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mds.10432","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":"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/A5113859793","display_name":"Louis C.S. Tan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165996","display_name":"Parkinson's Institute and Clinical Center","ror":"https://ror.org/05w1mrz55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210165996"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Louis C. Tan","raw_affiliation_strings":["The Parkinson's Institute, Sunnyvale, California 84089, USA","The Parkinson's Institute, Sunnyvale, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California 84089, USA","institution_ids":["https://openalex.org/I4210165996"]},{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California, USA","institution_ids":["https://openalex.org/I4210165996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080273687","display_name":"Caroline M. Tanner","orcid":"https://orcid.org/0000-0002-3775-5082","observed_orcids":["https://orcid.org/0000-0002-3775-5082"]},"institutions":[{"id":"https://openalex.org/I4210165996","display_name":"Parkinson's Institute and Clinical Center","ror":"https://ror.org/05w1mrz55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210165996"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Caroline M. Tanner","raw_affiliation_strings":["The Parkinson's Institute, Sunnyvale, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California, USA","institution_ids":["https://openalex.org/I4210165996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100419021","display_name":"Rong Chen","orcid":"https://orcid.org/0000-0002-5522-6766","observed_orcids":["https://orcid.org/0000-0002-5522-6766"]},"institutions":[{"id":"https://openalex.org/I4210165996","display_name":"Parkinson's Institute and Clinical Center","ror":"https://ror.org/05w1mrz55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210165996"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rong Chen","raw_affiliation_strings":["The Parkinson's Institute, Sunnyvale, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California, USA","institution_ids":["https://openalex.org/I4210165996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050112775","display_name":"Piu Chan","orcid":"https://orcid.org/0000-0002-4620-1268","observed_orcids":["https://orcid.org/0000-0002-4620-1268"]},"institutions":[{"id":"https://openalex.org/I4210165996","display_name":"Parkinson's Institute and Clinical Center","ror":"https://ror.org/05w1mrz55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210165996"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Piu Chan","raw_affiliation_strings":["The Parkinson's Institute, Sunnyvale, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California, USA","institution_ids":["https://openalex.org/I4210165996"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050824228","display_name":"Matthew James Farrer","orcid":"https://orcid.org/0000-0003-1159-5321","observed_orcids":["https://orcid.org/0000-0003-1159-5321"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Matthew Farrer","raw_affiliation_strings":["Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"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/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA","institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112208182","display_name":"J. William Langston","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165996","display_name":"Parkinson's Institute and Clinical Center","ror":"https://ror.org/05w1mrz55","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210165996"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"J. William Langston","raw_affiliation_strings":["The Parkinson's Institute, Sunnyvale, California, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Parkinson's Institute, Sunnyvale, California, USA","institution_ids":["https://openalex.org/I4210165996"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5112208182"],"corresponding_institution_ids":["https://openalex.org/I4210165996"],"apc_list":{"value":4480,"currency":"USD","value_usd":4480},"apc_paid":null,"fwci":2.8656,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.90085401,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"18","issue":"7","first_page":"758","last_page":"763"},"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":0.9976000189781189,"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":0.9976000189781189,"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/T10919","display_name":"Deep Brain Stimulation and Movement Disorders","score":0.0010999999940395355,"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/T13481","display_name":"Neurological diseases and metabolism","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/parkin-gene","display_name":"parkin gene","score":0.9120000004768372},{"id":"https://openalex.org/keywords/parkin","display_name":"Parkin","score":0.5619999766349792},{"id":"https://openalex.org/keywords/heterozygous-variants","display_name":"heterozygous mutation","score":0.9200000166893005},{"id":"https://openalex.org/keywords/exon-3-deletion","display_name":"exon 3 deletion","score":0.8240000009536743},{"id":"https://openalex.org/keywords/familial-parkinsonism","display_name":"familial parkinsonism","score":0.6980000138282776},{"id":"https://openalex.org/keywords/dystonia-parkinsonism","display_name":"dystonia-parkinsonism","score":0.9079999923706055},{"id":"https://openalex.org/keywords/clinical-phenotype-variability","display_name":"clinical phenotype variability","score":0.6209999918937683},{"id":"https://openalex.org/keywords/autosomal-recessive-parkinsonism","display_name":"autosomal recessive parkinsonism","score":0.8090000152587891},{"id":"https://openalex.org/keywords/carrier-screening","display_name":"carrier screening","score":0.3779999911785126},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7210000157356262}],"concepts":[{"id":"https://openalex.org/C2776525014","wikidata":"https://www.wikidata.org/wiki/Q1531991","display_name":"Parkinsonism","level":3,"score":0.9181549549102783},{"id":"https://openalex.org/C2778559928","wikidata":"https://www.wikidata.org/wiki/Q906492","display_name":"Dystonia","level":2,"score":0.8267147541046143},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.8265241384506226},{"id":"https://openalex.org/C2777668072","wikidata":"https://www.wikidata.org/wiki/Q2472777","display_name":"Parkin","level":4,"score":0.7297744750976562},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.6441927552223206},{"id":"https://openalex.org/C2776194465","wikidata":"https://www.wikidata.org/wiki/Q31184","display_name":"Sibling","level":2,"score":0.5770771503448486},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5387590527534485},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4998645782470703},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.49306175112724304},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47740045189857483},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.45875123143196106},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3675358295440674},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.3640075922012329},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.30350375175476074},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2676365375518799},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.21992939710617065},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.19159075617790222},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11771577596664429},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000367","descriptor_name":"Age Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003704","descriptor_name":"Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004198","descriptor_name":"Disease Susceptibility","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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":"D009460","descriptor_name":"Neurologic Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","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},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020029","descriptor_name":"Base Pairing","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020821","descriptor_name":"Dystonic Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D044767","descriptor_name":"Ubiquitin-Protein Ligases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/mds.10432","doi":"https://doi.org/10.1002/mds.10432","is_oa":false,"landing_page_url":"https://doi.org/10.1002/mds.10432","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:12815654","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12815654","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":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:31330","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/31330/","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 DISORDERS , 18 (7) pp. 758-763. (2003)","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1550876205","https://openalex.org/W1877873625","https://openalex.org/W1965111825","https://openalex.org/W1978526789","https://openalex.org/W1981515077","https://openalex.org/W1997709333","https://openalex.org/W2011339216","https://openalex.org/W2031642030","https://openalex.org/W2056127416","https://openalex.org/W2077400178","https://openalex.org/W2086787068","https://openalex.org/W2101362932","https://openalex.org/W2109040303","https://openalex.org/W2111606299","https://openalex.org/W2116123077","https://openalex.org/W2117335809","https://openalex.org/W2122780401","https://openalex.org/W2123052357","https://openalex.org/W2151198603","https://openalex.org/W2153348456","https://openalex.org/W2155977379","https://openalex.org/W2158674636","https://openalex.org/W2317804643"],"related_works":["https://openalex.org/W2095728095","https://openalex.org/W2028399001","https://openalex.org/W2042201192","https://openalex.org/W2317804643","https://openalex.org/W2124914823","https://openalex.org/W2101463726","https://openalex.org/W2098525070","https://openalex.org/W2038915549","https://openalex.org/W1976289961","https://openalex.org/W2075039359"],"abstract_inverted_index":{"Parkin":[0],"gene":[1,28,178],"mutations":[2],"have":[3],"been":[4],"detected":[5],"in":[6,22,42,50,59,99,160],"families":[7],"with":[8,182,188],"early-onset":[9],"autosomal":[10],"recessive":[11],"parkinsonism.":[12,168],"We":[13],"report":[14],"a":[15,51,72,141,176,189],"novel":[16],"heterozygous":[17],"40":[18],"base":[19],"pair":[20,159],"deletion":[21],"exon":[23],"3":[24],"of":[25,33,46,62,110,119,135,154,193],"the":[26,31,56,60,93,103,150,161],"parkin":[27,104,177],"that":[29,173],"increases":[30],"susceptibility":[32],"carriers":[34],"to":[35,44,92],"develop":[36],"parkinsonism/dystonia":[37],"and":[38,48,69,79,87,108,133],"manifests":[39],"remarkable":[40],"variability":[41],"regard":[43],"age":[45,120,127,192],"onset":[47,115],"phenotype":[49],"single":[52],"family.":[53],"After":[54],"identifying":[55],"new":[57],"mutation":[58,179],"proband":[61,107],"this":[63],"kindred,":[64],"family":[65,88],"members":[66,89,98],"were":[67,90],"contacted":[68],"evaluated":[70],"by":[71],"movement":[73],"disorders":[74],"specialist":[75],"using":[76],"standardized":[77],"protocols":[78],"prospectively":[80],"set":[81],"diagnostic":[82],"criteria.":[83],"Importantly,":[84],"examining":[85],"physicians":[86],"blinded":[91],"genetic":[94],"testing.":[95],"Five":[96],"affected":[97],"two":[100],"generations":[101],"carried":[102],"mutation.":[105],"The":[106],"one":[109],"his":[111],"brothers":[112],"had":[113,124,164],"disease":[114,125],"at":[116,126],"24":[117],"years":[118,137,148],"while":[121,149],"another":[122,139],"brother":[123],"44.":[128],"One":[129],"exhibited":[130],"multi-focal":[131],"dystonia":[132],"parkinsonism":[134,145,187],"17":[136],"duration,":[138],"suffered":[140,152],"unilateral":[142],"slowly":[143],"progressive":[144],"over":[146],"13":[147],"third":[151],"dystonia-parkinsonism":[153,183],"recent":[155],"onset.":[156,194],"A":[157],"sibling":[158],"preceding":[162],"generation":[163],"mild":[165],"previously":[166],"undiagnosed":[167],"Clinicians":[169],"should":[170],"be":[171],"aware":[172],"patients":[174],"carrying":[175],"may":[180],"present":[181],"or":[184],"very":[185],"subtle":[186],"markedly":[190],"varied":[191]},"counts_by_year":[{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"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"}