{"id":"https://openalex.org/W2055159698","doi":"https://doi.org/10.1212/wnl.0b013e3181af7a33","title":"Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations","display_name":"Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations","publication_year":2009,"publication_date":"2009-07-27","ids":{"openalex":"https://openalex.org/W2055159698","doi":"https://doi.org/10.1212/wnl.0b013e3181af7a33","mag":"2055159698","pmid":"https://pubmed.ncbi.nlm.nih.gov/19636047","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2715211"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.0b013e3181af7a33","doi":"https://doi.org/10.1212/wnl.0b013e3181af7a33","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e3181af7a33","pdf_url":"https://n.neurology.org/content/neurology/73/4/279.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://n.neurology.org/content/neurology/73/4/279.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5030905089","display_name":"Nathan Pankratz","orcid":"https://orcid.org/0000-0001-5958-693X","observed_orcids":["https://orcid.org/0000-0001-5958-693X"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"N. Pankratz","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060880071","display_name":"Diane Kissell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. K. Kissell","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087301169","display_name":"Michael W. Pauciulo","orcid":"https://orcid.org/0000-0002-2141-2966","observed_orcids":["https://orcid.org/0000-0002-2141-2966"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. W. Pauciulo","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111621788","display_name":"Cheryl A. Halter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. A. Halter","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027287257","display_name":"Alice Rudolph","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Rudolph","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038961732","display_name":"Ronald F. Pfeiffer","orcid":"https://orcid.org/0000-0001-9517-7295","observed_orcids":["https://orcid.org/0000-0001-9517-7295","https://orcid.org/0000-0002-5011-6648"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R. F. Pfeiffer","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108387150","display_name":"Karen S. Marder","orcid":"https://orcid.org/0000-0003-0117-1429","observed_orcids":["https://orcid.org/0000-0003-0117-1429"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K. S. Marder","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048034644","display_name":"Tatiana Foroud","orcid":"https://orcid.org/0000-0002-5549-2212","observed_orcids":["https://orcid.org/0000-0002-5549-2212"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T. Foroud","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","Indiana University Bloomington"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]},{"raw_affiliation_string":"Indiana University Bloomington","institution_ids":["https://openalex.org/I4210119109"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065613111","display_name":"William C. Nichols","orcid":"https://orcid.org/0000-0003-1242-9237","observed_orcids":["https://orcid.org/0000-0003-1242-9237"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]},{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]},{"id":"https://openalex.org/I28792581","display_name":"University of Rochester Medicine","ror":"https://ror.org/00trqv719","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I28792581","https://openalex.org/I5388228"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":"US","type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]},{"id":"https://openalex.org/I5388228","display_name":"University of Rochester","ror":"https://ror.org/022kthw22","country_code":"US","type":"education","lineage":["https://openalex.org/I5388228"]},{"id":"https://openalex.org/I63135867","display_name":"University of Cincinnati","ror":"https://ror.org/01e3m7079","country_code":"US","type":"education","lineage":["https://openalex.org/I63135867"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W. C. Nichols","raw_affiliation_strings":["From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Indiana University Medical Center (N.P., C.A.H., T.F.), Indianapolis, IN; Cincinnati Children\u2019s Hospital Medical Center (D.K.K., M.W.P., W.C.N.), OH; University of Rochester (A.R.), Rochester, NY; University of Tennessee Health Science Center (R.F.P.), Memphis, TN; Columbia University and The Taub Institute (K.S.M.), New York, NY; and University of Cincinnati School of Medicine (W.C.N.), Cincinnati, OH","institution_ids":["https://openalex.org/I1285204247","https://openalex.org/I160606119","https://openalex.org/I28792581","https://openalex.org/I4394709130","https://openalex.org/I5388228","https://openalex.org/I63135867","https://openalex.org/I78577930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.254,"has_fulltext":true,"cited_by_count":73,"citation_normalized_percentile":{"value":0.93828691,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"73","issue":"4","first_page":"279","last_page":"286"},"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":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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":"Neurological disorders and treatments","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"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"}}],"keywords":[{"id":"https://openalex.org/keywords/parkin","display_name":"Parkin","score":0.9279999732971191},{"id":"https://openalex.org/keywords/pink1","display_name":"PINK1","score":0.6940000057220459},{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.8050000071525574},{"id":"https://openalex.org/keywords/familial-parkinson-s-disease","display_name":"familial Parkinson's disease","score":0.9509999752044678},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9869999885559082},{"id":"https://openalex.org/keywords/exon-deletion","display_name":"exon deletion","score":0.675000011920929},{"id":"https://openalex.org/keywords/exon-duplication","display_name":"exon duplication","score":0.9769999980926514},{"id":"https://openalex.org/keywords/point-mutations","display_name":"point mutations","score":0.8199999928474426},{"id":"https://openalex.org/keywords/insertion-deletion-mutations","display_name":"insertion-deletion mutations","score":0.8429999947547913},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.9470000267028809},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.628000020980835}],"concepts":[{"id":"https://openalex.org/C2777668072","wikidata":"https://www.wikidata.org/wiki/Q2472777","display_name":"Parkin","level":4,"score":0.9188863039016724},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.9030469655990601},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.7743266820907593},{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.6951410174369812},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6844759583473206},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6163774132728577},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.59135502576828},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5159669518470764},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.5128695964813232},{"id":"https://openalex.org/C102306862","wikidata":"https://www.wikidata.org/wiki/Q6943735","display_name":"Mutation frequency","level":4,"score":0.43389010429382324},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2798619270324707},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.24287527799606323},{"id":"https://openalex.org/C2779734285","wikidata":"https://www.wikidata.org/wiki/Q11085","display_name":"Parkinson's disease","level":3,"score":0.19260475039482117},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.1695282757282257},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.15264305472373962},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12047204375267029}],"mesh":[{"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":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018628","descriptor_name":"Gene Dosage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D044767","descriptor_name":"Ubiquitin-Protein Ligases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1212/wnl.0b013e3181af7a33","doi":"https://doi.org/10.1212/wnl.0b013e3181af7a33","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e3181af7a33","pdf_url":"https://n.neurology.org/content/neurology/73/4/279.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:1866193","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2715211","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:2715211","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2715211","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Neurology","raw_type":"Text"},{"id":"pmid:19636047","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19636047","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":"Neurology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1212/wnl.0b013e3181af7a33","doi":"https://doi.org/10.1212/wnl.0b013e3181af7a33","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0b013e3181af7a33","pdf_url":"https://n.neurology.org/content/neurology/73/4/279.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.5899999737739563}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1532560976","display_name":"Parkinson Disease Collaborative Study of Genetic Linkage","funder_award_id":"R01NS037167","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2793391738","display_name":"General Clinical Research Center","funder_award_id":"M01RR000750","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320306430","display_name":"National Parkinson Foundation","ror":"https://ror.org/005aa3k38"},{"id":"https://openalex.org/F4320307773","display_name":"GlaxoSmithKline","ror":"https://ror.org/01xsqw823"},{"id":"https://openalex.org/F4320308380","display_name":"Yale University","ror":"https://ror.org/03v76x132"},{"id":"https://openalex.org/F4320308970","display_name":"Teva Pharmaceutical Industries","ror":"https://ror.org/01wfv3m53"},{"id":"https://openalex.org/F4320322148","display_name":"Eisai","ror":"https://ror.org/04vvh7p27"},{"id":"https://openalex.org/F4320328183","display_name":"Parkinson Vereniging","ror":"https://ror.org/05k65ce46"},{"id":"https://openalex.org/F4320328455","display_name":"Ipsen","ror":"https://ror.org/00d801g55"},{"id":"https://openalex.org/F4320332679","display_name":"Parkinsonfonden","ror":"https://ror.org/0300wre24"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2055159698.pdf","grobid_xml":"https://content.openalex.org/works/W2055159698.grobid-xml"},"referenced_works_count":31,"referenced_works":["https://openalex.org/W201588874","https://openalex.org/W315304937","https://openalex.org/W1847168837","https://openalex.org/W1877873625","https://openalex.org/W1979659124","https://openalex.org/W1986896647","https://openalex.org/W2006851801","https://openalex.org/W2006958620","https://openalex.org/W2022503087","https://openalex.org/W2023513707","https://openalex.org/W2042201192","https://openalex.org/W2064996887","https://openalex.org/W2068410102","https://openalex.org/W2088528774","https://openalex.org/W2089800208","https://openalex.org/W2094202935","https://openalex.org/W2095728095","https://openalex.org/W2108134679","https://openalex.org/W2109040303","https://openalex.org/W2112519660","https://openalex.org/W2117335809","https://openalex.org/W2119520931","https://openalex.org/W2120973194","https://openalex.org/W2123052357","https://openalex.org/W2136000143","https://openalex.org/W2140413241","https://openalex.org/W2155977379","https://openalex.org/W2159529587","https://openalex.org/W2317804643","https://openalex.org/W2972597017","https://openalex.org/W4285719527"],"related_works":["https://openalex.org/W2031798027","https://openalex.org/W2121203799","https://openalex.org/W2095728095","https://openalex.org/W1986896647","https://openalex.org/W2042201192","https://openalex.org/W961780395","https://openalex.org/W2004696236","https://openalex.org/W2136000143","https://openalex.org/W2082077073","https://openalex.org/W2143688669"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Mutations":[1],"in":[2,12,26,53,96],"both":[3],"alleles":[4],"of":[5,23,29,47,51,56,70,108,146,164],"parkin":[6,32,52,73,115,129,202],"have":[7,183],"been":[8],"shown":[9],"to":[10,182],"result":[11],"Parkinson":[13],"disease":[14],"(PD).":[15],"However,":[16],"it":[17],"is":[18,247],"unclear":[19],"whether":[20,68],"haploinsufficiency":[21],"(presence":[22],"a":[24,54,71,76,135,143,160,175,216,236,241,248],"mutation":[25,79,130,178,219,238,243],"only":[27,215],"1":[28,128],"the":[30,35,105,157],"2":[31,114],"alleles)":[33],"increases":[34],"risk":[36,249],"for":[37,212,235,251],"PD.":[38],"METHODS:":[39],"We":[40,66,102,118],"performed":[41],"comprehensive":[42],"dosage":[43,84,165,177,237],"and":[44,63,131,140,254],"sequence":[45,77,137,148,218],"analysis":[46],"all":[48],"12":[49],"exons":[50],"sample":[55],"520":[57],"independent":[58,121],"patients":[59,122],"with":[60,100,110,123,125,134,174,190,198,200,214,221,258],"familial":[61,252],"PD":[62,124,253],"263":[64],"controls.":[65,101],"evaluated":[67],"presence":[69],"single":[72,136,147,176,217],"mutation,":[74,90],"either":[75],"(point":[78],"or":[80,83,88,113,194,225,244],"small":[81,245],"insertion/deletion)":[82],"(whole":[85],"exon":[86],"deletion":[87],"duplication)":[89],"was":[91,209],"found":[92],"at":[93,126,187,192,223,261],"increased":[94],"frequency":[95,145],"cases":[97,109,158,213],"as":[98],"compared":[99,104,197],"then":[103],"clinical":[106],"characteristics":[107],"0,":[111],"1,":[112],"mutations.":[116],"RESULTS:":[117],"identified":[119],"55":[120],"least":[127],"9":[132],"controls":[133,141],"mutation.":[138],"Cases":[139,173],"had":[142,159],"similar":[144],"mutations":[149,166,203],"(3.1%":[150],"vs":[151,168],"3.4%,":[152],"p":[153,170,205,228],"=":[154,171,206,229],"0.83);":[155],"however,":[156],"significantly":[161],"higher":[162],"rate":[163],"(2.6%":[167],"0%,":[169],"0.009).":[172],"were":[179],"more":[180],"likely":[181],"an":[184],"earlier":[185,259],"age":[186,260],"onset":[188,191,222],"(50%":[189],"<":[193,224],"=45":[195,226],"years)":[196],"those":[199],"no":[201],"(10%,":[204],"0.00002);":[207],"this":[208],"not":[210],"true":[211],"(25%":[220],"years,":[227],"0.06).":[230],"CONCLUSIONS:":[231],"Parkin":[232],"haploinsufficiency,":[233],"specifically":[234],"rather":[239],"than":[240],"point":[242],"insertion/deletion,":[246],"factor":[250],"may":[255],"be":[256],"associated":[257],"onset.":[262]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":6},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}
