{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,21]],"date-time":"2024-07-21T13:15:52Z","timestamp":1721567752425},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T00:00:00Z","timestamp":1370476800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0065215","type":"journal-article","created":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T21:19:22Z","timestamp":1370553562000},"page":"e65215","update-policy":"http:\/\/dx.doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":9,"title":["GTP Cyclohydrolase I and Tyrosine Hydroxylase Gene Mutations in Familial and Sporadic Dopa-Responsive Dystonia Patients"],"prefix":"10.1371","volume":"8","author":[{"given":"Chunyou","family":"Cai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wentao","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiyun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Ling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunquan","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benshu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,6,6]]},"reference":[{"key":"ref1","first-page":"215","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation","volume":"14","author":"M Segawa","year":"1976","journal-title":"Adv Neurol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1212\/WNL.58.12.1839","article-title":"Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14","volume":"58","author":"H Grotzsch","year":"2002","journal-title":"Neurology"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1001\/archneur.63.8.1185","article-title":"Broadening the phenotype of childhood-onset dopa-responsive dystonia","volume":"63","author":"EC Chaila","year":"2006","journal-title":"Arch Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1023\/A:1005539803576","article-title":"A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)","volume":"22","author":"RA Wevers","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng1194-236","article-title":"Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene","volume":"8","author":"H Ichinose","year":"1994","journal-title":"Nat Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00225091","article-title":"A point mutation in the tyrosine hydroxylase gene associated with Segawa\u2019s syndrome","volume":"95","author":"B Ludecke","year":"1995","journal-title":"Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1093\/clinchem\/45.12.2073","article-title":"Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency","volume":"45","author":"C Brautigam","year":"1999","journal-title":"Clin Chem"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/S0022-3476(00)90027-1","article-title":"Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy","volume":"136","author":"C Dionisi-Vici","year":"2000","journal-title":"J Pediatr"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1212\/WNL.50.4.1015","article-title":"Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia","volume":"50","author":"Y Furukawa","year":"1998","journal-title":"Neurology"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/ana.410350402","article-title":"Dopa-responsive dystonia","volume":"35","author":"DB Calne","year":"1994","journal-title":"Ann Neurol"},{"key":"ref11","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"S Rozen","year":"2000","journal-title":"Methods Mol Biol"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1097\/00001756-199902250-00008","article-title":"A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form","volume":"10","author":"S Brique","year":"1999","journal-title":"Neuroreport"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/B978-0-444-52014-2.00039-2","article-title":"Dopa-responsive dystonia","volume":"100","author":"M Segawa","year":"2011","journal-title":"Handb Clin Neurol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1002\/ana.410350317","article-title":"Biochemical and fluorodopa positron emission tomographic findings in an asymptomatic carrier of the gene for dopa-responsive dystonia","volume":"35","author":"H Takahashi","year":"1994","journal-title":"Ann Neurol"},{"key":"ref15","first-page":"459","article-title":"Atomic structure of GTP cyclohydrolase I. Structure","volume":"3","author":"H Nar","year":"1995"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1136\/jnnp.2004.051664","article-title":"Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency","volume":"77","author":"JL Van Hove","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1136\/jnnp.2008.155861","article-title":"Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients","volume":"80","author":"I Trender-Gerhard","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1001\/archneur.58.5.749","article-title":"Neurologic and psychiatric manifestations in a family with a mutation in exon 2 of the guanosine triphosphate-cyclohydrolase gene","volume":"58","author":"H Hahn","year":"2001","journal-title":"Arch Neurol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1002\/ana.410430512","article-title":"High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia","volume":"43","author":"D Steinberger","year":"1998","journal-title":"Ann Neurol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/1531-8257(199909)14:5<709::AID-MDS1001>3.0.CO;2-T","article-title":"Dopa-responsive dystonia: recent advances and remaining issues to be addressed","volume":"14","author":"Y Furukawa","year":"1999","journal-title":"Mov Disord"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/1531-8249(200004)47:4<517::AID-ANA17>3.0.CO;2-B","article-title":"Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene","volume":"47","author":"Y Furukawa","year":"2000","journal-title":"Ann Neurol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/mds.23364","article-title":"Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter","volume":"26","author":"M Bodzioch","year":"2011","journal-title":"Mov Disord"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s10048-006-0069-6","article-title":"Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia","volume":"8","author":"D Steinberger","year":"2007","journal-title":"Neurogenetics"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1212\/01.wnl.0000275527.35752.c5","article-title":"Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5","volume":"70","author":"C Wider","year":"2008","journal-title":"Neurology"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1002\/ajmg.b.31058","article-title":"High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia","volume":"153B","author":"YH Wu-Chou","year":"2010","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1136\/jnnp.2007.128413","article-title":"Frequency of GCH1 deletions in Dopa-responsive dystonia","volume":"79","author":"B Zirn","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1002\/mds.25147","article-title":"Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia","volume":"27","author":"J Theuns","year":"2012","journal-title":"Mov Disord"},{"key":"ref28","doi-asserted-by":"crossref","unstructured":"Yu L, Zhou H, Hu F, Xu Y (2012) Two novel mutations of the GTP cyclohydrolase I gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. Eur J Hum Genet.","DOI":"10.1038\/ejhg.2012.239"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0065215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T22:55:53Z","timestamp":1715468153000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0065215"}},"subtitle":[],"editor":[{"given":"Christian","family":"Wider","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,6,6]]},"references-count":28,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,6,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0065215","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,6]]}}}