{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:48:20Z","timestamp":1791298100315,"version":"4.1.0"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1093\/brain\/awu022","type":"journal-article","created":{"date-parts":[[2014,3,10]],"date-time":"2014-03-10T20:59:32Z","timestamp":1394485172000},"page":"1107-1119","source":"Crossref","is-referenced-by-count":156,"title":["Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood"],"prefix":"10.1093","volume":"137","author":[{"given":"Joanne","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Zhen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Erreger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naseebullah","family":"Kakar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamil","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas L.","family":"Rider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Holmes Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A.","family":"Strauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"D\u2019Agnano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Carducci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Rotstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guntram","family":"Borck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten E. A.","family":"Reith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A.","family":"Kurian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,3,10]]},"reference":[{"key":"key\n\t\t\t\t20170425174518_awu022-B1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1080\/10673220490910844","article-title":"Neurobiologic processes in drug reward and addiction","volume":"12","author":"Adinoff","year":"2004","journal-title":"Harv Rev Psychiatry"},{"key":"key\n\t\t\t\t20170425174518_awu022-B2","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1212\/01.WNL.0000126440.16612.51","article-title":"Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF","volume":"62","author":"Assmann","year":"2004","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425174518_awu022-B3","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/j.ajhg.2012.10.011","article-title":"Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome","volume":"91","author":"Basel-Vanagaite","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425174518_awu022-B4","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1124\/mol.106.026120","article-title":"A comprehensive structure-based alignment of prokaryotic and eukaryotic neurotransmitter\/Na+ symporters (NSS) aids in the use of the LeuT structure to probe NSS structure and function","volume":"70","author":"Beuming","year":"2006","journal-title":"Mol Pharmacol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B5","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/S1474-4422(10)70280-5","article-title":"Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist","volume":"10","author":"Blackstone","year":"2011","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B6","doi-asserted-by":"crossref","first-page":"6048","DOI":"10.1523\/JNEUROSCI.5094-09.2010","article-title":"Dysregulation of dopamine transporters via dopamine D2 autoreceptors triggers anomalous dopamine efflux associated with attention-deficit hyperactivity disorder","volume":"30","author":"Bowton","year":"2010","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20170425174518_awu022-B7","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1111\/j.1471-4159.2004.02386.x","article-title":"Mutation of Trp84 and Asp313 of the dopamine transported reveals similar mode of binding interaction for GBR 12909 and benztropine as opposed to cocaine","volume":"89","author":"Chen","year":"2004","journal-title":"J Neurochem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B8","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1146\/annurev.ne.10.030187.000315","article-title":"Perspectives on the discovery of central monoaminergic neurotransmission","volume":"10","author":"Carlsson","year":"1987","journal-title":"Annu Rev Neurosci"},{"key":"key\n\t\t\t\t20170425174518_awu022-B9","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1097\/ICU.0b013e328358ba14","article-title":"Neuro-ophthalmology of movement disorders","volume":"23","author":"Clark","year":"2012","journal-title":"Curr Opin Ophthalm"},{"key":"key\n\t\t\t\t20170425174518_awu022-B10","doi-asserted-by":"crossref","first-page":"152","DOI":"10.33588\/rn.5603.2012408","article-title":"Medication-related oculogyric crises: a description of four cases and a review of the literature","volume":"56","author":"Darling","year":"2013","journal-title":"Rev Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B11","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1146\/annurev.pharmtox.43.050802.112309","article-title":"Monoamine transporters: from genes to behaviour","volume":"43","author":"Gainetdinov","year":"2003","journal-title":"Annu Rev Pharmacol Toxicol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B12","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.ejpn.2011.04.013","article-title":"Hypokinetic-rigid syndrome in children and inborn errors of metabolism","volume":"15","author":"Garc\u00eda-Cazorla","year":"2011","journal-title":"Eur J Paediatr Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B13","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1126\/science.294.5544.1024","article-title":"The neurobiology of slow synaptic transmission","volume":"294","author":"Greengard","year":"2001","journal-title":"Science"},{"key":"key\n\t\t\t\t20170425174518_awu022-B14","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/j.ajhg.2012.10.019","article-title":"Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA","volume":"91","author":"Haack","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425174518_awu022-B15","article-title":"Atypical dopamine transporter deficiency syndrome in two adult males with molecular characterisation of new transporter variants","author":"Henriksen","year":"2012","journal-title":"Soc Neurosci Meet Plann"},{"key":"key\n\t\t\t\t20170425174518_awu022-B16","first-page":"17691","article-title":"An intracellular interaction network regulates conformational transitions in the dopamine transporter","volume":"283","author":"Kniazeff","year":"2008","journal-title":"J BiolChem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B17","first-page":"1595","article-title":"Homozygous loss\u2013of\u2013function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism dystonia","volume":"119","author":"Kurian","year":"2009","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t20170425174518_awu022-B18","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/S1474-4422(10)70269-6","article-title":"Clinical and molecular characterisation of hereditary Dopamine Transporter deficiency syndrome: an observational cohort and experimental study","volume":"10","author":"Kurian","year":"2011","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B19","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","article-title":"The monoamine neurotransmitter disorders: an expanding range of neurological syndromes","volume":"10","author":"Kurian","year":"2011","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B20","first-page":"21012","article-title":"The role of N-glycosylation in function and surface trafficking of the human dopamine transporter","volume":"297","author":"Li","year":"2004","journal-title":"J BiolChem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B21","doi-asserted-by":"crossref","first-page":"7040","DOI":"10.1523\/JNEUROSCI.0473-08.2008","article-title":"Anomalous dopamine release associated with a human dopamine transporter coding variant","volume":"28","author":"Mazei-Robison","year":"2008","journal-title":"J Neurosci"},{"key":"key\n\t\t\t\t20170425174518_awu022-B22","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF03033354","article-title":"Dopaminergic dysbalance in distinct basal ganglia neurocircuits: implications for the pathophysiology of Parkinson\u2019s disease, schizophrenia and attention deficit hyperactivity disorder","volume":"10","author":"Mehler-Wex","year":"2006","journal-title":"Neurotox Res"},{"key":"key\n\t\t\t\t20170425174518_awu022-B23","doi-asserted-by":"crossref","first-page":"S19","DOI":"10.1016\/S1090-3798(13)70063-1","article-title":"Tyrosine hydroxylase: the Greek experience","volume":"15","author":"Pons","year":"2013","journal-title":"Eur J Paediatr Neurol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B24","doi-asserted-by":"crossref","first-page":"e28936","DOI":"10.1371\/journal.pone.0028936","article-title":"Genetic mapping and exome sequencing identify variants associated with five novel diseases","volume":"7","author":"Puffenberger","year":"2012","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170425174518_awu022-B25","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s11910-010-0136-0","article-title":"Rare causes of dystonia parkinsonism","volume":"10","author":"Schneider","year":"2010","journal-title":"Curr Neurol Neurosci Rep"},{"key":"key\n\t\t\t\t20170425174518_awu022-B26","doi-asserted-by":"crossref","first-page":"e16350","DOI":"10.1371\/journal.pone.0016350","article-title":"The substrate-driven transition to an inward-facing conformation in the functional mechanism of the dopamine transporter","volume":"6","author":"Shan","year":"2011","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170425174518_awu022-B27","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.molcel.2008.05.008","article-title":"The mechanism of a neurotransmitter: sodium symporter-inward release of Na+ and substrate is triggered by substrate in a second binding site","volume":"30","author":"Shi","year":"2008","journal-title":"Mol Cell"},{"key":"key\n\t\t\t\t20170425174518_awu022-B28","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1038\/nature06038","article-title":"Antidepressant binding site in a bacterial homologue of neurotransmitter transporters","volume":"448","author":"Singh","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170425174518_awu022-B29","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.tiv.2009.03.001","article-title":"Genotoxicity of the neurotransmitter dopamine in vitro","volume":"23","author":"Stopper","year":"2009","journal-title":"Toxicol In Vitro"},{"key":"key\n\t\t\t\t20170425174518_awu022-B30","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1111\/j.1471-4159.2011.07357.x","article-title":"SKF-83566, a D1-dopamine receptor antagonist, inhibits the dopamine transporter","volume":"118","author":"Stouffer","year":"2011","journal-title":"J Neurochem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B31","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.pneurobio.2005.04.003","article-title":"Mechanisms of neurotransmitter release by amphetamines: a review","volume":"75","author":"Sulzer","year":"2005","journal-title":"Prog Neurobiol"},{"key":"key\n\t\t\t\t20170425174518_awu022-B32","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1471-4159.2006.03719.x","article-title":"The dopamine transporter proteome","volume":"97","author":"Torres","year":"2006","journal-title":"J Neurochem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B33","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/nrn1008","article-title":"Plasma membrane monoamine transporters: structure, regulation and function","volume":"4","author":"Torres","year":"2003","journal-title":"Nat Rev Neurosci"},{"key":"key\n\t\t\t\t20170425174518_awu022-B34","doi-asserted-by":"crossref","first-page":"2731","DOI":"10.1074\/jbc.M201926200","article-title":"Oligomerization and trafficking of the human dopamine transporter. Mutational analysis identifies critical domains important for the functional expression of the transporter","volume":"278","author":"Torres","year":"2003","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20170425174518_awu022-B35","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1093\/brain\/awq087","article-title":"Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis","volume":"133","author":"Willemsen","year":"2010","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425174518_awu022-B36","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/nature03978","article-title":"Crystal structure of a bacterial homologue of Na+\/Cl- dependent neurotransmitter transporters","volume":"473","author":"Yamashita","year":"2005","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170425174518_awu022-B37","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1126\/science.1147614","article-title":"LeuT-desipramine structure reveals how antidepressants block neurotransmitter reuptake","volume":"317","author":"Zhou","year":"2007","journal-title":"Science"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/137\/4\/1107\/13799433\/awu022.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T21:04:04Z","timestamp":1746133444000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awu022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,10]]},"references-count":37,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,3,10]]},"published-print":{"date-parts":[[2014,4]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awu022","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3,10]]}}}