{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T08:18:57Z","timestamp":1777623537748,"version":"3.51.4"},"reference-count":102,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T00:00:00Z","timestamp":1486080000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T00:00:00Z","timestamp":1486080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["U54 NS05701"],"award-info":[{"award-number":["U54 NS05701"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["U54 TR001456"],"award-info":[{"award-number":["U54 TR001456"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neural Transm"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1007\/s00702-016-1656-9","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T16:57:22Z","timestamp":1486141042000},"page":"417-430","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":73,"title":["Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing"],"prefix":"10.1007","volume":"124","author":[{"given":"H. A.","family":"Jinnah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron","family":"Alterman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim K.","family":"Krauss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Moro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Raike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,3]]},"reference":[{"key":"1656_CR1","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1002\/mds.22597","volume":"24","author":"A Albanese","year":"2009","unstructured":"Albanese A, Lalli S (2009) Is this dystonia? Mov Disord 24:1725\u20131731","journal-title":"Mov Disord"},{"key":"1656_CR2","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1002\/mds.25475","volume":"28","author":"A Albanese","year":"2013","unstructured":"Albanese A, Bhatia K, Bressman SB, DeLong MR, Fahn S, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863\u2013873","journal-title":"Mov Disord"},{"key":"1656_CR3","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1212\/01.wnl.0000267430.95106.ff","volume":"69","author":"RL Alterman","year":"2007","unstructured":"Alterman RL, Miravite J, Weisz D, Shils JL, Bressman SB, Tagliati RL (2007) Sixy Hertz pallidal deep brain stimulation for primary torsion dystonia. Neurology 69:681\u2013688","journal-title":"Neurology"},{"key":"1656_CR4","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1101\/gr.183483.114","volume":"25","author":"LM Amendola","year":"2015","unstructured":"Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O\u2019Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP (2015) Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res 25:305\u2013315","journal-title":"Genome Res"},{"key":"1656_CR5","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1136\/jnnp.2010.207993","volume":"81","author":"C Andrews","year":"2010","unstructured":"Andrews C, Aviles-Olmos I, Hariz M, Foltynie T (2010) Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry 81:1383\u20131389","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR6","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1002\/mds.25535","volume":"28","author":"A Angeli","year":"2013","unstructured":"Angeli A, Mencacci NE, Duran R, Aviles-Olmos I, Kefalopoulou Z, Candelario J, Rusbridge S, Foley J, Pradhan P, Jahanshahi M, Zrinzo L, Hariz M, Wood NW, Hardy J, Limousin P, Foltynie T (2013) Genotype and phenotype in Parkinson\u2019s disease: lessons in heterogeneity from deep brain stimulation. Mov Disord 28:1370\u20131375","journal-title":"Mov Disord"},{"issue":"Suppl 1","key":"1656_CR7","doi-asserted-by":"publisher","first-page":"S113","DOI":"10.1016\/S1353-8020(13)70028-2","volume":"20","author":"CC Aquino","year":"2014","unstructured":"Aquino CC, Lang AE (2014) Tardive dyskinesia syndromes: current concepts. Parkinsonism Relat Disord 20(Suppl 1):S113\u2013S117","journal-title":"Parkinsonism Relat Disord"},{"key":"1656_CR8","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1111\/ene.12650","volume":"22","author":"B Balint","year":"2015","unstructured":"Balint B, Bhatia KP (2015) Isolated and combined dystonia syndromes\u2014an update on new genes and their phenotypes. Eur J Neurol 22:610\u2013617","journal-title":"Eur J Neurol"},{"key":"1656_CR9","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1002\/humu.22364","volume":"34","author":"LJ Bean","year":"2013","unstructured":"Bean LJ, Tinker SW, da Silva C, Hegde MR (2013) Free the data: one laboratory\u2019s approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat 34:1183\u20131188","journal-title":"Hum Mutat"},{"key":"1656_CR10","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1159\/000367628","volume":"43","author":"E Beghi","year":"2014","unstructured":"Beghi E, Regio V, Papantonio A, Bentivoglio AR, Fasano A, Fogli D, Giordano L, Piolti R, Rinaldi G, Simone P, Specchio LM, Tonali P, Torelli P, Zarrelli M, Messina P (2014) Reliability of clinical diagnosis of dystonia. Neuroepidemiology 43:213\u2013219","journal-title":"Neuroepidemiology"},{"key":"1656_CR11","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1159\/000195718","volume":"87","author":"BD Berman","year":"2009","unstructured":"Berman BD, Starr PA, Marks WJ Jr, Ostrem JL (2009) Induction of bradykinesia with pallidal deep brain stimulation in patients with cranial-cervical dystonia. Stereotact Funct Neurosurg 87:37\u201344","journal-title":"Stereotact Funct Neurosurg"},{"key":"1656_CR12","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.jocn.2015.05.054","volume":"25","author":"KL Bertram","year":"2015","unstructured":"Bertram KL, Williams DR (2015) Delays to the diagnosis of cervical dystonia. J Clin Neurosci 25:62\u201364","journal-title":"J Clin Neurosci"},{"key":"1656_CR13","doi-asserted-by":"publisher","first-page":"2418","DOI":"10.1056\/NEJMra1312543","volume":"370","author":"LG Biesecker","year":"2014","unstructured":"Biesecker LG, Green RC (2014) Diagnostic clinical genome and exome sequencing. N Engl J Med 370:2418\u20132425","journal-title":"N Engl J Med"},{"key":"1656_CR14","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.cct.2005.11.005","volume":"27","author":"KA Bramstedt","year":"2006","unstructured":"Bramstedt KA, Ford PJ (2006) Protecting human subjects in neurosurgical trials: the challenge of psychogenic dystonia. Contemp Clin Trials 27:161\u2013164","journal-title":"Contemp Clin Trials"},{"issue":"Suppl 1","key":"1656_CR15","doi-asserted-by":"publisher","first-page":"S5","DOI":"10.1002\/mds.23482","volume":"26","author":"H Bronte-Stewart","year":"2011","unstructured":"Bronte-Stewart H, Taira T, Valldeoriola F, Merello M, Marks WJ Jr, Albanese A, Bressman S, Moro E (2011) Inclusion and exclusion criteria for DBS in dystonia. Mov Disord 26(Suppl 1):S5\u2013S16","journal-title":"Mov Disord"},{"key":"1656_CR16","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1212\/WNL.0000000000001312","volume":"84","author":"N Bruggemann","year":"2015","unstructured":"Bruggemann N, Kuhn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wachter T, Deuschl G, Kruger R, Kupsch A, Munchau A, Lohmann K, Volkmann J, Klein C (2015) Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology 84:895\u2013903","journal-title":"Neurology"},{"key":"1656_CR17","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/978-3-7091-1482-7_11","volume":"117","author":"C Buhmann","year":"2013","unstructured":"Buhmann C, Moll CK, Zittel S, Munchau A, Engel AK, Hamel W (2013) Deep brain stimulation of the ventrolateral thalamic base and posterior subthalamic area in dystonic head tremor. Acta Neurochir Suppl 117:67\u201372","journal-title":"Acta Neurochir Suppl"},{"key":"1656_CR18","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1016\/j.neuroscience.2008.12.041","volume":"164","author":"M Carbon","year":"2009","unstructured":"Carbon M, Eidelberg D (2009) Abnormal structure-function relationships in hereditary dystonia. Neuroscience 164:220\u2013229","journal-title":"Neuroscience"},{"key":"1656_CR19","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3389\/fneur.2012.00151","volume":"3","author":"F Cardoso","year":"2012","unstructured":"Cardoso F (2012) Difficult diagnoses in hyperkinetic disorders\u2014a focused review. Front Neurol 3:151","journal-title":"Front Neurol"},{"key":"1656_CR20","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1016\/j.ajhg.2012.10.024","volume":"91","author":"G Charlesworth","year":"2012","unstructured":"Charlesworth G, Plagnol V, Holmstrom KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 91:1041\u20131050","journal-title":"Am J Hum Genet"},{"key":"1656_CR21","doi-asserted-by":"publisher","first-page":"1148","DOI":"10.1212\/WNL.0b013e3182a55fa2","volume":"81","author":"G Charlesworth","year":"2013","unstructured":"Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP (2013) Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 81:1148\u20131151","journal-title":"Neurology"},{"key":"1656_CR22","doi-asserted-by":"publisher","first-page":"189","DOI":"10.3171\/jns.2004.101.2.0189","volume":"101","author":"P Coubes","year":"2004","unstructured":"Coubes P, Cif L, El Fertit H, Hemm S, Vayssiere N, Serrat S, Picot MC, Tuffery S, Claustres M, Echenne B, Frerebeau P (2004) Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg 101:189\u2013194","journal-title":"J Neurosurg"},{"key":"1656_CR23","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1016\/j.jvoice.2013.10.022","volume":"29","author":"FXJ Creighton","year":"2015","unstructured":"Creighton FXJ, Hapner ER, Klein AM, Rosen A, Jinnah HA, Johns MM (2015) Diagnostic delays in spasmodic dysphonia: a call for clinician education. J Voice 29:592\u2013594","journal-title":"J Voice"},{"key":"1656_CR24","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/mds.26600","volume":"31","author":"A Domingo","year":"2016","unstructured":"Domingo A, Erro R, Lohmann K (2016) Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord 31:471\u2013477","journal-title":"Mov Disord"},{"key":"1656_CR25","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1016\/j.ajhg.2013.08.006","volume":"93","author":"MO Dorschner","year":"2013","unstructured":"Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP (2013) Actionable, pathogenic incidental findings in 1,000 participants\u2019 exomes. Am J Hum Genet 93:631\u2013640","journal-title":"Am J Hum Genet"},{"key":"1656_CR26","first-page":"48","volume":"11","author":"RJ Elble","year":"2013","unstructured":"Elble RJ (2013) Defining dystonic tremor. Curr Neuropharmacol 11:48\u201352","journal-title":"Curr Neuropharmacol"},{"key":"1656_CR27","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1136\/jnnp-2013-305532","volume":"85","author":"A Fasano","year":"2014","unstructured":"Fasano A, Bove F, Lang AE (2014) The treatment of dystonic tremor: a systematic review. J Neurol Neurosurg Psychiatry 85:759\u2013769","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR28","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1212\/CPJ.0000000000000239","volume":"6","author":"BL Fogel","year":"2016","unstructured":"Fogel BL, Satya-Murti S, Cohen BH (2016) Clinical exome sequencing in neurologic disease. Neurol Clin Pract 6:164\u2013176","journal-title":"Neurol Clin Pract"},{"key":"1656_CR29","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1001\/jamaneurol.2015.51","volume":"72","author":"MD Fox","year":"2015","unstructured":"Fox MD, Alterman RL (2015) Brain stimulation for torsion dystonia. JAMA Neurol 72:713\u2013719","journal-title":"JAMA Neurol"},{"key":"1656_CR30","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1002\/ana.22685","volume":"71","author":"J Friedman","year":"2012","unstructured":"Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thony B, Blau N (2012) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71:520\u2013530","journal-title":"Ann Neurol"},{"key":"1656_CR31","doi-asserted-by":"publisher","first-page":"977","DOI":"10.3171\/JNS-07\/11\/0977","volume":"107","author":"C Fukaya","year":"2007","unstructured":"Fukaya C, Katayama Y, Kano T, Nagaoka T, Kobayashi K, Oshima H, Yamamoto T (2007) Thalamic deep brain stimulation for writer\u2019s cramp. J Neurosurg 107:977\u2013982","journal-title":"J Neurosurg"},{"key":"1656_CR32","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1002\/mds.25549","volume":"28","author":"VS Fung","year":"2013","unstructured":"Fung VS, Jinnah HA, Bhatia K, Vidailhet M (2013) Assessment of the patient with dystonia: an update on dystonia syndromes. Mov Disord 28:889\u2013898","journal-title":"Mov Disord"},{"key":"1656_CR33","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/gim.2013.73","volume":"15","author":"RC Green","year":"2013","unstructured":"Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O\u2019Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565\u2013574","journal-title":"Genet Med"},{"key":"1656_CR34","doi-asserted-by":"publisher","first-page":"2420","DOI":"10.1002\/mds.23285","volume":"25","author":"JL Groen","year":"2010","unstructured":"Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, van Hilten JJ, Schuurman PR, Speelman JD, Koelman JH, de Bie RM, Baas F, Tijssen MA (2010) DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 25:2420\u20132427","journal-title":"Mov Disord"},{"key":"1656_CR35","doi-asserted-by":"publisher","first-page":"R47","DOI":"10.1093\/hmg\/ddu203","volume":"23","author":"R Guerreiro","year":"2014","unstructured":"Guerreiro R, Bras J, Hardy J, Singleton A (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet 23:R47\u2013R53","journal-title":"Hum Mol Genet"},{"key":"1656_CR36","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/nyas.12372","volume":"1315","author":"P Hedera","year":"2014","unstructured":"Hedera P (2014) Treatment of Wilson\u2019s disease motor complications with deep brain stimulation. Ann N Y Acad Sci 1315:16\u201323","journal-title":"Ann N Y Acad Sci"},{"key":"1656_CR37","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.parkreldis.2013.03.010","volume":"19","author":"P Hedera","year":"2013","unstructured":"Hedera P, Phibbs FT, Dolhun R, Charles PD, Konrad PE, Neimat JS, Davis TL (2013) Surgical targets for dystonic tremor: considerations between the globus pallidus and ventral intermediate thalamic nucleus. Parkinsonism Relat Disord 19:684\u2013686","journal-title":"Parkinsonism Relat Disord"},{"key":"1656_CR38","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1111\/j.1525-1403.2006.00067.x","volume":"9","author":"KL Holloway","year":"2006","unstructured":"Holloway KL, Baron MS, Brown R, Cifu DX, Carne W, Ramakrishnan V (2006) Deep brain stimulation for dystonia: a meta-analysis. Neuromodulation 9:253\u2013261","journal-title":"Neuromodulation"},{"key":"1656_CR39","doi-asserted-by":"publisher","first-page":"1895","DOI":"10.1093\/brain\/awn120","volume":"131","author":"IU Isaias","year":"2008","unstructured":"Isaias IU, Alterman RL, Tagliati M (2008) Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration. Brain 131:1895\u20131902","journal-title":"Brain"},{"key":"1656_CR40","doi-asserted-by":"publisher","first-page":"1469","DOI":"10.1007\/s00415-011-5961-9","volume":"258","author":"IU Isaias","year":"2011","unstructured":"Isaias IU, Volkmann J, Kupsch A, Burgunder JM, Ostrem JL, Alterman RL, Mehdorn HM, Schonecker T, Krauss JK, Starr P, Reese R, Kuhn AA, Schupbach WM, Tagliati M (2011) Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration. J Neurol 258:1469\u20131476","journal-title":"J Neurol"},{"key":"1656_CR41","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1016\/j.pediatrneurol.2004.03.017","volume":"31","author":"MMS Jan","year":"2004","unstructured":"Jan MMS (2004) Misdiagnoses in children with dopa-responsive dystonia. Pediatr Neurol 31:298\u2013303","journal-title":"Pediatr Neurol"},{"key":"1656_CR42","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1002\/mdc3.12100","volume":"1","author":"HA Jinnah","year":"2014","unstructured":"Jinnah HA, Albanese A (2014) The new classification for the dystonias: why was it needed and how was it accomplished? Mov Disord Clin Pract 1:280\u2013284","journal-title":"Mov Disord Clin Pract"},{"key":"1656_CR43","first-page":"77","volume-title":"Neurologic clinics","author":"HA Jinnah","year":"2015","unstructured":"Jinnah HA, Factor S (2015) Diagnosis and treatment of dystonia. In: Jankovic J (ed) Neurologic clinics, vol 33. Elsevier, Amsterdam, pp 77\u2013100"},{"key":"1656_CR44","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1017\/S0317167100012270","volume":"38","author":"M Jog","year":"2011","unstructured":"Jog M, Chouinard S, Hobson D, Grimes D, Chen R, Bhogal M, Simonyi S (2011) Causes for treatment delays in dystonia and hemifacial spasm: a Canadian survey. Can J Neurol Sci 38:704\u2013711","journal-title":"Can J Neurol Sci"},{"key":"1656_CR45","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1038\/gim.2014.196","volume":"17","author":"J Jurgens","year":"2015","unstructured":"Jurgens J, Ling H, Hetrick K, Pugh E, Schiettecatte F, Doheny K, Hamosh A, Avramopoulos D, Valle D, Sobreira N (2015) Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet Med 17:782\u2013788","journal-title":"Genet Med"},{"key":"1656_CR46","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1056\/NEJMoa063618","volume":"355","author":"A Kupsch","year":"2006","unstructured":"Kupsch A, Benecke R, Muller J, Trottenberg T, Schneider GH, Poewe W, Eisner W, Wolters A, Muller JU, Deuschl G, Pinsker MO, Skogseid IM, Roeste GK, Vollmer-Haase J, Brentrup A, Krause M, Tronnier V, Schnitzler A, Voges J, Nikkhah G, Vesper J, Naumann M, Volkmann J (2006) Pallidal deep-brain stimulation in primary generalized or segmental dystonia. N Engl J Med 355:1978\u20131990","journal-title":"N Engl J Med"},{"key":"1656_CR47","doi-asserted-by":"publisher","first-page":"1619","DOI":"10.1002\/mds.23137","volume":"25","author":"S Lalli","year":"2010","unstructured":"Lalli S, Albanese A (2010) The diagnostic challenge of primary dystonia: evidence from misdiagnosis. Mov Disord 25:1619\u20131626","journal-title":"Mov Disord"},{"key":"1656_CR48","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/B978-0-12-394395-8.00002-5","volume":"79","author":"MS LeDoux","year":"2012","unstructured":"LeDoux MS (2012) The genetics of dystonias. Adv Genet 79:35\u201385","journal-title":"Adv Genet"},{"key":"1656_CR49","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1016\/j.parkreldis.2012.02.001","volume":"18","author":"MS LeDoux","year":"2012","unstructured":"LeDoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momcilovic D, Vemula SR, Zhao Y (2012) Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord 18:414\u2013425","journal-title":"Parkinsonism Relat Disord"},{"key":"1656_CR50","doi-asserted-by":"publisher","first-page":"e69","DOI":"10.1212\/NXG.0000000000000069","volume":"2","author":"MS LeDoux","year":"2016","unstructured":"LeDoux MS, Vemula SR, Xiao J, Thompson MM, Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic J, Barbano RL, Reich SG, Rodriguez RL, Berman BD, Chouinard S, Severt L, Agarwal P, Stover NP (2016) Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurol Genet 2:e69. doi: 10.1212\/NXG.0000000000000069","journal-title":"Neurol Genet"},{"key":"1656_CR51","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1136\/jnnp.74.3.348","volume":"74","author":"G Logroscino","year":"2003","unstructured":"Logroscino G, Livrea P, Anaclerio D, Aniello MS, Benedetto G, Cazzato G, Giampietro L, Manobianca G, Marra M, Martino D, Pannarale P, Pulimeno R, Santamato V, Defazio G (2003) Agreement among neurologists on the clinical diagnosis of dystonia at different body sites. J Neurol Neurosurg Psychiatry 74:348\u2013350","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR52","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1002\/mds.25536","volume":"28","author":"K Lohmann","year":"2013","unstructured":"Lohmann K, Klein C (2013) Genetics of dystonia: what\u2019s known? What\u2019s new? What\u2019s next? Mov Disord 28:899\u2013905","journal-title":"Mov Disord"},{"key":"1656_CR53","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1016\/j.jocn.2014.09.014","volume":"22","author":"A Macerollo","year":"2015","unstructured":"Macerollo A, Superbo M, Gigante AF, Livrea P, Defazio G (2015) Diagnostic delay in adult-onset dystonia: data from an Italian movement disorder center. J Clin Neurosci 22:608\u2013610","journal-title":"J Clin Neurosci"},{"key":"1656_CR54","doi-asserted-by":"publisher","first-page":"2192","DOI":"10.1002\/mds.21170","volume":"21","author":"A Machado","year":"2006","unstructured":"Machado A, Chien HF, Deguti MM, Cancado E, Azevedo RS, Scaff M, Barbosa ER (2006) Neurological manifestations in Wilson\u2019s disease: report of 119 cases. Mov Disord 21:2192\u20132196","journal-title":"Mov Disord"},{"key":"1656_CR55","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/j.ajog.2015.05.034","volume":"213","author":"AH MacLennan","year":"2015","unstructured":"MacLennan AH, Thompson SC, Gecz J (2015) Cerebral palsy: causes, pathways, and the role of genetic variants. Am J Obstet Gynecol 213:779\u2013788","journal-title":"Am J Obstet Gynecol"},{"key":"1656_CR56","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1056\/NEJMra0905980","volume":"363","author":"TA Manolio","year":"2010","unstructured":"Manolio TA (2010) Genomewide association studies and assessment of the risk of disease. N Engl J Med 363:166\u2013176","journal-title":"N Engl J Med"},{"key":"1656_CR57","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1038\/nrg3523","volume":"14","author":"TA Manolio","year":"2013","unstructured":"Manolio TA (2013) Bringing genome-wide association findings into clinical use. Nat Rev Genet 14:549\u2013558","journal-title":"Nat Rev Genet"},{"key":"1656_CR58","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1038\/nature08494","volume":"461","author":"TA Manolio","year":"2009","unstructured":"Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM (2009) Finding the missing heritability of complex diseases. Nature 461:747\u2013753","journal-title":"Nature"},{"key":"1656_CR59","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/gim.2012.157","volume":"15","author":"TA Manolio","year":"2013","unstructured":"Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O\u2019Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS (2013) Implementing genomic medicine in the clinic: the future is here. Genet Med 15:258\u2013267","journal-title":"Genet Med"},{"key":"1656_CR60","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/j.parkreldis.2008.01.012","volume":"14","author":"A McKeon","year":"2008","unstructured":"McKeon A, Matsumoto JY, Bower JH, Ahlskog JE (2008) The spectrum of disorders presenting as adult-onset focal lower extremity dystonia. Parkinsonism Relat Disord 14:613\u2013619","journal-title":"Parkinsonism Relat Disord"},{"key":"1656_CR61","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/mp.2014.189","volume":"20","author":"G McMichael","year":"2015","unstructured":"McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O\u2019Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH (2015) Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry 20:176\u2013182","journal-title":"Mol Psychiatry"},{"key":"1656_CR62","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1212\/WNL.0000000000000794","volume":"83","author":"A Meneret","year":"2014","unstructured":"Meneret A, Ahmar-Beaugendre Y, Rieunier G, Mahlaoui N, Gaymard B, Apartis E, Tranchant C, Rivaud-Pechoux S, Degos B, Benyahia B, Suarez F, Maisonobe T, Koenig M, Durr A, Stern MH, Dubois d\u2019Enghien C, Fischer A, Vidailhet M, Stoppa-Lyonnet D, Grabli D, Anheim M (2014) The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. Neurology 83:1087\u20131095","journal-title":"Neurology"},{"key":"1656_CR63","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.nec.2013.08.014","volume":"25","author":"KA Mills","year":"2014","unstructured":"Mills KA, Starr PA, Ostrem JL (2014) Neuromodulation for dystonia: target and patient selection. Neurosurg Clin N Am 25:59\u201375","journal-title":"Neurosurg Clin N Am"},{"key":"1656_CR64","first-page":"39","volume":"28","author":"S Miri","year":"2014","unstructured":"Miri S, Shahidi GA, Parvaresh M, Rohani M (2014) Pallidal deep brain stimulation for the treatment of DYT6 dystonia: a case report and review of literature. Med J Islam Repub Iran 28:39","journal-title":"Med J Islam Repub Iran"},{"key":"1656_CR65","first-page":"71","volume":"18","author":"N Moghimi","year":"2013","unstructured":"Moghimi N, Jabbari B, Szekely AM (2013) Primary dystonias and genetic disorders with dystonia as clinical feature of the disease. Eur J Paediatr Neurol 18:71\u2013105","journal-title":"Eur J Paediatr Neurol"},{"key":"1656_CR66","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1159\/000289354","volume":"88","author":"T Morishita","year":"2010","unstructured":"Morishita T, Foote KD, Haq IU, Zeilman P, Jacobson CE, Okun MS (2010) Should we consider Vim thalamic deep brain stimulation for select cases of severe refractory dystonic tremor. Stereotact Funct Neurosurg 88:98\u2013104","journal-title":"Stereotact Funct Neurosurg"},{"key":"1656_CR67","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1159\/000365577","volume":"92","author":"H Mure","year":"2014","unstructured":"Mure H, Morigaki R, Koizumi H, Okita S, Kawarai T, Miyamoto R, Kaji R, Nagahiro S, Goto S (2014) Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia. Stereotact Funct Neurosurg 92:393\u2013396","journal-title":"Stereotact Funct Neurosurg"},{"key":"1656_CR68","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1002\/humu.22450","volume":"34","author":"K Neveling","year":"2013","unstructured":"Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR (2013) A post hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 34:1721\u20131726","journal-title":"Hum Mutat"},{"key":"1656_CR69","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.nbd.2011.01.026","volume":"42","author":"VK Neychev","year":"2011","unstructured":"Neychev VK, Gross R, Lehericy S, Hess EJ, Jinnah HA (2011) The functional neuroanatomy of dystonia. Neurobiol Dis 42:185\u2013201","journal-title":"Neurobiol Dis"},{"key":"1656_CR70","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1001\/archneur.62.8.noc40425","volume":"62","author":"MS Okun","year":"2005","unstructured":"Okun MS, Tagliati M, Pourfar M, Fernandez HH, Rodriguez RL, Alterman RL, Foote KD (2005) Management of referred deep brain stimulation failures: a retrospective analysis from 2 movement disorders centers. Arch Neurol 62:1250\u20131255","journal-title":"Arch Neurol"},{"key":"1656_CR71","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1002\/mds.26521","volume":"31","author":"S Olgiati","year":"2016","unstructured":"Olgiati S, Quadri M, Bonifati V (2016) Genetics of movement disorders in the next-generation sequencing era. Mov Disord 31:458\u2013470","journal-title":"Mov Disord"},{"key":"1656_CR72","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1136\/jnnp-2011-300979","volume":"83","author":"F Panov","year":"2012","unstructured":"Panov F, Tagliati M, Ozelius LJ, Fuchs T, Gologorsky Y, Cheung T, Avshalumov M, Bressman SB, Saunders-Pullman R, Weisz D, Alterman RL (2012) Pallidal deep brain stimulation for DYT6 dystonia. J Neurol Neurosurg Psychiatry 83:182\u2013187","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Suppl 1","key":"1656_CR73","first-page":"S438","volume":"28","author":"KAM Pauls","year":"2013","unstructured":"Pauls KAM, Krauss JK, Kamper CE, Schrader C, Sudemeyer M, Allert N (2013) Causes of therapeutic failure of pallidal deep brain stimulation in primary dystonia. Mov Disord 28(Suppl 1):S438","journal-title":"Mov Disord"},{"key":"1656_CR74","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1002\/mds.25884","volume":"29","author":"KA Pauls","year":"2014","unstructured":"Pauls KA, Hammesfahr S, Moro E, Moore AP, Binder E, El Majdoub F, Fink GR, Sturm V, Krauss JK, Maarouf M, Timmermann L (2014) Deep brain stimulation in the ventrolateral thalamus\/subthalamic area in dystonia with head tremor. Mov Disord 29:953\u2013959","journal-title":"Mov Disord"},{"key":"1656_CR75","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.1002\/mds.25340","volume":"28","author":"P Pita Lobo","year":"2013","unstructured":"Pita Lobo P, Quattrocchi G, Jutras MF, Sangla S, Apartis E, Vidailhet M, Grabli D (2013) Primary writing tremor and writer\u2019s cramp: two faces of a same coin? Mov Disord 28:1306\u20131307","journal-title":"Mov Disord"},{"key":"1656_CR76","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.neuroscience.2013.11.062","volume":"260","author":"CN Prudente","year":"2014","unstructured":"Prudente CN, Hess EJ, Jinnah HA (2014) Dystonia as a network disorder: what is the role of the cerebellum? Neuroscience 260:23\u201335","journal-title":"Neuroscience"},{"key":"1656_CR77","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1002\/mds.25532","volume":"28","author":"A Quartarone","year":"2013","unstructured":"Quartarone A, Hallett M (2013) Emerging concepts in the physiological basis of dystonia. Mov Disord 28:958\u2013967","journal-title":"Mov Disord"},{"issue":"6","key":"1656_CR78","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1002\/acn3.206","volume":"2","author":"VF Ramos","year":"2015","unstructured":"Ramos VF, Pillai AS, Lungu C, Ostrem J, Starr P, Hallett M (2015) Intraoperative neurophysiology in deep brain surgery for psychogenic dystonia. Ann Clin Transl Neurol 2(6):707\u2013710","journal-title":"Ann Clin Transl Neurol"},{"key":"1656_CR79","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/nrg3463","volume":"14","author":"HL Rehm","year":"2013","unstructured":"Rehm HL (2013) Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 14:295\u2013300","journal-title":"Nat Rev Genet"},{"key":"1656_CR80","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1002\/humu.22306","volume":"34","author":"ER Riggs","year":"2013","unstructured":"Riggs ER, Wain KE, Riethmaier D, Savage M, Smith-Packard B, Kaminsky EB, Rehm HL, Martin CL, Ledbetter DH, Faucett WA (2013) Towards a universal clinical genomics database: the 2012 international standards for cytogenomic arrays consortium meeting. Hum Mutat 34:915\u2013919","journal-title":"Hum Mutat"},{"key":"1656_CR81","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1002\/mdc3.12042","volume":"1","author":"M Rossi","year":"2014","unstructured":"Rossi M, Perez-Lloret S, Cerquetti D, Merello M (2014) Movement disorders in autosomal dominant cerebellar ataxias: a systematic review. Mov Disord Clin Pract 1:154\u2013160. doi: 10.1002\/mdc3.12042","journal-title":"Mov Disord Clin Pract"},{"key":"1656_CR82","doi-asserted-by":"publisher","first-page":"e2","DOI":"10.1136\/jnnp-2013-306573.159","volume":"84","author":"A Sadnicka","year":"2013","unstructured":"Sadnicka A, Teo J, Kojovic M, Kassavetis P, Saifee T, Isabel P, Schwingenschuh P, Rothwell J, Bhatia K, Edwards M (2013) Genotype specific cerebellar involvement in dyt1 and dyt6 dystonia? J Neurol Neurosurg Psychiatry 84:e2","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR83","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/B978-0-444-53497-2.00015-2","volume":"116","author":"C Saleh","year":"2013","unstructured":"Saleh C, Gonzalez V, Coubes P (2013) Role of deep brain stimulation in the treatment of secondary dystonia-dyskinesia syndromes. Handb Clin Neurol 116:189\u2013208","journal-title":"Handb Clin Neurol"},{"key":"1656_CR84","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1212\/WNL.0b013e3182494d51","volume":"78","author":"R Saunders-Pullman","year":"2012","unstructured":"Saunders-Pullman R, Raymond D, Stoessl AJ, Hobson D, Nakamura T, Pullman S, Lefton D, Okun MS, Uitti R, Sachdev R, Stanley K, San Luciano M, Hagenah J, Gatti R, Ozelius LJ, Bressman SB (2012) Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 78:649\u2013657","journal-title":"Neurology"},{"key":"1656_CR85","doi-asserted-by":"publisher","first-page":"1789","DOI":"10.1002\/mds.23837","volume":"26","author":"S Schiebler","year":"2011","unstructured":"Schiebler S, Schmidt A, Zittel S, Baumer T, Gerloff C, Klein C, Munchau A (2011) Arm tremor in cervical dystonia: is it a manifestation of dystonia or essential tremor? Mov Disord 26:1789\u20131792","journal-title":"Mov Disord"},{"key":"1656_CR86","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1002\/mds.20794","volume":"21","author":"SA Schneider","year":"2006","unstructured":"Schneider SA, Edwards MJ, Grill SE, Goldstein S, Kanchana S, Quinn NP, Bhatia KP, Hallett M, Reich SG (2006) Adult-onset primary lower limb dystonia. Mov Disord 21:767\u2013771","journal-title":"Mov Disord"},{"key":"1656_CR87","doi-asserted-by":"publisher","first-page":"2210","DOI":"10.1002\/mds.21685","volume":"22","author":"SA Schneider","year":"2007","unstructured":"Schneider SA, Edwards MJ, Mir P, Cordivari C, Hooker J, Dickson J, Quinn N, Bhatia KP (2007) Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs). Mov Disord 22:2210\u20132215","journal-title":"Mov Disord"},{"key":"1656_CR88","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.clineuro.2015.05.017","volume":"135","author":"P Sokal","year":"2015","unstructured":"Sokal P, Rudas M, Harat M, Szylberg L, Zielinski P (2015) Deep anterior cerebellar stimulation reduces symptoms of secondary dystonia in patients with cerebral palsy treated due to spasticity. Clin Neurol Neurosurg 135:62\u201368","journal-title":"Clin Neurol Neurosurg"},{"issue":"Suppl 1","key":"1656_CR89","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1111\/j.1468-1331.2010.03060.x","volume":"17","author":"JD Speelman","year":"2010","unstructured":"Speelman JD, Contarino MF, Schuurman PR, Tijssen MA, de Bie RM (2010) Deep brain stimulation for dystonia: patient selection and outcomes. Eur J Neurol 17(Suppl 1):102\u2013106","journal-title":"Eur J Neurol"},{"key":"1656_CR90","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1002\/mds.25802","volume":"29","author":"M Stamelou","year":"2014","unstructured":"Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kagi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP (2014) The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord 29:928\u2013934","journal-title":"Mov Disord"},{"key":"1656_CR91","doi-asserted-by":"publisher","first-page":"488","DOI":"10.3171\/jns.2006.104.4.488","volume":"104","author":"PA Starr","year":"2006","unstructured":"Starr PA, Turner RS, Rau G, Lindsey N, Heath S, Volz M, Ostrem JL, Marks WJJ (2006) Microelectrode-guided implantation of deep brain stimulators into the globus pallidus internus for dystonia: techniques, electrode locations, and outcomes. J Neurosurg 104:488\u2013501","journal-title":"J Neurosurg"},{"key":"1656_CR92","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00439-013-1358-4","volume":"133","author":"PD Stenson","year":"2014","unstructured":"Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1\u20139","journal-title":"Hum Genet"},{"key":"1656_CR93","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1002\/mds.1118","volume":"16","author":"M Svetel","year":"2001","unstructured":"Svetel M, Kozic D, Stefanova E, Semnic R, Dragasevic N, Kostic VS (2001) Dystonia in Wilson\u2019s disease. Mov Disord 16:719\u2013723","journal-title":"Mov Disord"},{"issue":"Suppl 1","key":"1656_CR94","doi-asserted-by":"publisher","first-page":"S17","DOI":"10.1002\/mds.23481","volume":"26","author":"S Thobois","year":"2011","unstructured":"Thobois S, Taira T, Comella C, Moro E, Bressman S, Albanese A (2011) Pre-operative evaluations for DBS in dystonia. Mov Disord 26(Suppl 1):S17\u2013S22","journal-title":"Mov Disord"},{"key":"1656_CR95","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.jns.2013.08.028","volume":"335","author":"E Tiderington","year":"2013","unstructured":"Tiderington E, Goodman EM, Rosen AR, Hapner ER, Johns MM 3rd, Evatt ML, Freeman A, Factor S, Jinnah HA (2013) How long does it take to diagnose cervical dystonia? J Neurol Sci 335:72\u201374","journal-title":"J Neurol Sci"},{"key":"1656_CR96","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1136\/jnnp-2014-309106","volume":"86","author":"ME van Egmond","year":"2014","unstructured":"van Egmond ME, Kuiper A, Eggink H, Sinke RJ, Brouwer OF, Verschuuren-Bemelmans CC, Sival DA, Tijssen MA, de Koning TJ (2014) Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry 86:774\u2013781","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR97","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1212\/WNL.0b013e3181af33bd","volume":"73","author":"MM Verhagen","year":"2009","unstructured":"Verhagen MM, Abdo WF, Willemsen MA, Hogervorst FB, Smeets DF, Hiel JA, Brunt ER, van Rijn MA, Majoor Krakauer D, Oldenburg RA, Broeks A, Last JI, van\u2019t Veer LJ, Tijssen MA, Dubois AM, Kremer HP, Weemaes CM, Taylor AM, van Deuren M (2009) Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 73:430\u2013437","journal-title":"Neurology"},{"key":"1656_CR98","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1056\/NEJMoa042187","volume":"352","author":"M Vidailhet","year":"2005","unstructured":"Vidailhet M, Vercueil L, Houeto JL, Krystkowiak P, Benabid AL, Cornu P, Lagrange C, Tezanas du Montcel S, Dormont D, Grand S, Blond S, Detante O, Pillon B, Ardouin C, Agid Y, Destee A, Pollak P (2005) Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia. N Engl J Med 352:459\u2013467","journal-title":"N Engl J Med"},{"key":"1656_CR99","doi-asserted-by":"publisher","first-page":"1029","DOI":"10.1136\/jnnp-2011-301714","volume":"84","author":"M Vidailhet","year":"2012","unstructured":"Vidailhet M, Jutras MF, Grabli D, Roze E (2012) Deep brain stimulation for dystonia. J Neurol Neurosurg Psychiatry 84:1029\u20131040","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR100","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1016\/S1474-4422(14)70143-7","volume":"13","author":"J Volkmann","year":"2014","unstructured":"Volkmann J, Mueller J, Deuschl G, Kuhn AA, Krauss JK, Poewe W, Timmermann L, Falk D, Kupsch A, Kivi A, Schneider GH, Schnitzler A, Sudmeyer M, Voges J, Wolters A, Wittstock M, Muller JU, Hering S, Eisner W, Vesper J, Prokop T, Pinsker M, Schrader C, Kloss M, Kiening K, Boetzel K, Mehrkens J, Skogseid IM, Ramm-Pettersen J, Kemmler G, Bhatia KP, Vitek JL, Benecke R (2014) Pallidal neurostimulation in patients with medication-refractory cervical dystonia: a randomised, sham-controlled trial. Lancet Neurol 13:875\u2013884","journal-title":"Lancet Neurol"},{"key":"1656_CR101","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1136\/jnnp.55.8.692","volume":"55","author":"JM Walshe","year":"1992","unstructured":"Walshe JM, Yealland M (1992) Wilson\u2019s disease: the problem of delayed diagnosis. J Neurol Neurosurg Psychiatry 55:692\u2013696","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1656_CR102","doi-asserted-by":"publisher","first-page":"2405","DOI":"10.1002\/mds.23279","volume":"25","author":"S Zittel","year":"2010","unstructured":"Zittel S, Moll CK, Bruggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schonweiler R, Hagenah J, Klein C, Munchau A, Schneider SA (2010) Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 25:2405\u20132412","journal-title":"Mov Disord"}],"container-title":["Journal of Neural Transmission"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-016-1656-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00702-016-1656-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00702-016-1656-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T07:44:54Z","timestamp":1719042294000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00702-016-1656-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,3]]},"references-count":102,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["1656"],"URL":"https:\/\/doi.org\/10.1007\/s00702-016-1656-9","relation":{},"ISSN":["0300-9564","1435-1463"],"issn-type":[{"value":"0300-9564","type":"print"},{"value":"1435-1463","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2,3]]},"assertion":[{"value":"17 October 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 November 2016","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 February 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"RR is a Medtronic employee. HAJ prepared this review under a consultancy agreement with Medtronic. Some other co-authors (RA, EM, MV and JK) also have served as paid consultants or received research grants from Medtronic, as well as other companies that make or develop devices for deep brain stimulation. However, neither Medtronic nor any of the authors have any financial conflicts of interest relating to genetic testing.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}