References
- BalintBValenteEMKMT2B: a new twist in dystonia geneticsMov Disord20173252910.1002/mds.2695728218417
- SteevesTDDayLDykemanJJetteNPringsheimTThe prevalence of primary dystonia: a systematic review and meta-analysisMov Disord2012271789179610.1002/mds.2524423114997
- LohmannKKleinCUpdate on the genetics of dystoniaCurr Neurol Neurosci Rep2017172610.1007/s11910-017-0735-028283962
- AlbaneseABhatiaKBressmanSBDelongMRFahnSFungVSet alPhenomenology and classification of dystonia: a consensus updateMov Disord20132886387310.1002/mds.2547523649720
- StandaertDGUpdate on the pathology of dystoniaNeurobiol Dis20114214815110.1016/j.nbd.2011.01.01221220015
- BrookesAJThe essence of SNPsGene199923417718610.1016/S0378-1119(99)00219-X10395891
- KaraEXiromerisiouGSpanakiCBoziMKoutsisGPanasMet alAssessment of Parkinson’s disease risk loci in GreeceNeurobiol Aging201435442.e9e1610.1016/j.neurobiolaging.2013.07.011
- DardiotisEFountasKNDardiotiMXiromerisiouGKapsalakiETasiouAet alGenetic association studies in patients with traumatic brain injuryNeurosurg Focus201028E910.3171/2009.10.FOCUS09215
- MoraitouMHadjigeorgiouGMonopolisIDardiotisEBoziMVassilatisDet alβ-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's diseaseMol Genet Metab201110414915210.1016/j.ymgme.2011.06.01521745757
- AertsJWetzelsYCohenNAerssensJData mining of public SNP databases for the selection of intragenic SNPsHum Mutat20022016217310.1002/humu.1010712203988
- XiromerisiouGKyratziEDardiotisEBoziMTsimourtouVStamboulisEet alLack of association of the UCHL-1 gene with Parkinson’s disease in a Greek cohort: a haplotype-tagging approachMov Disord2011261955195710.1002/mds.2369421626562
- LeeEKGorospeMCoding region: the neglected post-transcriptional codeRNA Biol20118444810.4161/rna.8.1.1386321289484
- HoskinsonDCDubucAMMason-SuaresHThe current state of clinical interpretation of sequence variantsCurr Opin Genet Dev201742333910.1016/j.gde.2017.01.00128157586
- RichardsSAzizNBaleSBickDDasSGastier-FosterJet alStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med20151740542410.1038/gim.2015.3025741868
- SiokasVDardiotisETsironiEETsivgoulisGRikosDSokratousMet alThe role of TOR1A polymorphisms in dystonia: a systematic review and meta-analysisPloS one201712e016993410.1371/journal.pone.016993428081261
- BalintBBhatiaKPIsolated and combined dystonia syndromes – an update on new genes and their phenotypesEur J Neurol20152261061710.1111/ene.1265025643588
- CamargoCHCamargosSTCardosoFETeiveHAThe genetics of the dystonias—a review based on the new classification of the dystoniasArqu Neuro-psiquiatr201573350358
- CharlesworthGBhatiaKPWoodNWThe genetics of dystonia: new twists in an old taleBrain2013136(Pt 7)2017203710.1093/brain/awt13823775978
- XiaoJVemulaSRLeDouxMSRecent advances in the genetics of dystoniaCurr Neurol Neurosci Rep20141446210.1007/s11910-014-0462-824952478
- PetrucciSValenteEMGenetic issues in the diagnosis of dystoniasFront Neurol201343410.3389/fneur.2013.0003423596437
- LeDouxMSThe genetics of dystoniasAdv Genet201279358510.1016/B978-0-12-394395-8.00002-522989765
- PhukanJAlbaneseAGasserTWarnerTPrimary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesisLancet Neurol2011101074108510.1016/S1474-4422(11)70232-022030388
- FungVSJinnahHABhatiaKVidailhetMAssessment of patients with isolated or combined dystonia: an update on dystonia syndromesMov Disord20132888989810.1002/mds.2554923893445
- KleinCGenetics in dystoniaParkinsonism Relat Disord201420Suppl. 1S13714210.1016/S1353-8020(13)70033-624262166
- LohmannKKleinCGenetics of dystonia: what’s known? What’s new? What’s next?Mov Disord20132889990510.1002/mds.2553623893446
- MarrasCLangAvan de WarrenburgBPSueCMTabriziSJBertramLet alNomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task forceMov Disord20163143645710.1002/mds.2652727079681
- OzeliusLJHewettJWPageCEBressmanSBKramerPLShalishCet alThe early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNat Genet19971740810.1038/ng0997-409288096
- GoodchildREDauerWTMislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutationProc Natl Acad Sci USA200410184785210.1073/pnas.030437510114711988
- GrilletMDominguez GonzalezBSicartAPottlerMCascalhoABillionKet alTorsins are essential regulators of cellular lipid metabolismDev Cell20163823524710.1016/j.devcel.2016.06.01727453503
- CascalhoAJacquemynJGoodchildREMembrane defects and genetic redundancy: are we at a turning point for DYT1 dystonia?Mov Disord20173237138110.1002/mds.2688027911022
- HettichJRyanSDde SouzaONSaraiva Macedo TimmersLFTsaiSAtaiNAet alBiochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AHum Mutat2014351101111310.1002/humu.2260224930953
- SosaBADemirciogluFEChenJZIngramJPloeghHLSchwartzTUHow lamina-associated polypeptide 1 (LAP1) activates TorsineLife20143e0323910.7554/eLife.0323925149450
- DemirciogluFESosaBAIngramJPloeghHLSchwartzTUStructures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystoniaeLife2016510.7554/eLife.17983
- NaismithTVDalalSHansonPIInteraction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletionJ Biol Chem20092842786627866410.1074/jbc.M109.02016419651773
- WangLDuanCGaoYXuWDingJLiuVTet alLack of association between TOR1A and THAP1 mutations and sporadic adult-onset primary focal dystonia in a Chinese populationClin Neurol Neurosurg2016142263010.1016/j.clineuro.2016.01.01826803725
- ZhouQChenYYangJCaoBWeiQOuRet alAssociation analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystoniaNeurosci Lett201661218518810.1016/j.neulet.2015.12.03026704435
- TimerbaevaSLAbramychevaNYRebrovaOYIllarioshkinSNTOR1A polymorphisms in a Russian cohort with primary focal/segmental dystoniaInt J Neurosci201512567167710.3109/00207454.2014.96265325203860
- CaputoMIrisarriMPerandonesCAlechineEPelleneLARocaCUet alAnalysis of D216H polymorphism in Argentinean patients with primary dystoniaJ Neurogenet201327161810.3109/01677063.2012.76169723405979
- GroenJLRitzKTanckMWvan de WarrenburgBPvan HiltenJJAramidehMet alIs TOR1A a risk factor in adult-onset primary torsion dystonia?Mov Disord20132882783110.1002/mds.2538123460578
- NewmanJRSutherlandGTBoyleRSLimbergNBlumSO'SullivanJDet alCommon polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystoniasParkinsonism Relat Disord20121835135710.1016/j.parkreldis.2011.11.02422172551
- ChenYChenKBurgunderJMSongWHuangRZhaoBet alAssociation of rs1182 polymorphism of the DYT1 gene with primary dystonia in Chinese populationJ Neurolog Sci201232322823110.1016/j.jns.2012.09.025
- ChenYBurgunderJMSongWHuangRShangHFAssessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohortEur J Neurol20121992492610.1111/j.1468-1331.2011.03582.x22054283
- SharmaNFrancoRA
Jr KusterJKMitchellAAFuchsTSaunders-PullmanRet alGenetic evidence for an association of the TOR1A locus with segmental/focal dystoniaMov Disord2010252183218710.1002/mds.2322520669276 - BruggemannNKockNLohmannKKonigIRRakovicAHagenahJet alThe D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?Neurology2009721441144310.1212/WNL.0b013e3181a1861e19380705
- ChengFBWanXHZhangYMiaoJSunYSunYBet alTOR1A sequence variants and the association with early-onset primary dystonia in the Chinese Han populationParkinsonism Relat Disord20131939940110.1016/j.parkreldis.2012.08.01323107556
- KammCAsmusFMuellerJMayerPSharmaMMullerUJet alStrong genetic evidence for association of TOR1A/TOR1B with idiopathic dystoniaNeurology2006671857185910.1212/01.wnl.0000244423.63406.1717130424
- NaiyaTBiswasANeogiRDattaSMisraAKDasSKet alClinical characterization and evaluation of DYT1 gene in Indian primary dystonia patientsActa Neurolog Scand200611421021510.1111/j.1600-0404.2006.00663.x
- ClarimonJAsgeirssonHSingletonAJakobssonFHjaltasonHHardyJet alTorsin A haplotype predisposes to idiopathic dystoniaAnn Neurol20055776576710.1002/ana.2048515852391
- ClarimonJBrancatiFPeckhamEValenteEMDallapiccolaBAbruzzeseGet alAssessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasmMov Disord20072216216610.1002/mds.2118217133500
- SibbingDAsmusFKonigIRTezenas du MontcelSVidailhetMSanglaSet alCandidate gene studies in focal dystoniaNeurology2003611097110110.1212/01.WNL.0000090560.20641.AB14581671
- HagueSKlaffkeSClarimonJHemmerBSingletonAKupschAet alLack of association with TorsinA haplotype in German patients with sporadic dystoniaNeurology20066695195210.1212/01.wnl.0000203344.43342.1816567727
- LiJLongYHuangXChenYChenWLiuSet alDeletion variant rs35153737 in TOR1A is associated with isolated dystonia in a southwestern Chinese populationNeurosci Lett20176571410.1016/j.neulet.2017.07.04228756192
- LongYChenYQianYWangJLuoLHuangXet alA rare variant in TOR1A exon 5 associated with isolated dystonia in southwestern ChineseMov Disord2017321083108710.1002/mds.2701628432771
- KammCFischerHGaravagliaBKullmannSSharmaMSchraderCet alSusceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphismNeurology2008702261226210.1212/01.wnl.0000313838.05734.8a18519876
- RischNJBressmanSBSenthilGOzeliusLJIntragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystoniaAm J Hum Genet20078011889310.1086/51842717503336
- KojovicMPareesIKassavetisPPalomarFJMirPTeoJTet alSecondary and primary dystonia: pathophysiological differencesBrain2013136(Pt 7)2038204910.1093/brain/awt15023771342
- QuartaroneAMorganteFSant’angeloARizzoVBagnatoSTerranovaCet alAbnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystoniaJ Neurol Neurosurg Psychiatry20087998599010.1136/jnnp.2007.12163217634214
- MartinoDMugliaMAbbruzzeseGBerardelliAGirlandaPLiguoriMet alBrain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystoniaEur J Neurol20091694995210.1111/j.1468-1331.2009.02633.x19473353
- HempsteadBLBrain-derived neurotrophic factor: three ligands, many actionsTrans Am Clin Climatol Assoc201512691926330656
- NotarasMHillRvan den BuuseMThe BDNF gene Val66Met polymorphism as a modifier of psychiatric disorder susceptibility: progress and controversyMol Psychiatry20152091693010.1038/mp.2015.2725824305
- AnastasiaAHempsteadBLBDNF function in health and disease (Poster)Nat Rev Neurosci201415doi: https://www.nature.com/nrn/posters/bdnf/index.html
- CheeranBTalelliPMoriFKochGSuppaAEdwardsMet alA common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMSJ Physiol20085865717572510.1113/jphysiol.2008.15990518845611
- KleimJAChanSPringleESchallertKProcaccioVJimenezRet alBDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortexNat Neurosci2006973573710.1038/nn169916680163
- ChenJLiangXLiBJiangXXuZGender-related association of brain-derived neurotrophic factor gene 196A/G polymorphism with Alzheimer’s disease—a meta-analysis including 6854 cases and 6868 controlsInt J Neurosci201412472473310.3109/00207454.2013.86959424279351
- ChenKWangNZhangJHongXXuHZhaoXet alIs the Val66Met polymorphism of the brain-derived neurotrophic factor gene associated with panic disorder? A meta-analysisAsia-Pacific Psychiatry2017910.1111/appy.12228
- ZintzarasEBrain-derived neurotrophic factor gene polymorphisms and schizophrenia: a meta-analysisPsychiatric Genet200717697510.1097/YPG.0b013e32801119da
- ZintzarasEHadjigeorgiouGMThe role of G196A polymorphism in the brain-derived neurotrophic factor gene in the cause of Parkinson’s disease: a meta-analysisJ Hum Genet20055056056610.1007/s10038-005-0295-z16172806
- LiMChangHXiaoXBDNF Val66Met polymorphism and bipolar disorder in European populations: a risk association in case-control, family-based and GWAS studiesNeurosci Biobehav Rev20166821823310.1016/j.neubiorev.2016.05.03127236043
- XiromerisiouGDardiotisETsimourtouVKountraPMPaterakisKNKapsalakiEZet alGenetic basis of Parkinson diseaseNeurosurg Focus201028E710.3171/2009.10.FOCUS09220
- ChenYSongWYangJChenKHuangRZhaoBet alAssociation of the Val66Met polymorphism of the BDNF gene with primary cranial-cervical dystonia patients from South-west ChinaParkinsonism Relat Disord2013191043104510.1016/j.parkreldis.2013.06.00423816543
- CramerSCSampatAHaske-PalominoMNguyenSProcaccioVHermanowiczNIncreased prevalence of val(66)met BDNF genotype among subjects with cervical dystoniaNeurosci Lett2010468424510.1016/j.neulet.2009.10.05919857550
- GroenJLRitzKVelseboerDCAramidehMvan HiltenJJBoonAJet alAssociation of BDNF Met66Met polymorphism with arm tremor in cervical dystoniaMov Disord20122779679710.1002/mds.2492222290778
- MaLChenYWangLYangYChengFTianYet alBrain-derived neurotrophic factor Val66Met polymorphism is not associated with primary dystonia in a Chinese populationNeurosci Lett201353310010310.1016/j.neulet.2012.11.03723201631
- SvetelMVDjuricGNovakovicIDobricicVStefanovaEKresojevicNet alA common polymorphism in the brain-derived neurotrophic factor gene in patients with adult-onset primary focal and segmental dystoniaActa Neurolog Belg201311324324510.1007/s13760-013-0183-9
- Gomez-GarrePHuertas-FernandezICaceres-RedondoMTAlonso-CanovasABernal-BernalIBlanco-OlleroAet alBDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysisMov Disord2014291083108610.1002/mds.2593824925604
- SakoWMurakamiNIzumiYKajiRVal66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystoniaJ Clin Neurosci20152257557710.1016/j.jocn.2014.08.01425523127
- LashTLThe harm done to reproducibility by the culture of null hypothesis significance testingAm J Epidemiol201718662763510.1093/aje/kwx26128938715
- IkegameTBundoMMurataYKasaiKKatoTIwamotoKDNA methylation of the BDNF gene and its relevance to psychiatric disordersJ Hum Genet20135843443810.1038/jhg.2013.6523739121
- TerraccianoAPirasMGLobinaMMulasAMeirellesOSutinARet alGenetics of serum BDNF: meta-analysis of the Val66Met and genome-wide association studyWorld J Biolog Psychiatry20131458358910.3109/15622975.2011.616533
- NagaharaAHTuszynskiMHPotential therapeutic uses of BDNF in neurological and psychiatric disordersNat Rev Drug Discov20111020921910.1038/nrd336621358740
- LongoFMMassaSMSmall-molecule modulation of neurotrophin receptors: a strategy for the treatment of neurological diseaseNat Rev Drug Discov20131250752510.1038/nrd402423977697
- DengPAndersonJDYuASAnnettGFinkKDNoltaJAEngineered BDNF producing cells as a potential treatment for neurologic diseaseExpert Opin Biol Ther2016161025103310.1080/14712598.2016.118364127159050
- MahleyRWRallSC
Jr Apolipoprotein E: far more than a lipid transport proteinAnnu Rev Genomics Hum Genet2000150753710.1146/annurev.genom.1.1.50711701639 - LiuCCLiuCCKanekiyoTXuHBuGApolipoprotein E and Alzheimer disease: risk, mechanisms and therapyNat Rev Neurol2013910611810.1038/nrneurol.2012.26323296339
- MatsumotoSNishimuraMSakamotoTAsanumaKIzumiYShibasakiHet alModulation of the onset age in primary dystonia by APOE genotypeNeurology2003602003200510.1212/01.WNL.0000068161.38412.1F12821754
- XiromerisiouGDardiotisETsironiEEHadjigeorgiouGRalliSKaraEet alTHAP1 mutations in a Greek primary blepharospasm seriesParkinsonism Relat Disord20131940440510.1016/j.parkreldis.2012.08.01523036512
- XiromerisiouGHouldenHScarmeasNStamelouMKaraEHardyJet alTHAP1 mutations and dystonia phenotypes: genotype phenotype correlationsMov Disord2012271290129410.1002/mds.2514622903657
- BlanchardAEaVRoubertieAMartinMCoquartCClaustresMet alDYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 geneHum Mutat2011321213122410.1002/humu.2156421793105
- GavariniSCayrolCFuchsTLyonsNEhrlichMEGirardJPet alDirect interaction between causative genes of DYT1 and DYT6 primary dystoniaAnn Neurol20106854955310.1002/ana.2213820865765
- HouldenHSchneiderSAPaudelRMelchersASchwingenschuhPEdwardsMet alTHAP1 mutations (DYT6) are an additional cause of early-onset dystoniaNeurology20107484685010.1212/WNL.0b013e3181d5276d20211909
- GroenJLYildirimERitzKBaasFvan HiltenJJvan der MeulenFWet alTHAP1 mutations are infrequent in spasmodic dysphoniaMov Disord2011261952195410.1002/mds.2368221538522
- GolanskaEGajosASierutaMSzybkaMRudzinskaMOchudloSet alScreening for THAP1 mutations in Polish patients with dystonia shows known and novel substitutionsPloS one201510e012965610.1371/journal.pone.012965626087139
- XiaoJZhaoYBastianRWPerlmutterJSRacetteBATabbalSDet alNovel THAP1 sequence variants in primary dystoniaNeurology20107422923810.1212/WNL.0b013e3181ca00ca20083799
- DjarmatiASchneiderSALohmannKWinklerSPawlackHHagenahJet alMutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening studyLancet Neurol2009844745210.1016/S1474-4422(09)70083-319345148
- GiriSNaiyaTEqubalZSankhlaCSDasSKRayKet alGenetic screening of THAP1 in primary dystonia patients of IndiaNeurosci Lett2017637313710.1016/j.neulet.2016.11.06027913194
- VemulaSRXiaoJZhaoYBastianRWPerlmutterJSRacetteBAet alA rare sequence variant in intron 1 of THAP1 is associated with primary dystoniaMol genet genom med2014226127210.1002/mgg3.67
- XiaoJZhaoYBastianRWPerlmutterJSRacetteBATabbalSDet alThe c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystoniaMov Disord20112654955210.1002/mds.2355121370264
- DardiotisEXiromerisiouGHadjichristodoulouCTsatsakisAMWilksMFHadjigeorgiouGMThe interplay between environmental and genetic factors in Parkinson's disease susceptibility: the evidence for pesticidesToxicology2013307172310.1016/j.tox.2012.12.01623295711
- FuchsTSaunders-PullmanRMasuhoILucianoMSRaymondDFactorSet alMutations in GNAL cause primary torsion dystoniaNat Genet201345889210.1038/ng.249623222958
- MiaoJWanXHSunYFengJCChengFBMutation screening of GNAL gene in patients with primary dystonia from Northeast ChinaParkinsonism Relat Disord20131991091210.1016/j.parkreldis.2013.05.01123759320
- CarapitoRPaulNUntrauMLe GentilMOttLAlsalehGet alA de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystoniaMov Disord20153042342710.1002/mds.2611525545163
- NewmanJRTodorovicMSilburnPASutherlandGTMellickGDLack of reproducibility in re-evaluating associations between GCH1 polymorphisms and Parkinson's disease and isolated dystonia in an Australian case—control groupParkinsonism Relat Disord201420(6)6687010.1016/j.parkreldis.2014.02.01424674769
- OpladenTHoffmannGHorsterFHinzABNeidhardtKKleinCet alClinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemiaMov Disord20112615716110.1002/mds.2332920818608
- HwuWLChiouYWLaiSYLeeYMDopa-responsive dystonia is induced by a dominant-negative mechanismAnn Neurol20004860961310.1002/1531-8249(200010)48:4609::AID-ANA7>;3.0.CO;2-H11026444
- RothmanKJDisengaging from statistical significanceEur J Epidemiol20163144344410.1007/s10654-016-0158-227272951
- TanabeLMKimCEAlagemNDauerWTPrimary dystonia: molecules and mechanismsNat Rev Neurol2009559860910.1038/nrneurol.2009.16019826400
- IchinoseHOhyeTTakahashiESekiNHoriTSegawaMet alHereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I geneNat Genet1994823624210.1038/ng1194-2367874165
- MisbahuddinAPlaczekMRChaudhuriKRWoodNWBhatiaKPWarnerTTA polymorphism in the dopamine receptor DRD5 is associated with blepharospasmNeurology20025812412610.1212/WNL.58.1.12411781417
- PlaczekMRMisbahuddinAChaudhuriKRWoodNWBhatiaKPWarnerTTCervical dystonia is associated with a polymorphism in the dopamine (D5) receptor geneJ Neurol Neurosurg Psychiatry20017126226410.1136/jnnp.71.2.26211459908
- BrancatiFValenteEMCastoriMVanacoreNSessaMGalardiGet alRole of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystoniaJ Neurol Neurosurg Psychiatry20037466566610.1136/jnnp.74.5.66512700316
- MisbahuddinAPlaczekMRWarnerTTFocal dystonia is associated with a polymorphism of the dopamine D5 receptor geneAdv Neurol20049414314614509667
- HousleyDJNikolasMVentaPJJerniganKAWaldmanIDNiggJTet alSNP discovery and haplotype analysis in the segmentally duplicated DRD5 coding regionAnn Hum Genet200973(Pt 3)27428210.1111/j.1469-1809.2009.00513.x19397556
- GingrichJACaronMGRecent advances in the molecular biology of dopamine receptorsAnnu Rev Neurosci19931629932110.1146/annurev.ne.16.030193.0015038460895
- ZeunerKEAcewiczAKnutzenADresslerDLohmannKWittKDopamine DRD2 polymorphism (DRD2/ANNK1-Taq1A) is not a significant risk factor in writer’s crampJ Neurogenet20163027627910.1080/01677063.2016.123891627696930
- GroenJLSimon-SanchezJRitzKBochdanovitsZFangYvan HiltenJJet alCervical dystonia and genetic common variation in the dopamine pathwayParkinsonism Relat Disord20131934634910.1016/j.parkreldis.2012.08.01622981186
- GroenJLRitzKWarnerTTBaasFTijssenMADRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystoniaParkinsonism Relat Disord20142078278510.1016/j.parkreldis.2014.04.00224768614
- LohmannKSchmidtASchillertAWinklerSAlbaneseABaasFet alGenome-wide association study in musician’s dystonia: a risk variant at the arylsulfatase G locus?Mov Disord20142992192710.1002/mds.2579124375517
- MokKYSchneiderSATrabzuniDStamelouMEdwardsMKasperaviciuteDet alGenomewide association study in cervical dystonia demonstrates possible association with sodium leak channelMov Disord20142924525110.1002/mds.2573224227479
- NibbelingESchaakeSTijssenMAWeissbachAGroenJLAltenmullerEet alAccumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystoniaJ Neurol20152621340134310.1007/s00415-015-7718-325825126
- SardielloMAnnunziataIRomaGBallabioASulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipHum Mol Genet2005143203321710.1093/hmg/ddi35116174644
- AbitbolMThibaudJLOlbyNJHitteCPuechJPMaurerMet alA canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosisProc Natl Acad Sci USA2010107147751478010.1073/pnas.091420610720679209
- Gomez-GarrePHuertas-FernandezICaceres-RedondoMTAlonso-CanovasABernal-BernalIBlanco-OlleroAet alLack of validation of variants associated with cervical dystonia risk: a GWAS replication studyMov Disord2014291825182810.1002/mds.2604425256078
- ZhouQYangJCaoBChenYWeiQOuRet alAssociation analysis of NALCN polymorphisms rs1338041 and rs61973742 in a Chinese population with isolated cervical dystoniaParkinsons Dis20162016928179010.1155/2016/928179027239368
- TopalidouICooperKPereiraLAilionMDopamine negatively modulates the NCA ion channels in C. elegansPLoS Genet201713e100703210.1371/journal.pgen.100703228968387
- DomingoAErroRLohmannKNovel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencingMov Disord20163147147710.1002/mds.2660026991507
- CoughlinDGBardakjianTMSpindlerMDeikAHereditary myoclonus dystonia: a novel sgce variant and phenotype including intellectual disabilityTremor Other Hyperkinet Mov2018810.7916/D8J11FRZ
- PatnalaRClementsJBatraJCandidate gene association studies: a comprehensive guide to useful in silico toolsBMC Genet2013143910.1186/1471-2156-14-3923656885
- OterdoomDLMvan EgmondMEAscencaoLCvan DijkJMCSaryyevaABeudelMet alReversal of status dystonicus after relocation of pallidal electrodes in DYT6 generalized dystoniaTremor Other Hyperkinet Mov20188
- ZintzarasELauJTrends in meta-analysis of genetic association studiesJ Hum Genet2008531910.1007/s10038-007-0223-518071627
- DefazioGBerardelliAHallettMDo primary adult-onset focal dystonias share aetiological factors?Brain2007130(Pt 5)1183119310.1093/brain/awl35517242025
- DefazioGMatarinMPeckhamELMartinoDValenteEMSingletonAet alThe TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasmMov Disord20092461361610.1002/mds.2247119202559
- EvangelouEMaraganoreDMAnnesiGBrighinaLBriceAElbazAet alNon-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson’s disease: large-scale collaborative studyAm J Med Genet B Neuropsychiatr Genet2010153b220810.1002/ajmg.b.3098019475631
- TheunsJVerstraetenASleegersKWautersEGijselinckISmoldersSet alGlobal investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseNeurology2014831906191310.1212/WNL.000000000000101225326098
- The LancetNAir pollution and brain health: an emerging issueLancet Neurol20181710310.1016/S1474-4422(17)30462-329413304
- VidailhetMGrabliDRozeEPathophysiology of dystoniaCurr Opin Neurol20092240641310.1097/WCO.0b013e32832d9ef319512924
- CardonLRBellJIAssociation study designs for complex diseasesNat Rev Genet20012919910.1038/3505254311253062
- WangKLiMHakonarsonHAnalysing biological pathways in genome-wide association studiesNat Rev Genet20101184385410.1038/nrg288421085203
- LiYRowlandCXiromerisiouGLagierRJSchrodiSJDradiotisEet alNeither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's diseasePloS one20083e270710.1371/journal.pone.000270718628988
- WassersteinRLLazarNAThe ASA’s statement on p-values: context, process, and purposeAm Stat2016701293310.1080/00031305.2016.1154108
- GreenlandSInvited commentary: the need for cognitive science in methodologyAm J Epidemiol201718663964510.1093/aje/kwx25928938712