2013
Primary dystonias and genetic disorders with dystonia as clinical feature of the disease
Moghimi N, Jabbari B, Szekely AM. Primary dystonias and genetic disorders with dystonia as clinical feature of the disease. European Journal Of Paediatric Neurology 2013, 18: 79-105. PMID: 23911094, DOI: 10.1016/j.ejpn.2013.05.015.Peer-Reviewed Original ResearchConceptsPrimary dystoniaClinical featuresSustained muscle contractionsCharacteristic clinical featuresClinical entityAbnormal postureMovement disordersDystoniaClinical practiceClinical phenomenologyAdvances of geneticsGenetic syndromesMuscle contractionRepetitive movementsUnderlining etiologiesDisordersCommon formMonogenic disordersGenetic disordersMolecular underpinningsDetailed searchMendelian disordersComplex casesLarge groupSyndrome
2000
Werner protein recruits DNA polymerase δ to the nucleolus
Szekely A, Chen Y, Zhang C, Oshima J, Weissman S. Werner protein recruits DNA polymerase δ to the nucleolus. Proceedings Of The National Academy Of Sciences Of The United States Of America 2000, 97: 11365-11370. PMID: 11027336, PMCID: PMC17206, DOI: 10.1073/pnas.97.21.11365.Peer-Reviewed Original ResearchConceptsWerner proteinWRN proteinDNA replicationPolymerase deltaChromosomal DNA replicationTwo-hybrid screeningSubcellular localization studiesDNA polymerase δMajor DNA polymeraseDNA helicasesRecQ familyDNA transactionsDynamic relocalizationNucleolar proteinsCatalytic subunitPolymerase δC-terminusWRN geneWerner syndromeExonuclease activityPhysiological functionsMendelian disordersLocalization studiesLines of evidenceDNA polymerase