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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A. Laabs BH, et al. Among authors: dobricic v. Nat Commun. 2021 May 28;12(1):3216. doi: 10.1038/s41467-021-23491-4. Nat Commun. 2021. PMID: 34050153 Free PMC article.
Novel GNAL mutations in two German patients with sporadic dystonia.
Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C. Ziegan J, et al. Among authors: dobricic v. Mov Disord. 2014 Dec;29(14):1833-4. doi: 10.1002/mds.26066. Epub 2014 Nov 7. Mov Disord. 2014. PMID: 25382112 No abstract available.
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Dobričić V, Kresojević N, Žarković M, Tomić A, Marjanović A, Westenberger A, Cvetković D, Svetel M, Novaković I, Kostić VS. Dobričić V, et al. Parkinsonism Relat Disord. 2015 Oct;21(10):1256-9. doi: 10.1016/j.parkreldis.2015.08.001. Epub 2015 Aug 10. Parkinsonism Relat Disord. 2015. PMID: 26297380
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA. Lohmann K, et al. Among authors: dobricic v. Hum Mol Genet. 2017 Mar 15;26(6):1078-1086. doi: 10.1093/hmg/ddx018. Hum Mol Genet. 2017. PMID: 28087732 Free PMC article.
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Dobričić V, Tomić A, Branković V, Kresojević N, Janković M, Westenberger A, Rašić VM, Klein C, Novaković I, Svetel M, Kostić VS. Dobričić V, et al. Parkinsonism Relat Disord. 2017 Dec;45:81-84. doi: 10.1016/j.parkreldis.2017.09.017. Epub 2017 Sep 18. Parkinsonism Relat Disord. 2017. PMID: 28958832
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.
Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. Kulikovskaja L, et al. Among authors: dobricic v. Neurol Genet. 2018 Mar 27;4(2):e227. doi: 10.1212/NXG.0000000000000227. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29600274 Free PMC article. No abstract available.
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism.
Westenberger A, Reyes CJ, Saranza G, Dobricic V, Hanssen H, Domingo A, Laabs BH, Schaake S, Pozojevic J, Rakovic A, Grütz K, Begemann K, Walter U, Dressler D, Bauer P, Rolfs A, Münchau A, Kaiser FJ, Ozelius LJ, Jamora RD, Rosales RL, Diesta CCE, Lohmann K, König IR, Brüggemann N, Klein C. Westenberger A, et al. Among authors: dobricic v. Ann Neurol. 2019 Jun;85(6):812-822. doi: 10.1002/ana.25488. Epub 2019 May 3. Ann Neurol. 2019. PMID: 30973967
145 results