Researchers



Results 141-160 of 308
Issue DateTitleAuthor(s)TypeМp-cat.
2017Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in childrenH. Baumann; I. Masuho; D. Patil; S. Steinrücke; E. Hebert; V. Dobričić; I. Hüning; G. Gillessen-Kaesbach; A. Westenberger; Savić Pavićević, Dušanka Lj.  ;
A. Münchau; C. Klein; A. Rolfs; K. Martemyanov; K. Lohmann;
Conference Paper
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2017A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.Perić, Stojan  ; Nikodinović-Glumac, Jelena; Töpf, Ana; Savić-Pavićević, Dušanka  ; Phillips, Lauren; Johnson, Katherine; Cassop-Thompson, Marcus; Xu, Liwen; Bertoli, Marta; Lek, Monkol;
MacArthur, Daniel; Brkušanin, Miloš  ; Milenković, Sanja  ; Milić-Rašić, Vedrana ; Banko, Bojan  ; Maksimović, Ružica  ; Lochmüller, Hanns; Stojanović, Vidosava ; Straub, Volker;
Article
21M21
2017Metabolic syndrome in myotonic dystrophy type 2Vujnić, M.; Calić, Z.; Bucma, T.; Perić, Stojan ; Pešović, Jovan  ; Basta, Ivana  ; Nikolić, Ana ; Kačar, Aleksandra  ; Savić-Pavićević, Dušanka  ; Rakočević-Stojanović, Vidosava Conference Paper
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2017Synergistic influence of the SMN2 and SERF1A gene copy number on childhood-onset spinal muscular atrophyBrkušanin, Miloš Đ.  ; A. Kosać; Jovanović, Vladimir M.  ; Pešović, Jovan Z.  ; Brajušković, Goran R.  ; Milić Rašić, Vedrana M. ; Savić Pavićević, Dušanka Lj.  Conference Paper
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2017Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2Rakočević-Stojanović, Vidosava ; Perić, Stojan  ; Dujmović-Bašuroski, Irena ; Drulović, Jelena ; Pešović, Jovan  ; Savić-Pavićević, Dušanka  Article
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2017Clusters of cognitive impairment among different phenotypes of myotonic dystrophy type 1 and type 2Perić, Stojan  ; Stojanović, Vidosava ; Mandić-Stojimenović, Gorana  ; Ilić, Vera; Kovačević, Maša ; Parojčić, Aleksandra; Pešović, Jovan  ; Mijajlović, Milija  ; Savić Pavićević, Dušanka  ; Meola, GiovanniArticle
22M22
2017Higher Frequency of Myotonic Dystrophy Type 2 than Type 1 Among Patients with Presenile CataractsPešović, Jovan Z.  ; Rakočević-Stojanović, Vidosava M. ; Perić, Stojan Z.  ; Senćanić, Ivan; Božić, Marija M.  ; Brkušanin, Miloš Đ.  ; Savić-Pavićević, Dušanka Lj.  Conference Paper
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2017Metabolic Syndrome and Brain White Matter Hyperintensities in Myotonic DystrophiesVujnić, Milorad; Perić, Stojan Z.  ; Damjanović, Dušan S.; Pešović, Jovan Z.  ; Savić-Pavićević, Dušanka Lj.  ; Bucma, Tatjana; Stojanović, Vidosava M. Conference Paper
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2017Copy number variations and microdeletions in Y-chromosomal azoospermia factor regions in patients from SerbiaKotarac, Nevena N. ; Vučić, Nemanja Lj. ; Vuković, Ivan I.  ; Kanazir, Selma D. ; Savić-Pavićević, Dušanka Lj.  ; Brajušković, Goran R.  Conference Paper
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2017Joint effects of variants in RNA editing and serotonergic system genes and stressful life events in predisposition for suicide attempt in psychiatric patientsKaranović, Jelena N.  ; Ivković, Maja D.  ; Pantović, Maja; Damjanović, Aleksandar G. ; Jovanović, Vladimir M.  ; Brajušković, Goran R.  ; Savić-Pavićević, Dušanka Lj.  Conference Paper
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2017Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansLohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina;
Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savić Pavićević, Dušanka  ; Münchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.;
Article
21aM21a
2017SMN2 gene copy number and promoter methylation as disease modifiers of childhood-onset spinal muscular atrophyBrkušanin, Miloš Đ.  ; A. Kosać; Jovanović, Vladimir M.  ; Pešović, Jovan Z.  ; Brajušković, Goran R.  ; Milić Rašić, Vedrana M. ; Savić Pavićević, Dušanka Lj.  Conference Paper
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2017SMN2 gene copy number and promoter methylation as disease modifers of childhood-onset spinal muscular atrophyBrkušanin, Miloš  ; Kosać, A.; Jovanović, A.; Pešović, Jovan  ; Brajušković, Goran  ; Milić-Rašić, V.; Savić-Pavićević, Dušanka  Conference Paper
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2017Personality traits in patients with myotonic dystrophy type 2Paunić, Teodora; Perić, Stojan Z.  ; Parojčić, Aleksandra; Savić-Pavićević, Dušanka Lj.  ; Vujnić, Milorad; Pešović, Jovan Z.  ; Basta, Ivana Ž.  ; Lavrnić, Dragana V. ; Stojanović, Vidosava M. Article
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2017Myotonic dystrophy type 2 - data from the Serbian RegistryPerić, Stojan Z.  ; Pešović, Jovan Z.  ; Basta, Ivana Ž.  ; Kačar, Aleksandra S.  ; Nikolić, Ana V. ; Perić, Marina; Marjanović, Ivan; Stević, Zorica D. ; Lavrnić, Dragana V. ; Savić-Pavićević, Dušanka Lj.  ;
Rakočević-Stojanović, Vidosava M. ;
Conference Paper
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2017Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patientsKaranović, Jelena  ; Ivković, Maja  ; Jovanović, Vladimir  ; Šviković, Saša; Pantović-Stefanović, Maja; Brkušanin, Miloš  ; Damjanović, Aleksandar ; Brajušković, Goran  ; Savić-Pavićević, Dušanka  Article
22M22
2017Genetic variants in RNA-induced silencing complex genes and prostate cancerNikolić, Z.  ; Savić Pavićević, Dušanka  ; Vučić, Nemanja ; Cerović, Snežana  ; Vukotić, V.; Brajušković, Goran  Article
21M21
2017Association of variants in RNA editing genes, serotonergic system genes and stressful life events with suicide attempt in psychiatric patientsKaranović, Jelena N.  ; Ivković, Maja D.  ; Pantović, Maja; Damjanović, Aleksandar G. ; Jovanović, Vladimir M.  ; Brajušković, Goran R.  ; Savić-Pavićević, Dušanka Lj.  Conference Paper
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2016A novel recessive TTN founder mutation is causing a distal myopathy phenotype in a Serbian patient cohortJ. Nikodinović-Glumac; A. Topf; H. Lochmüller; Savić Pavićević, Dušanka Lj.  ; M. Bertoli; M. Lek; D. MacArthur; L. Xu; Perić, Stojan Z.  ; Milić Rašić, Vedrana M. ;
Brkušanin, Miloš Đ.  ; Milenković, Sanja M.  ; M. Cassop-Thompson; B. Banko; Maksimović, Ružica M.  ; Stojanović, Vidosava M. ; V. Straub;
Conference Paper
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2016Clusters of cognitive impairment among different forms of myotonic dystrophiesPerić, Stojan  ; Mandić-Stojimenović, Gorana  ; Ilić, Vera; Kovačević, Maša ; Parojčić, Aleksandra; Dobričić, Valerija ; Pešović, Jovan  ; Novaković, Ivana  ; Savić-Pavićević, Dušanka  ; Stojanović, Vidosava Conference Paper
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