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Преглед према Аутор Klein, Christine
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Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
---|---|---|---|---|
2006 | Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation | Stefanova, Elka ; Đarmati, Ana; Momčilović, Dragana; Dragašević-Mišković, Nataša ; Svetel, Marina ; Klein, Christine; Kostić, Vladimir | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2006 | Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease Role of a single hit? | Hedrich, Katja; Hagenah, Johann M; Djarmati, Ana; Hiller, A; Lohnau, T; Lasek, K; Grunewald, RA; Hilker, R; Steinlechner, S; Boston, H;
Kock, Norman; Schneider-Gold, C; Kress, W; Siebner, Hartwig R; Binkofski, Ferdinand; Lencer, R; Munchau, A; Klein, Christine;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2014 | De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient | Dobričić, Valerija; Kresojević, Nikola ; Westenberger, Ana; Svetel, Marina ; Tomić, Aleksandra ; Ralić, Vesna; Petrović, Igor ; Lukić, Milica Ječmenica ; Lohmann, Katja; Novaković, Ivana ; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2007 | Delayed-onset dystonia due to perinatal asphyxia - a prospective study | Cerovac, Nataša ; Petrović, Igor ; Klein, Christine; Kostić, Vladimir | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2004 | DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease | Hedrich, Katja; Djarmati, Ana; Schafer, N; Hering, R; Wellenbrock, C; Weiss, PH; Hilker, R; Vieregge, Peter; Ozelius, LJ; Heutink, P;
Bonifati, V; Schwinger, E; Lang, Anthony E; Noth, J; Bressman, SB; Pramstaller, Peter P; Riess, O; Klein, Christine;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2009 | Dystonia plus syndromes | Berisavac, Iva I; Svetel, Marina V ; Djuric, Gordana M; Bogosavljevic, Visnja; Klein, Christine; Illarioshkin, SN | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
2002 | Evidence that paternal expression of the epsilon-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia | Muller, B; Hedrich, Katja; Kock, Norman; Dragasevic, Natasa T; Svetel, Marina V ; Garrels, J; Landt, O; Nitschke, M; Pramstaller, Peter P; Reik, W;
Schwinger, E; Sperner, J; Ozelius, LJ; Kostic, Vladimir S; Klein, Christine;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2011 | Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification | Kostić, Vladimir ; Lukić-Ječmenica, Milica ; Novaković, Ivana ; Dobričić, Valerija; Brajković, Lela; Krajinović, Maja; Klein, Christine; Pavlović, Aleksandra | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2006 | Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients | Dragašević-Mišković, Nataša ; Culjković, Biljana; Klein, Christine; Ristić, Aleksandar ; Keckarević-Marković, Milica ; Topisirović, Ivan; Vukosavić, Slobodanka; Svetel, Marina ; Kock, Norman; Stefanova, Elka ; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2021 | Frequency of Heterozygous Parkin (PRKN) Variants and Penetrance of Parkinson's Disease Risk Markers in the Population-Based CHRIS Cohort (✓) | Rueda, Maria Paulina Castelo; Raftopoulou, Athina; Goegele, Martin; Borsche, Max; Emmert, David B; Fuchsberger, Christian; Hantikainen, Essi M; Vukovic, Vladimir R ; Klein, Christine; Pramstaller, Peter P;
Pichler, Irene; Hicks, Andrew A;
| Научни чланак | 22M22 - Рад у истакнутом међ. часопису |
2012 | Frequency of the D620N Mutation in VPS35 in Parkinson Disease | Kumar, Kishore R.; Weissbach, Anne; Heldmann, Marcus; Kasten, Meike; Tunc, Sinem; Sue, Carolyn M.; Svetel, Marina ; Kostić, Vladimir ; Segura-Aguilar, Juan; Ramirez, Alfredo;
Simon, David K.; Vieregge, Peter; Münte, Thomas F.; Hagenah, Johann; Klein, Christine; Lohmann, Katja;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2017 | GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia (✓) | Dobričić, Valerija ; Tomić, Aleksandra ; Branković, Vesna; Kresojević, Nikola ; Janković, Milena ; Westenberger, Ana; Milić Rašić, Vedrana ; Klein, Christine; Novaković, Ivana ; Svetel, Marina ; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2019 | Gene expression analysis in cortical neurons differentiated from 32 induced pluripotent stem cell (iPSC) lines of THAP1 mutation carriers and controls | Baumann, Hauke; Trilck-Winkler, Michaela; Grosse, M; Munchau, Alexander; Kostic, Vladimir S; Klein, Christine; Kaiser, Frank J; Seibler, Philip; Lohmann, Katja | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
2019 | Generation and in-depth characterization of 20 induced pluripotent stem cell (iPSC) lines from 10 dystonia patients and healthy carriers of THAP1 mutations | Baumann, H; Trilck, M; Jahn, M; Muenchau, A; Kostic, Vladimir S; Klein, Christine; Seibler, P; Lohmann, Katja | Конференцијски рад | Мп категорија ће бити приказана накнадно. |
2004 | Genetic heterogeneity in ten families with myoclonus-dystonia | Schule, B; Kock, Norman; Svetel, Marina V ; Dragasevic, Natasa T; Hedrich, Katja; Aguiar, PD; Liu, L; Kabakci, Kemal; Garrels, J; Meyer, EM; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2013 | Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus? | Lohmann, Katja; Schmidt, Alexander; Schillert, Arne; Winkler, Susen; Albanese, Alberto; Baas, Frank; Bentivoglio, Anna Rita; Borngräber, Friederike; Brüggemann, Norbert; Defazio, Giovanni;
Del, Sorbo Francesca; Deuschl, Günther; Edwards, Mark J.; Gasser, Thomas; Gómez-Garre, Pilar; Graf, Julia; Groen, Justus L.; Grünewald, Anne; Hagenah, Johann; Hemmelmann, Claudia; Jabusch, Hans-Christian; Kaji, Ryuji; Kasten, Meike; Kawakami, Hideshi; Kostić, Vladimir ; Liguori, Maria; Mir, Pablo; Münchau, Alexander; Ricchiuti, Felicia; Schreiber, Stefan; Siegesmund, Katharina; Svetel, Marina ; Tijssen, Marina A.J.; Valente, Enza Maria; Westenberger, Ana; Zeuner, Kirsten E.; Zittel, Simone; Altenmüller, Eckart; Ziegler, Andreas; Klein, Christine;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
2006 | Heterozygous PINK1 mutations - a susceptibility factor for Parkinson disease? | Đarmati, Ana; Hedrich, Katja; Svetel, Marina ; Lohnau, Thora; Schwinger, Eberhard; Romac, Stanka; Pramstaller, Peter P.; Kostić, Vladimir ; Klein, Christine | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2011 | Identification and functional analysis of novel THAP1 mutations | Lohmann, Katja; Uflacker, Nils; Erogullari, Alev; Lohnau, Thora; Winkler, Susen; Dendorfer, Andreas; Schneider, Susanne A; Osmanovic, Alma; Svetel, Marina ; Ferbert, Andreas; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2006 | Intrafamilial phenotypic and genetic heterogeneity of dystonia | Kostić, Vladimir ; Svetel, Marina ; Kabakci, Kemal; Ristić, Aleksandar ; Petrović, Igor ; Schüle, Birgitt; Kock, Norman; Đarmati, Ana; Romac, Stanka; Klein, Christine | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
2021 | Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model | Baumann, Hauke; Ott, Fabian; Weber, Joachim; Trilck-Winkler, Michaela; Munchau, Alexander; Zittel, Simone; Kostic, Vladimir S; Kaiser, Frank J; Klein, Christine; Busch, Hauke;
Seibler, Philip; Lohmann, Katja;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |