eNauka - pregled
Pregled prema Autor Hedrich, Katja
Prikaz rezultata 1 do 10 od 10
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 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;
| Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 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;
| Naučni članak | 21a+M21a+ - Vodeći međunarodni časopis kategorije M21a+ |
| 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;
| Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 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;
Berisavac, Ivana I
 ; Schwinger, E; Kramer, PL; Ozelius, LJ; Klein, Christine; Kostic, Vladimir S; | Article | 21aM21a |
| 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 | Article | 21M21 |
| 2004 | Mutations in DYT1 - Extension of the phenotypic and mutational spectrum | Kabakci, Kemal; Hedrich, Katja; Leung, JC; Mitterer, M; Vieregge, Peter; Lencer, R; Hagenah, Johann M; Garrels, J; Witt, K; Klostermann, F;
Svetel, Marina V
; Friedman, J; Kostic, Vladimir S; Bressman, SB; Breakefield, XO; Ozelius, LJ; Pramstaller, Peter P; Klein, Christine; | Article | 21a+M21a+ |
| 2005 | PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism | Klein, Christine; Djarmati, Ana; Hedrich, Katja; Schafer, N; Scaglione, C; Marchese, R; Kock, Norman; Schule, B; Hiller, A; Lohnau, T;
Winkler, Susan; Wiegers, K; Hering, R; Bauer, P; Riess, O; Abbruzzese, G; Martinelli, P; Pramstaller, Peter P;
| Article | 21M21 |
| 2007 | Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification | Djarmati, Ana; Gužvić, Miodrag ; Gruenewald, Anne; Lang, Anthony E.; Pramstaller, Peter P.; Simon, David K.; Kaindl, Angela M.; Vieregge, Peter; Nygren, Anders O. H.; Beetz, Christian;
Hedrich, Katja; Klein, Christine;
| Article | 21M21 |
| 2002 | Role of SC42 mutations in early- and late-onset dopa-responsive parkinsonism | Kock, Norman; Muller, B; Vieregge, Peter; Pramstaller, Peter P; Marder, K; Abbruzzese, G; Martinelli, P; Lang, Anthony E; Jacobs, H; Hagenah, Johann M;
Harris, J; Meija-Santana, H; Fahn, S; Hedrich, Katja; Kann, M; Gehlken, U; Culjkovic, Biljana; Schwinger, E; Wszolek, ZK; Zuhlke, C; Klein, Christine;
| Contribution to periodical | 21a+M21a+ |
| 2004 | The R98Q variation in DJ-1 represents a rare polymorphism | Hedrich, Katja; Schafer, N; Hering, R; Hagenah, Johann M; Lanthaler, AJ; Schwinger, E; Kramer, PL; Ozelius, LJ; Bressman, SB; Abbruzzese, G;
Martinelli, P; Kostic, Vladimir S; Pramstaller, Peter P; Vieregge, Peter; Riess, O; Klein, Christine;
| Contribution to periodical | 21a+M21a+ |