UZH-Logo

Maintenance Infos

Browse by Creators - Zurich Open Repository and Archive

Navigate back| Up a level
Export as
Number of items: 21.

Schmid, F; Hiller, T; Korner, G; Glaus, E; Berger, W; Neidhardt, J (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Human Gene Therapy, 32(7):815-824.

Kloeckener-Gruissem, B; Neidhardt, J; Magyar, I; Plauchu, H; Zech, J C; Morlé, L; Palmer-Smith, S M; MacDonald, M J; Nas, V; Fry, A E; Berger, W (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. European Journal of Human Genetics, 21(3):352-356.

Glaus, E; Schmid, F; Da Costa, R; Berger, W; Neidhardt, J (2011). Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Molecular Therapy, 19(5):936-941.

Neidhardt, J. Retinal degeneration: Molecular bases, relevance of splicing and therapeutic approaches. 2011, University of Zurich, Faculty of Medicine.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Berger, W; Kloeckener-Gruissem, B; Neidhardt, J (2010). The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research, 29(5):335-375.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Schmid, F; Glaus, E; Kloeckener-Gruissem, B; Berger, W; Neidhardt, J (2010). Mutation- and Tissue-Specific Alterations of RPGR Transcripts. Investigative Ophthalmology and Visual Science, 51(3):1628-1635.

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Meier, I D; Bernreuther, C; Tilling, T; Neidhardt, J; Wong, Y W; Schulze, C; Streichert, T; Schachner, M (2010). Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression. FASEB Journal, 24(6):1714-1724.

Tanner, G; Glaus, E; Barthelmes, D; Ader, M; Fleischhauer, J; Pagani, F; Berger, W; Neidhardt, J (2009). Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Human Mutation, 30(2):255-263.

Neidhardt, J; et al; Glaus, E; Lorenz, B (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular Vision, 14:1081-1093.

Kloeckener-Gruissem, B; Vandekerckhove, K; Nürnberg, G; Neidhardt, J; Zeitz, C; Nürnberg, P; Schipper, I; Berger, W (2008). Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. American Journal of Human Genetics, 82(3):772-779.

Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; Shi, W; Feil, S; Imsand, C; Nelson, J; Grimm, C; Rülicke, T; Fundele, R; Neidhardt, J; Berger, W (2008). Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biology of Reproduction, 79:608-617.

Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; Glaus, E; Feil, S; Berger, W (2008). Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. European Journal of Neuroscience, 27(10):2619-2628.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; Berger, W (2007). Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Human Mutation, 28(8):771-80.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

This list was generated on Fri Jul 21 22:24:43 2017 CEST.