Search Results - Neidhardt, John

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  1. 1
    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

    Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells by Glaus, Esther, Schmid, Fabian, Da Costa, Romain, Berger, Wolfgang, Neidhardt, John

    Published 2011
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  2. 2
    Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

    Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation by Breuel, Saskia, Vorm, Mariann, Bräuer, Anja U., Owczarek-Lipska, Marta, Neidhardt, John

    Published 2019
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  3. 3
    A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy

    A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy by Korenke, Georg Christoph, Schulte, Björn, Biskup, Saskia, Neidhardt, John, Owczarek-Lipska, Marta

    Published 2020
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  4. 4
    Translational Read-Through Therapy of RPGR Nonsense Mutations

    Translational Read-Through Therapy of RPGR Nonsense Mutations by Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John

    Published 2020
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  5. 5
    The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

    The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L by Vössing, Christine, Atigbire, Paul, Eilers, Jannis, Markus, Fenja, Stieger, Knut, Song, Fei, Neidhardt, John

    Published 2021
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  6. 6
    Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

    Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption by Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John

    Published 2021
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  7. 7
    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria by Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang

    Published 2008
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  8. 8
    Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

    Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations by Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang

    Published 2016
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  9. 9
    Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants

    Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants by Vagts, Jannes, Weiten, Arne, Scheve, Sabine, Kalvelage, Kristin, Swirski, Sebastian, Wöhlbrand, Lars, Neidhardt, John, Winklhofer, Michael, Rabus, Ralf

    Published 2020
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  10. 10
    Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

    Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome by Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang

    Published 2014
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  11. 11
    High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

    High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies by Song, Fei, Owczarek-Lipska, Marta, Ahmels, Tim, Book, Marius, Aisenbrey, Sabine, Menghini, Moreno, Barthelmes, Daniel, Schrader, Stefan, Spital, Georg, Neidhardt, John

    Published 2021
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  12. 12
    A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

    A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects by Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John

    Published 2021
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  13. 13
    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

    Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy by Wycisk, Katharina Agnes, Zeitz, Christina, Feil, Silke, Wittmer, Mariana, Forster, Ursula, Neidhardt, John, Wissinger, Bernd, Zrenner, Eberhart, Wilke, Robert, Kohl, Susanne, Berger, Wolfgang

    Published 2006
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  14. 14
    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

    Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies by Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Fleischhauer, Johannes, Zinkernagel, Martin S., Winkler, Niklas, Barthelmes, Daniel, Berger, Lieselotte, Gerth-Kahlert, Christina, Neidhardt, John, Berger, Wolfgang

    Published 2016
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  15. 15
    The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family

    The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family by Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Röger, Carsten, Hinz, Hebke, Jüschke, Christoph, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Da Costa, Romain, Neidhardt, John

    Published 2016
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  16. 16
    Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

    Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290 by Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro

    Published 2018
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  17. 17
    Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

    Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations by Di Iorio, Valentina, Karali, Marianthi, Melillo, Paolo, Testa, Francesco, Brunetti-Pierri, Raffaella, Musacchia, Francesco, Condroyer, Christel, Neidhardt, John, Audo, Isabelle, Zeitz, Christina, Banfi, Sandro, Simonelli, Francesca

    Published 2020
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  18. 18
    A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

    A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1 by Neßlauer, Anna-Maria, Gläser, Anne, Gräler, Markus, Engelmann, Robby, Müller-Hilke, Brigitte, Frank, Marcus, Burstein, Christine, Rolfs, Arndt, Neidhardt, John, Wree, Andreas, Witt, Martin, Bräuer, Anja U.

    Published 2019
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  19. 19
    Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

    Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract by Zuercher, Jurian, Neidhardt, John, Magyar, Istvan, Labs, Stephan, Moore, Anthony T., Tanner, Felix C., Waseem, Naushin, Schorderet, Daniel F., Munier, Francis L., Bhattacharya, Shomi, Berger, Wolfgang, Kloeckener-Gruissem, Barbara

    Published 2010
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  20. 20
    Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome

    Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome by Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, MacDonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang

    Published 2013
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