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

por Breuel, Saskia, Vorm, Mariann, Bräuer, Anja U., Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2019

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

por Owczarek-Lipska, Marta, Markus, Fenja, Bültmann, Eva, Korenke, G. Christoph, Neidhardt, John
Publicado 2022

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina

por Swirski, Sebastian, May, Oliver, Ahlers, Malte, Wissinger, Bernd, Greschner, Martin, Jüschke, Christoph, Neidhardt, John
Publicado 2023

Translational Read-Through Therapy of RPGR Nonsense Mutations

por Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John
Publicado 2020

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

por Vössing, Christine, Atigbire, Paul, Eilers, Jannis, Markus, Fenja, Stieger, Knut, Song, Fei, Neidhardt, John
Publicado 2021

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

por Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Publicado 2021

mRNA splicing is modulated by intronic microRNAs

por Farberov, Luba, Weissglas-Volkov, Daphna, Shapira, Guy, Zoabi, Yazeed, Schiff, Chen, Kloeckener-Gruissem, Barbara, Neidhardt, John, Shomron, Noam
Publicado 2023

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

por Tiwari, Amit, Lemke, Johannes, Altmueller, Janine, Thiele, Holger, Glaus, Esther, Fleischhauer, Johannes, Nürnberg, Peter, Neidhardt, John, Berger, Wolfgang
Publicado 2016

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations

por Usman, Muhammad, Jüschke, Christoph, Song, Fei, Kastrati, Dennis, Owczarek-Lipska, Marta, Eilers, Jannis, Pauleikhoff, Laurenz, Lange, Clemens, Neidhardt, John
Publicado 2023

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

por Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
Publicado 2014

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

por Song, Fei, Owczarek-Lipska, Marta, Ahmels, Tim, Book, Marius, Aisenbrey, Sabine, Menghini, Moreno, Barthelmes, Daniel, Schrader, Stefan, Spital, Georg, Neidhardt, John
Publicado 2021

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

por Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John
Publicado 2021

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

por Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Fleischhauer, Johannes, Zinkernagel, Martin S., Winkler, Niklas, Barthelmes, Daniel, Berger, Lieselotte, Gerth-Kahlert, Christina, Neidhardt, John, Berger, Wolfgang
Publicado 2016

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

por Reiff, Charlotte, Owczarek-Lipska, Marta, Spital, Georg, Röger, Carsten, Hinz, Hebke, Jüschke, Christoph, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Da Costa, Romain, Neidhardt, John
Publicado 2016

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

por 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
Publicado 2018

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

por 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
Publicado 2020

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

por 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.
Publicado 2019

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

por Nassisi, Marco, De Bartolo, Giuseppe, Mohand-Said, Saddek, Condroyer, Christel, Antonio, Aline, Lancelot, Marie-Elise, Bujakowska, Kinga, Smirnov, Vasily, Pugliese, Thomas, Neidhardt, John, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle
Publicado 2022

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

por Lemke, Johannes R, Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J, James, Victoria M, Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah
Publicado 2014