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Anzahl der Publikationen: 6
Zeitschriftenartikel
Boehm, Sybille; Splith, Victoria; Riedmayr, Lisa Maria; Rotzer, Rene Dominik; Gasparoni, Gilles; Nordstroem, Karl J. V.; Wagner, Johanna Elisabeth; Hinrichsmeyer, Klara Sonnie; Walter, Joern; Wahl-Schott, Christian; Fenske, Stefanie; Biel, Martin; Michalakis, Stylianos und Becirovic, Elvir
(2020):
A gene therapy for inherited blindness using dCas9-VPR-mediated transcriptional activation.
In: Science Advances, Bd. 6, Nr. 34, eaba5614
Panagiotopoulos, Anna-Lena; Karguth, Nina; Pavlou, Marina; Boehm, Sybille; Gasparoni, Gilles; Walter, Joern; Graf, Alexander; Blum, Helmut; Biel, Martin; Riedmayr, Lisa Maria und Becirovic, Elvir
(2020):
Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation.
In: Molecular Therapy-Nucleic Acids, Bd. 21: S. 1050-1061
Riedmayr, Lisa Maria; Böhm, Sybille; Michalakis, Stylianos und Becirovic, Elvir
(2018):
Construction and Cloning of Minigenes for in vivo Analysis of Potential Splice Mutations.
In: Bio-Protocol, Bd. 8, Nr. 5, e2760
Khan, Arif O.; Becirovic, Elvir; Betz, Christian; Neuhaus, Christine; Altmüller, Janine; Riedmayr, Lisa Maria; Motameny, Susanne; Nürnberg, Gudrun; Nürnberg, Peter und Bolz, Hanno J.
(2017):
A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
In: Scientific Reports, Bd. 7, 1411
[PDF, 2MB]
Becirovic, Elvir; Boehm, Sybille; Nguyen, Ong Nam Phuong; Riedmayr, Lisa Maria; Schroeder, Nadja; Giessl, Andreas; Michalakis, Stylianos und Biel, Martin
(2016):
Differential rescue of protein expression and localization of two adRP-linked PRPH2 mutants in rods is mediated by their specific binding characteristics.
In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12
Becirovic, Elvir; Böhm, Sybille; Nguyen, Ong Nam Phuong; Riedmayr, Lisa Maria; Koch, Mirja Annika; Schulze, Elisabeth; Kohl, Susanne; Borsch, Oliver; Santos-Ferreira, Tiago; Ader, Marius; Michalakis, Stylianos und Biel, Martin
(2016):
In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
In: PLOS Genetics 12(1), e1005811 [PDF, 8MB]
In: PLOS Genetics 12(1), e1005811 [PDF, 8MB]