Browsing Universitätsbibliographie by Author "Theurer, Yvonne"

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Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

Bonifert, Tobias; Menendez, Irene Gonzalez; Battke, Florian; Theurer, Yvonne; Synofzik, Matthis; Schoels, Ludger; Wissinger, Bernd (2016)
Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient

Hauser, Stefan; Erzler, Melanie; Theurer, Yvonne; Schuster, Stefanie; Schuele, Rebecca; Schoels, Ludger (2016)
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)

Hoeflinger, Philip; Theurer, Yvonne; Schuele, Rebecca; Schoels, Ludger; Hauser, Stefan (2016)
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Hauser, Stefan; Schuster, Stefanie; Theurer, Yvonne; Synofzik, Matthis; Schoels, Ludger (2016)
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

Hoeflinger, Philip; Hauser, Stefan; Theurer, Yvonne; Weissenberger, Stefanie; Wilke, Carlo; Schoels, Ludger (2016)
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

Bonifert, Tobias; Karle, Kathrin N.; Tonagel, Felix; Batra, Marion; Wilhelm, Christian; Theurer, Yvonne; Schoenfeld, Caroline; Kluba, Torsten; Kamenisch, York; Carelli, Valerio; Wolf, Julia; Gonzalez, Michael A.; Speziani, Fiorella; Schuele, Rebecca; Zuechner, Stephan; Schoels, Ludger; Wissinger, Bernd; Synofzik, Matthis (2014)

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