Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 von Bonifert, Tobias, Gonzalez Menendez, Irene, Battke, Florian, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger, Wissinger, Bernd

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Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome) von Hauser, Stefan, Schuster, Stefanie, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger

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Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5) von Höflinger, Philip, Theurer, Yvonne, Schüle, Rebecca, Schöls, Ludger, Hauser, Stefan

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Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5) von Hauser, Stefan, Höflinger, Philip, Theurer, Yvonne, Rattay, Tim W, Schöls, Ludger

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Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation von Höflinger, Philip, Hauser, Stefan, Theurer, Yvonne, Weißenberger, Stefanie, Wilke, Carlo, Schöls, Ludger

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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier von BONIFERT, Tobias, KARLE, Kathrin N, WOLF, Julia, GONZALEZ, Michael A, SPEZIANI, Fiorella, SCHÜLE, Rebecca, ZÜCHNER, Stephan, SCHÖLS, Ludger, WISSINGER, Bernd, SYNOFZIK, Matthis, TONAGEL, Felix, BATRA, Marion, WILHELM, Christian, THEURER, Yvonne, SCHOENFELD, Caroline, KLUBA, Torsten, KAMENISCH, York, CARELLI, Valerio

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Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient von Hauser, Stefan, Erzler, Melanie, Theurer, Yvonne, Schuster, Stefanie, Schüle, Rebecca, Schöls, Ludger

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