Yvonne Theurer
German Center for Neurodegenerative Diseases(DE)German Center for Neurodegenerative Diseases(DE)Hertie Institute for Clinical Brain Research(DE)University of Tübingen(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Nerve injury and regeneration, Protein Tyrosine Phosphatases, Neurological diseases and metabolism
Most-Cited Works
- → Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier(2014)78 cited
- → Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1(2016)49 cited
- → Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)(2016)7 cited
- → Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)(2016)7 cited
- → Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient(2016)5 cited
- → Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation(2016)