Search Results - "Santos, Bruno F. R."

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    Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function by Barbuti, Peter A., Ohnmacht, Jochen, Santos, Bruno F. R., Antony, Paul M., Massart, François, Cruciani, Gérald, Dording, Claire M., Pavelka, Lukas, Casadei, Nicolas, Kwon, Yong-Jun, Krüger, Rejko

    Published in Scientific reports (09-11-2021)
    “…Parkinson’s disease (PD) is characterised by the degeneration of A9 dopaminergic neurons and the pathological accumulation of alpha-synuclein. The p.A30P SNCA…”
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    Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson’s disease patient carrying the heterozygous p.A30P mutation in SNCA by Barbuti, Peter A., Santos, Bruno F.R., Dording, Claire M., Cruciani, Gérald, Massart, François, Hummel, Andreas, Krüger, Rejko

    Published in Stem cell research (01-10-2020)
    “…Dermal fibroblasts from a patient carrying a heterozygous c.88G > C mutation in the SNCA gene that encodes alpha-synuclein were reprogrammed to pluripotency by…”
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    Journal Article