Simone Barattucci
机构:MRC Prion Unit, University College London · ORCID:0009-0006-8380-2931
发表论文 10 篇 · 总被引 162 次 · h-index 6
代表论文
- Creation of de novo cryptic splicing for ALS and FTD precision medicine (2024 · Science · 被引 35)
- Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs (2024 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 35)
- TDP-43 loss induces cryptic polyadenylation in ALS/FTD (2025 · Nature Neuroscience · 被引 28)
- TDP-43 loss induces extensive cryptic polyadenylation in ALS/FTD (2024 · bioRxiv (Cold Spring Harbor Laboratory) · 被引 25)
- TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD (2025 · Nature Neuroscience · 被引 23)
- Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant (2022 · Journal of Biological Chemistry · 被引 10)