Leonard Petrucelli

机构：Mayo Clinic, University of Miami, Jacksonville College, WinnMed, Mayo Clinic in Florida, Indiana University – Purdue University Indianapolis · ORCID：0000-0003-2959-129X

发表论文 535 篇 · 总被引 44478 次 · h-index 114

代表论文

• TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes (2025 · Nature Neuroscience · 被引 32)
• TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD (2025 · Nature Neuroscience · 被引 21)
• Molecular impact of antisense oligonucleotide therapy in C9orf72-associated ALS (2025 · Cell · 被引 13)
• Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction (2026 · Science Translational Medicine · 被引 4)
• CRISPR activation of the ribosome-associated quality control factor ASCC3 ameliorates fragile X syndrome phenotypes in mice (2025 · Science Translational Medicine · 被引 3)
• Endolysosomal dysfunction impairs proteostasis and induces neurodegeneration in vivo (2025 · iScience · 被引 3)