Rossella Franchini

机构：University of Verona · ORCID：0009-0003-6530-374X

发表论文 9 篇 · 总被引 28 次 · h-index 4

代表论文

• N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson’s disease models (2026 · Journal of Clinical Investigation · 被引 5)
• The CRISPR ‐Cas9 knockout DDC SH ‐ SY 5 Y in vitro model for AADC deficiency provides insight into the pathogenicity of R 34 7Q and L 353 P variants: a cross‐sectional structural and functional analysis (2025 · FEBS Journal · 被引 5)
• Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein (2024 · Journal of Inherited Metabolic Disease · 被引 5)
• Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders (2023 · Biochemical and Biophysical Research Communications · 被引 5)
• An attenuated, adult case of AADC deficiency demonstrated by protein characterization (2024 · Molecular Genetics and Metabolism Reports · 被引 4)
• N-acetyl-l-leucine lowers pS129-synuclein and improves synaptic function in models of Parkinson’s disease (2025 · Research Square · 被引 3)