FRANCHINI, ROSSELLA
FRANCHINI, ROSSELLA
DIPARTIMENTO DI MEDICINA
An attenuated, adult case of AADC deficiency demonstrated by protein characterization
2024-01-01 Bisello, Giovanni; Saris, Christiaan G. J.; Franchini, Rossella; Verbeek, Marcel M.; Willemsen, Michel A. A. P.; Perduca, Massimiliano; Bertoldi, Mariarita
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders
2023-01-01 Riva, Antonella; Iacomino, Michele; Piccardo, Chiara; Franceschetti, Laura; Franchini, Rossella; Baroni, Alessandra; Minetti, Carlo; Bisello, Giovanni; Zara, Federico; Scala, Marcello; Striano, Pasquale; Bertoldi, Mariarita
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein
2025-01-01 Bisello, Giovanni; Franchini, Rossella; Carmona, Cristian Andres Carmona; Bertoldi, Mariarita
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis
2025-01-01 Carmona‐carmona, Cristian Andres; Bisello, Giovanni; Franchini, Rossella; Lunardi, Gianluigi; Galavotti, Roberta; Perduca, Massimiliano; Ribeiro, Rui P.; Belviso, Benny Danilo; Giorgetti, Alejandro; Caliandro, Rocco; Lievens, Patricia M. ‐J.; Bertoldi, Mariarita
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| An attenuated, adult case of AADC deficiency demonstrated by protein characterization | 1-gen-2024 | Bisello, Giovanni; Saris, Christiaan G. J.; Franchini, Rossella; Verbeek, Marcel M.; Willemsen, Michel A. A. P.; Perduca, Massimiliano; Bertoldi, Mariarita | |
| Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders | 1-gen-2023 | Riva, Antonella; Iacomino, Michele; Piccardo, Chiara; Franceschetti, Laura; Franchini, Rossella; Baroni, Alessandra; Minetti, Carlo; Bisello, Giovanni; Zara, Federico; Scala, Marcello; Striano, Pasquale; Bertoldi, Mariarita | |
| Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein | 1-gen-2025 | Bisello, Giovanni; Franchini, Rossella; Carmona, Cristian Andres Carmona; Bertoldi, Mariarita | |
| The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis | 1-gen-2025 | Carmona‐carmona, Cristian Andres; Bisello, Giovanni; Franchini, Rossella; Lunardi, Gianluigi; Galavotti, Roberta; Perduca, Massimiliano; Ribeiro, Rui P.; Belviso, Benny Danilo; Giorgetti, Alejandro; Caliandro, Rocco; Lievens, Patricia M. ‐J.; Bertoldi, Mariarita |