Giada Rossignoli

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism

Joanne Ng, Serena Barral, Carmen De La Fuente Barrigon et al. · Science Translational Medicine · 2021 · 51 citations · Full text

Aromatic <scp>l</scp>-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

Giada Rossignoli, Karolin Krämer, Eleonora Lugarà et al. · Brain · 2021 · 30 citations · Full text

Neurochemical Biomarkers, Synaptic Signaling, Social Sciences +19

New variants of AADC deficiency expand the knowledge of enzymatic phenotypes

Riccardo Montioli, Giovanni Bisello, Mirco Dindo et al. · Archives of Biochemistry and Biophysics · 2020 · 23 citations · Full text

New Variants, Genetic Disorder, Natural Sciences +10

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

Riccardo Montioli, Alessandro Paiardini, Manju A. Kurian et al. · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · 2016 · 21 citations

Cellular Enzymology, Biochemistry, Natural Sciences +5

Neurodevelopmental and synaptic defects in <i>DNAJC6</i> parkinsonism, amenable to gene therapy

Lucia Abela, Lorita Gianfrancesco, Erica Tagliatti et al. · Brain · 2024 · 16 citations · Full text

Genetics, Molecular Biology, Synaptic Signaling +21