Martina Venditti

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

Marialetizia Motta, Giulia Fasano, Sina Gredy et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions

Sara Bobone, Luca Pannone, Barbara Biondi et al. · Journal of Medicinal Chemistry · 2021 · 53 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism

Filippo Manti, Francesca Nardecchia, Sabina Barresi et al. · Parkinsonism & Related Disorders · 2018 · 33 citations

Life Sciences, Neurology, Neuroscience +14

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

Giulia Fasano, Valentina Muto, Francesca Clementina Radio et al. · Nature Communications · 2022 · 22 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Simone Martinelli, Viviana Cordeddu, Serena Galosi et al. · Parkinsonism & Related Disorders · 2020 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13