Martina Venditti
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 10 publications
Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: July 29, 2025
An Efficient Protocol to Assess ERK Activity Modulation in Early Zebrafish Noonan Syndrome Models via Live FRET Microscopy and Immunofluorescence.
Journal: Journal of visualized experiments : JoVE
Published: May 19, 2025
A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos.
Journal: Scientific reports
Published: September 12, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Journal: Human molecular genetics
Published: June 16, 2022
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
Journal: Journal of medicinal chemistry
Published: October 29, 2021
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Journal: American journal of human genetics
Published: July 21, 2021
In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale.
Journal: Frontiers in cell and developmental biology
Published: December 15, 2020
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Journal: Parkinsonism & related disorders
Published: September 27, 2019
Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Journal: Parkinsonism & related disorders
Published: August 29, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026