Antonella Lauri
Rome, 00146, Italy
Last Updated: 09/26/2026
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Found 15 publications
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.
Journal: Brain : a journal of neurology
Published: November 26, 2025
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.
Journal: Molecular genetics and metabolism
Published: November 13, 2025
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.
Journal: European journal of human genetics : EJHG
Published: September 11, 2025
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
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.
Journal: Molecular medicine (Cambridge, Mass.)
Published: September 15, 2023
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Journal: American journal of human genetics
Published: September 13, 2023
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
Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.
Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.
Journal: Frontiers in molecular neuroscience
Published: January 19, 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
Last Updated: 09/26/2026