Roberta De Mori
Rome, 00143, Italy
Last Updated: 09/26/2026
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Found 9 publications
Dysregulation of Immune Mediators and Synaptic Plasticity in Central Nervous System Disorders.
Journal: Cells
Published: December 10, 2025
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
Journal: American journal of human genetics
Published: August 13, 2025
Cell Cycle Dysfunction and Metabolic Alterations Consistent With Pathological Tau in Progressive Supranuclear Palsy Derived Fibroblasts.
Journal: Molecular neurobiology
Published: August 06, 2025
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Journal: Cell and tissue research
Published: August 04, 2023
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Journal: Human mutation
Published: December 30, 2020
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
Journal: Brain : a journal of neurology
Published: December 29, 2018
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
Journal: American journal of human genetics
Published: June 01, 2017
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
Journal: PLoS biology
Published: July 16, 2015
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells.
Journal: Differentiation; research in biological diversity
Published: September 02, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026