Valentina Alari
Milan, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.
Journal: Orphanet journal of rare diseases
Published: March 14, 2025
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
Journal: International journal of molecular sciences
Published: October 11, 2022
Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein-Taybi Intellectual Disability Syndromes.
Journal: Frontiers in neuroscience
Published: July 22, 2021
Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.
Journal: Neural regeneration research
Published: June 08, 2021
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Journal: International journal of molecular sciences
Published: April 23, 2021
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
Journal: American journal of medical genetics. Part A
Published: April 26, 2020
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
Journal: Molecular neurobiology
Published: March 09, 2020
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Journal: Stem cell research
Published: April 27, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Journal: Stem cell research
Published: December 11, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026