Valentina Imperatore

Perugia, 06123, Italy

Last Updated: 09/26/2026

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Found 22 publications

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora Disease.

Journal: Genes

Published: February 06, 2026

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model.

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model.

Journal: International journal of molecular sciences

Published: September 18, 2025

Epm2bP71A and Epm2bD148N knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.

Epm2bP71A and Epm2bD148N knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.

Journal: Progress in neurobiology

Published: August 26, 2025

Epm2bP71A and Epm2bD148N knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.

Epm2bP71A and Epm2bD148N knock-in mouse models of Lafora disease exhibit distinct and pronounced neurological alterations.

Journal: Progress in neurobiology

Published: August 26, 2025

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease.

Journal: Epilepsia

Published: June 23, 2025

IRF2BPL: A new genotype for progressive myoclonus epilepsies.

IRF2BPL: A new genotype for progressive myoclonus epilepsies.

Journal: Epilepsia

Published: December 14, 2022

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Journal: Genes

Published: August 09, 2021

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

Journal: International journal of molecular sciences

Published: July 08, 2021

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.

Journal: BMC medical genomics

Published: May 23, 2021

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

Journal: American journal of medical genetics. Part A

Published: September 27, 2020

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Journal: Cancers

Published: January 11, 2019

Evidence of predisposing epimutation in retinoblastoma.

Evidence of predisposing epimutation in retinoblastoma.

Journal: Human mutation

Published: May 24, 2018

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Last Updated: 09/26/2026