Paolo Prontera

Perugia, 06129, Italy

Last Updated: 09/26/2026

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Found 110 publications

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.

Journal: Diagnostics (Basel, Switzerland)

Published: April 27, 2026

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

Modulation of L-Type Calcium Currents by Resveratrol-Induced Myogenesis in C2C12 Cells.

Modulation of L-Type Calcium Currents by Resveratrol-Induced Myogenesis in C2C12 Cells.

Journal: Cells

Published: December 05, 2025

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

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

Journal: Human molecular genetics

Published: August 29, 2025

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Journal: eLife

Published: August 27, 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

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.

Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.

Journal: International journal of molecular sciences

Published: May 20, 2025

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

Journal: Epilepsia

Published: December 03, 2024

Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

Journal: Journal of neurology

Published: October 30, 2024

Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells.

Potassium Current Signature of Neuronal/Glial Progenitors in Amniotic Fluid Stem Cells.

Journal: Cells

Published: October 28, 2024

Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.

Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.

Journal: BMC cancer

Published: September 30, 2024

Showing 1-12 of 110

Last Updated: 09/26/2026