Sara Benedetti

Milan, 20097, Italy

Last Updated: 09/26/2026

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Found 59 publications

Correction: Mesoangioblasts at 20: from the embryonic aorta to the patient bed.

Correction: Mesoangioblasts at 20: from the embryonic aorta to the patient bed.

Journal: Frontiers in genetics
Published: May 18, 2026

A novel FLNA missense variant in a mother-daughter pair with epilepsy: case series evidence of variable multisystem expressivity.

A novel FLNA missense variant in a mother-daughter pair with epilepsy: case series evidence of variable multisystem expressivity.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: May 06, 2026

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications.

Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications.

Journal: Genes
Published: April 14, 2026

GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.

GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.

Journal: Molecular therapy. Advances
Published: February 06, 2026

Tetralogy of Fallot: Genetic, Epigenetic and Clinical Insights into a Multifactorial Congenital Heart Disease.

Tetralogy of Fallot: Genetic, Epigenetic and Clinical Insights into a Multifactorial Congenital Heart Disease.

Journal: Genes
Published: November 28, 2025

Dropped Head Syndrome Unmasking Myotonic Dystrophy Type 1 in a Patient with Parkinson's Disease: A Case Report and a Case-Based Review.

Dropped Head Syndrome Unmasking Myotonic Dystrophy Type 1 in a Patient with Parkinson's Disease: A Case Report and a Case-Based Review.

Journal: Movement disorders clinical practice
Published: November 03, 2025

Suboptimal contraceptive counseling and use in women with autoimmune rheumatic diseases of childbearing age: findings from a cross-sectional survey of patients.

Suboptimal contraceptive counseling and use in women with autoimmune rheumatic diseases of childbearing age: findings from a cross-sectional survey of patients.

Journal: Rheumatology international
Published: May 13, 2025

When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

Journal: International journal of molecular sciences
Published: July 10, 2024

Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study.

Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study.

Journal: RMD open
Published: January 08, 2024

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.

Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.

Journal: International journal of molecular sciences
Published: April 19, 2023

Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies: A Pilot Report.

Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies: A Pilot Report.

Journal: JACC. Basic to translational science
Published: December 12, 2022

Mesoangioblasts at 20: From the embryonic aorta to the patient bed.

Mesoangioblasts at 20: From the embryonic aorta to the patient bed.

Journal: Frontiers in genetics
Published: September 28, 2022
Showing 1-12 of 59

Last Updated: 09/26/2026