Emanuela M. Marsana

Palermo, 90146, Italy

Last Updated: 09/26/2026

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Found 10 publications

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.

Journal: Molecular metabolism

Published: December 23, 2025

New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases.

New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases.

Journal: Frontiers in immunology

Published: November 17, 2025

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Journal: International journal of molecular sciences

Published: February 10, 2025

The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Journal: International journal of molecular sciences

Published: December 20, 2024

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Journal: International journal of molecular sciences

Published: December 19, 2024

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.

Journal: International journal of molecular sciences

Published: December 10, 2024

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.

Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.

Journal: International journal of molecular sciences

Published: April 19, 2024

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.

Journal: International journal of molecular sciences

Published: September 22, 2023

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.

Journal: Biology

Published: May 05, 2022

Pompe disease: pathogenesis, molecular genetics and diagnosis.

Pompe disease: pathogenesis, molecular genetics and diagnosis.

Journal: Aging

Published: May 30, 2020

Showing 1-10 of 10

Last Updated: 09/26/2026