Miriam Giacomarra

Palermo, 90146, Italy

Last Updated: 09/26/2026

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Found 9 publications

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.

Journal: Orphanet journal of rare diseases

Published: January 09, 2026

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Journal: Biomedicines

Published: March 03, 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

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

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.

Journal: International journal of molecular sciences

Published: June 12, 2024

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Journal: Journal of clinical medicine

Published: February 12, 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

Effects of Inhibition of IKK Kinase Phosphorylation On the Cellular Defence System and HSP90 Activity.

Effects of Inhibition of IKK Kinase Phosphorylation On the Cellular Defence System and HSP90 Activity.

Journal: Inflammation

Published: May 01, 2023

The Keap1 signaling in the regulation of HSP90 pathway.

The Keap1 signaling in the regulation of HSP90 pathway.

Journal: Cell stress & chaperones

Published: May 24, 2021

Showing 1-9 of 9

Last Updated: 09/26/2026