Sara Gibertini

Via Celoria 11
Milan, 20133, Italy

Last Updated: 09/26/2026

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Found 34 publications

Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients.

Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients.

Journal: Journal of neurology

Published: May 04, 2026

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Journal: Journal of neurology

Published: January 21, 2026

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Journal: Biomolecules

Published: July 14, 2025

Autosomal recessive Bethlem myopathy: a 30-year journey.

Autosomal recessive Bethlem myopathy: a 30-year journey.

Journal: Journal of neurology

Published: April 09, 2025

Evaluation of aggrephagy markers in myofibrillar myopathies.

Evaluation of aggrephagy markers in myofibrillar myopathies.

Journal: Acta neuropathologica communications

Published: March 04, 2025

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy.

Genetic variability in the PLIN4 gene: A new sequence duplication causing autophagic vacuolar myopathy.

Journal: Genes & diseases

Published: December 13, 2024

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

Journal: International journal of molecular sciences

Published: May 07, 2024

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.

Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.

Journal: Human molecular genetics

Published: June 08, 2023

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.

Journal: Journal of neuromuscular diseases

Published: April 03, 2023

Protein Aggregates and Aggrephagy in Myopathies.

Protein Aggregates and Aggrephagy in Myopathies.

Journal: International journal of molecular sciences

Published: March 30, 2023

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients.

Journal: Journal of neurology

Published: March 06, 2023

VCP-related myopathy: a case series and a review of literature.

VCP-related myopathy: a case series and a review of literature.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: January 11, 2023

Showing 1-12 of 34

Last Updated: 09/26/2026