Patrizia Ciscato

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 35 publications

High-plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the MACSima™ imaging platform: A pilot study.

High-plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the MACSima™ imaging platform: A pilot study.

Journal: Acta neuropathologica communications

Published: February 26, 2026

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

Journal: Frontiers in genetics

Published: February 11, 2026

Glycogenin-1 deficiency: a case report and review of the literature.

Glycogenin-1 deficiency: a case report and review of the literature.

Journal: Frontiers in genetics

Published: December 29, 2025

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Journal: European journal of human genetics : EJHG

Published: August 08, 2025

The Role of C/EBP-Homologous Protein in Idiopathic Inflammatory Myopathies.

The Role of C/EBP-Homologous Protein in Idiopathic Inflammatory Myopathies.

Journal: Journal of cellular and molecular medicine

Published: February 18, 2025

Age-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network.

Age-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network.

Journal: Life sciences

Published: February 12, 2025

A novel DNM2 variant associated with centronuclear myopathy: a case report.

A novel DNM2 variant associated with centronuclear myopathy: a case report.

Journal: Frontiers in genetics

Published: January 20, 2025

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.

Journal: BMC neurology

Published: September 12, 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

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.

Journal: Frontiers in neurology

Published: November 18, 2023

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.

Journal: International journal of molecular sciences

Published: October 24, 2023

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Lafora Disease: A Case Report and Evolving Treatment Advancements.

Journal: Brain sciences

Published: October 18, 2023

Showing 1-12 of 35

Last Updated: 09/26/2026