Simona Zanotti

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 50 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

Beyond motor neurons: peripheral TDP-43 pathology in skeletal muscle and intramuscular nerves in amyotrophic lateral sclerosis.

Beyond motor neurons: peripheral TDP-43 pathology in skeletal muscle and intramuscular nerves in amyotrophic lateral sclerosis.

Journal: Brain communications

Published: January 13, 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

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Journal: American journal of human genetics

Published: August 18, 2024

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 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

Showing 1-12 of 50

Last Updated: 09/26/2026