Denise A. Cassandrini

Verona, Italy

Last Updated: 09/26/2026

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Found 45 publications

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.

Journal: International journal of molecular sciences

Published: October 31, 2025

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Journal: Clinical genetics

Published: October 31, 2025

Longitudinal Comparison of Calprotectin and C-Reactive Protein in Rheumatoid Arthritis: Real-World Evidence Across Three Targeted Therapies.

Longitudinal Comparison of Calprotectin and C-Reactive Protein in Rheumatoid Arthritis: Real-World Evidence Across Three Targeted Therapies.

Journal: Diagnostics (Basel, Switzerland)

Published: October 30, 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

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Journal: Cells

Published: July 18, 2025

VMA21-X-linked myopathy in Peru: characterization of three families.

VMA21-X-linked myopathy in Peru: characterization of three families.

Journal: Neuromuscular disorders : NMD

Published: November 20, 2024

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Journal: Cells

Published: July 21, 2024

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.

Journal: Clinical neurology and neurosurgery

Published: April 06, 2023

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.

Journal: Genes

Published: November 25, 2022

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: September 30, 2022

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Journal: Acta neuropathologica communications

Published: February 03, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026