Luciano Merlini

Bologna, 40136, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 71 publications

Hair Follicle Microenvironment Changes in Collagen VI-Myopathy Patients with Alopecia.

Hair Follicle Microenvironment Changes in Collagen VI-Myopathy Patients with Alopecia.

Journal: Cells

Published: June 05, 2026

Role of hypertrophic adipocytes, collagen VI, and CD38 in adipose tissue fibrosis in obesity.

Role of hypertrophic adipocytes, collagen VI, and CD38 in adipose tissue fibrosis in obesity.

Journal: Scientific reports

Published: January 20, 2026

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Journal: International journal of molecular sciences

Published: November 12, 2025

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.

Journal: International journal of molecular sciences

Published: November 12, 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

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Journal: Neurology. Genetics

Published: October 10, 2025

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine

Published: July 17, 2025

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

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies.

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: March 24, 2025

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.

Journal: International journal of molecular sciences

Published: March 24, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.

Journal: Biomolecules

Published: September 19, 2024

Showing 1-12 of 71

Last Updated: 09/26/2026