Liliana Vercelli

Turin, Italy

Last Updated: 09/26/2026

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Found 49 publications

Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.

Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.

Journal: Journal of inherited metabolic disease

Published: July 29, 2025

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal: Journal of neurology

Published: March 03, 2025

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.

Journal: Clinical genetics

Published: December 18, 2024

Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.

Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 03, 2024

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.

Journal: Clinical epigenetics

Published: June 18, 2024

Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

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

Published: April 09, 2024

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.

Journal: European journal of neurology

Published: March 27, 2023

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).

Journal: Current issues in molecular biology

Published: March 02, 2023

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Journal: Brain communications

Published: December 23, 2020

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Journal: Scientific reports

Published: August 10, 2020

A 5-year clinical follow-up study from the Italian National Registry for FSHD.

A 5-year clinical follow-up study from the Italian National Registry for FSHD.

Journal: Journal of neurology

Published: July 02, 2020

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.

Journal: Cells

Published: May 28, 2020

Showing 1-12 of 49

Last Updated: 09/26/2026