Publications by authors named "L Vercelli"

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Describing phenotypes in FSHD: an update of the comprehensive clinical evaluation form.
Giulia Ricci, Francesca Torri, Lucia Ruggiero, Liliana Vercelli, Giulio Gadaleta

Neurol Sci· September 2025

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The Role of Whole-Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo-Humeral Muscular Dystrophy Cases.
Francesca Torri, Claudia Strafella, Liliana Vercelli, Giulio Gadaleta, Barbara Risi

Clin Genet· August 2025

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Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.
T Mongini, G Gadaleta, P Alonge, L Vercelli, I Stura

J Neurol· July 2025

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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Liliana Vercelli

Clin Epigenetics· October 2024

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Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.
Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli

Acta Myol· September 2024

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