Esther Picillo - Publications

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre.

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

Published: March 12, 2026

Intraocular pressure and corneal biomechanics in patients affected by myotonic dystrophy type 1.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: November 03, 2025

Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.

Journal: Journal of neuromuscular diseases

Published: September 18, 2025

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

Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Journal: Brain : a journal of neurology

Published: July 08, 2024

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.

Journal: Biomolecules

Published: March 28, 2024

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

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

Published: December 05, 2023

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

Journal: European journal of human genetics : EJHG

Published: August 25, 2023

Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

Journal: International journal of molecular sciences

Published: March 27, 2023

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.

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

Published: February 22, 2023

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

Journal: International journal of molecular sciences

Published: November 09, 2022

Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.

Journal: Genes

Published: November 07, 2022