Publications by authors named "Esther Picillo"

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Landscape Analysis of , , and Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D'Amico, Esther Picillo

Biomolecules· October 2025

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Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.
Giorgia Coratti, Marika Pane, Sophia Paolucci, Luca Bello, Adele D'Amico, Esther Picillo

J Neuromuscul Dis· September 2025

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Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, Giuliana Capece, Marika Pane, Esther Picillo

Brain· May 2025

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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.
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano

Acta Myol· April 2024

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Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the Gene-A New Family Case Report.
Maria Elena Onore, Esther Picillo, Paola D'Ambrosio, Salvatore Morra, Vincenzo Nigro

Biomolecules· April 2024

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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.
Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Esther Picillo

Eur J Hum Genet· March 2024

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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Esther Picillo

Orphanet J Rare Dis· July 2023

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Alu-Mediated Insertions in the Gene: A Difficult Puzzle to Interpret Clinically.
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo

Int J Mol Sci· May 2023

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Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.
Antonella Pizza, Esther Picillo, Maria Elena Onore, Marianna Scutifero, Luigia Passamano

Acta Myol· April 2023

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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso

Genes (Basel)· January 2023

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Bi-Allelic Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Maria Elena Onore, Marco Savarese, Esther Picillo, Luigia Passamano, Vincenzo Nigro

Int J Mol Sci· December 2022

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Autosomal dominant Ullrich congenital muscular dystrophy due to a mutation in gene. A case report.
Esther Picillo, Annalaura Torella, Luigia Passamano, Vincenzo Nigro, Luisa Politano

Acta Myol· June 2022

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Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo

Front Neurol· February 2020

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Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function.
Manuela Ergoli, Massimo Venditti, Esther Picillo, Sergio Minucci, Luisa Politano

Mol Reprod Dev· January 2020

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X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Emanuela Viggiano, Agnieszka Madej-Pilarczyk, Nicola Carboni, Esther Picillo, Manuela Ergoli

Genes (Basel)· November 2019

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Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo

Genes (Basel)· October 2018

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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Esther Picillo

Orphanet J Rare Dis· September 2018

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Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Ekrem Sabir, Alexandre Seyer, Esther Picillo

J Cell Mol Med· April 2018

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Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.
Manuela Ergoli, Massimo Venditti, Raffaele Dotolo, Esther Picillo, Sergio Minucci

Acta Myol· December 2017

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Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio

J Gene Med· April 2017

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Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Emanuela Viggiano, Manuela Ergoli, Esther Picillo, Luisa Politano

Hum Genet· July 2016

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Molecular evidence of apoptotic pathway activation in semen samples with high DNA fragmentation.
Lucrezia Manente, Stefano Pecoraro, Esther Picillo, Umberto Gargiulo, Paolo Gargiulo

In Vivo· December 2015

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Novel mutations in LMNA A/C gene and associated phenotypes.
Roberta Petillo, Paola D'Ambrosio, Annalaura Torella, Antonella Taglia, Esther Picillo

Acta Myol· December 2015

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Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene.
Antonella Taglia, Roberta Petillo, Paola D'Ambrosio, Esther Picillo, Annalaura Torella

Acta Myol· May 2015

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A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy.
Simone Sampaolo, Luca Lombardi, Angelo Pascarella, Esther Picillo, Olimpia Farina

J Neuromuscul Dis· January 2015

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