PICILLO, ESTHER
PICILLO, ESTHER
Dipartimento di Medicina Sperimentale
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
2024 Picillo, E.; Onore, M. E.; Passamano, L.; Nigro, V.; Politano, L.
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically
2023 Torella, Annalaura; Budillon, Alberto; Zanobio, Mariateresa; DEL VECCHIO BLANCO, Francesca; Picillo, Esther; Politano, Luisa; Nigro, Vincenzo; Piluso, Giulio
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report
2022 Picillo, Esther; Torella, Annalaura; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
2022 Onore, Maria Elena; Savarese, Marco; Picillo, Esther; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
2024 Traverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
2023 Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Neri, Marcella; Farnè, Marianna; Giannini, Fabio; Malandrini, Alessandro; Volpi, Nila; Lopergolo, Diego; Silani, Vincenzo; Ticozzi, Nicola; Verde, Federico; Pareyson, Davide; Fenu, Silvia; Bonanno, Silvia; Nigro, Vincenzo; Peduto, Cristina; D'Ambrosio, Paola; Zeuli, Roberta; Zanobio, Mariateresa; Picillo, Esther; Servidei, Serenella; Primiano, Guido; Sancricca, Cristina; Sciacco, Monica; Brusa, Roberta; Filosto, Massimiliano; Cotti Piccinelli, Stefano; Pegoraro, Elena; Mongini, Tiziana; Solero, Luca; Gadaleta, Giulio; Brusa, Chiara; Minetti, Carlo; Bruno, Claudio; Panicucci, Chiara; Sansone, Valeria A; Lunetta, Christian; Zanolini, Alice; Toscano, Antonio; Pugliese, Alessia; Nicocia, Giulia; Bertini, Enrico; Catteruccia, Michela; Diodato, Daria; Atalaia, Antonio; Evangelista, Teresinha; Siciliano, Gabriele; Ferlini, Alessandra
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
2023 Viggiano, Emanuela; Picillo, Esther; Passamano, Luigia; Onore, Maria Elena; Piluso, Giulio; Scutifero, Marianna; Torella, Annalaura; Nigro, Vincenzo; Politano, Luisa
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
2023 Pizza, Antonella; Picillo, Esther; Onore, Maria Elena; Scutifero, Marianna; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | 1-gen-2024 | Picillo, E.; Onore, M. E.; Passamano, L.; Nigro, V.; Politano, L. | |
| Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically | 1-gen-2023 | Torella, Annalaura; Budillon, Alberto; Zanobio, Mariateresa; DEL VECCHIO BLANCO, Francesca; Picillo, Esther; Politano, Luisa; Nigro, Vincenzo; Piluso, Giulio | |
| Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report | 1-gen-2022 | Picillo, Esther; Torella, Annalaura; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa | |
| Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function | 1-gen-2022 | Onore, Maria Elena; Savarese, Marco; Picillo, Esther; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa | |
| DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia | 1-gen-2024 | Traverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello | |
| Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience | 1-gen-2023 | Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Neri, Marcella; Farnè, Marianna; Giannini, Fabio; Malandrini, Alessandro; Volpi, Nila; Lopergolo, Diego; Silani, Vincenzo; Ticozzi, Nicola; Verde, Federico; Pareyson, Davide; Fenu, Silvia; Bonanno, Silvia; Nigro, Vincenzo; Peduto, Cristina; D'Ambrosio, Paola; Zeuli, Roberta; Zanobio, Mariateresa; Picillo, Esther; Servidei, Serenella; Primiano, Guido; Sancricca, Cristina; Sciacco, Monica; Brusa, Roberta; Filosto, Massimiliano; Cotti Piccinelli, Stefano; Pegoraro, Elena; Mongini, Tiziana; Solero, Luca; Gadaleta, Giulio; Brusa, Chiara; Minetti, Carlo; Bruno, Claudio; Panicucci, Chiara; Sansone, Valeria A; Lunetta, Christian; Zanolini, Alice; Toscano, Antonio; Pugliese, Alessia; Nicocia, Giulia; Bertini, Enrico; Catteruccia, Michela; Diodato, Daria; Atalaia, Antonio; Evangelista, Teresinha; Siciliano, Gabriele; Ferlini, Alessandra | |
| Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy | 1-gen-2023 | Viggiano, Emanuela; Picillo, Esther; Passamano, Luigia; Onore, Maria Elena; Piluso, Giulio; Scutifero, Marianna; Torella, Annalaura; Nigro, Vincenzo; Politano, Luisa | |
| Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature | 1-gen-2023 | Pizza, Antonella; Picillo, Esther; Onore, Maria Elena; Scutifero, Marianna; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa |