ONORE, MARIA ELENA
ONORE, MARIA ELENA
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.
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
2022 Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants
2021 Brunetti-Pierri, R.; Karali, M.; Testa, F.; Cappuccio, G.; Onore, M. E.; Romano, F.; De Rosa, G.; Tedeschi, E.; Brunetti-Pierri, N.; Banfi, S.; Simonelli, F.
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
2021 Savarese, Marco; Vihola, Anna; Jokela, Manu E; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne
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
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
2021 Zacchia, Miriam; Blanco, Francesca Del Vecchio; Torella, Annalaura; Raucci, Raffaele; Blasio, Giancarlo; Onore, Maria Elena; Marchese, Emanuela; Trepiccione, Francesco; Vitagliano, Caterina; Iorio, Valentina Di; Perna, Alessandra; Simonelli, Francesca; Nigro, Vincenzo; Capasso, Giovambattista; Viggiano, Davide
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. | |
| 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 | |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | 1-gen-2022 | Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro | |
| Mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants | 1-gen-2021 | Brunetti-Pierri, R.; Karali, M.; Testa, F.; Cappuccio, G.; Onore, M. E.; Romano, F.; De Rosa, G.; Tedeschi, E.; Brunetti-Pierri, N.; Banfi, S.; Simonelli, F. | |
| Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness | 1-gen-2021 | Savarese, Marco; Vihola, Anna; Jokela, Manu E; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne | |
| 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 | |
| Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients | 1-gen-2021 | Zacchia, Miriam; Blanco, Francesca Del Vecchio; Torella, Annalaura; Raucci, Raffaele; Blasio, Giancarlo; Onore, Maria Elena; Marchese, Emanuela; Trepiccione, Francesco; Vitagliano, Caterina; Iorio, Valentina Di; Perna, Alessandra; Simonelli, Francesca; Nigro, Vincenzo; Capasso, Giovambattista; Viggiano, Davide | |
| 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 |