Perna, Alessia
Perna, Alessia
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
2022-01-01 Garibaldi, M.; Nicoletti, T.; Bucci, E.; Fionda, L.; Leonardi, L.; Morino, S.; Tufano, L.; Alfieri, G.; Lauletta, A.; Merlonghi, G.; Perna, A.; Rossi, S.; Ricci, E.; Alonso Perez, J.; Tartaglione, T.; Petrucci, A.; Pennisi, E. M.; Salvetti, M.; Cutter, G.; Diaz-Manera, J.; Silvestri, G.; Antonini, G.
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience
2021-01-01 Riso, Vittorio; Rossi, Salvatore; Nicoletti, Tommaso F.; Tessa, Alessandra; Travaglini, Lorena; Zanni, Ginevra; Aiello, Chiara; Perna, Alessia; Barghigiani, Melissa; Pomponi, Maria Grazia; Santorelli, Filippo M.; Silvestri, Gabriella
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1)
2021-01-01 Miele, L.; Perna, A.; Dajko, M.; Zocco, M. A.; De Magistris, A.; Nicoletti, T. F.; Biolato, M.; Marrone, G.; Liguori, A.; Maccora, D.; Valenza, V.; Rossi, S.; Riso, V.; Di Natale, D.; Gasbarrini, A.; Grieco, A.; Silvestri, G.
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study
2021-01-01 Petrillo, Sara; Santoro, Massimo; La Rosa, Piergiorgio; Perna, Alessia; Gallo, Maria Giovanna; Bertini, Enrico Silvio; Silvestri, Gabriella; Piemonte, Fiorella
Surgical Decision-Making in Spinal Instability in Facioscapulohumeral Muscular Dystrophy Related with a Spinal Muscle Atrophy
2021-01-01 Fumo, C.; Armocida, D.; Perna, A.; Pesce, A.; Ricci, E.; Tamburrelli, F. C.; Frati, A.; Santoro, A.; Proietti, L.
Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function
2021-01-01 Coni, S.; Falconio, F. A.; Marzullo, M.; Munafo, M.; Zuliani, B.; Mosti, F.; Fatica, A.; Ianniello, Z.; Bordone, R.; Macone, A.; Agostinelli, E.; Perna, A.; Matkovic, T.; Sigrist, S.; Silvestri, G.; Canettieri, G.; Ciapponi, L.
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer
2021-01-01 Pennisi, G.; Burattini, B.; Gessi, M.; Montano, N.; Perna, A.; Silvestri, G.; Papacci, F.
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1
2020-01-01 Serra, L.; Bianchi, G.; Bruschini, M.; Giulietti, G.; Domenico, C. D.; Bonarota, S.; Petrucci, A.; Silvestri, G.; Perna, A.; Meola, G.; Caltagirone, C.; Bozzali, M.
An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients
2020-01-01 Piano, C.; Di Stasio, E.; Primiano, G.; Janiri, D.; Luigetti, M.; Frisullo, G.; Vollono, C.; Lucchini, M.; Brunetti, V.; Monforte, M.; Guglielmi, V.; Della Marca, G.; Evoli, A.; Marra, C.; Mirabella, M.; Quaranta, D.; Ricci, E.; Servidei, S.; Silvestri, G.; Bellavia, S.; Bortolani, S.; Bove, F.; Di Iorio, R.; Di Paolantonio, A.; Genovese, D.; Ialongo, T.; Lo Monaco, M. R.; Marotta, J.; Patanella, Ak.; Perna, A.; Petracca, M.; Presicce, G.; Riso, V.; Rollo, E.; Romano, A.; Romozzi, M.; Sancricca, C.; Scala, I.; Spagni, G.; Solito, M.; Tricoli, L.; Zinzi, P.; Calabresi, P.; Bentivoglio, A. R.
Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype"
2020-01-01 Rossi, Salvatore; Perna, Alessia; Modoni, Anna; Bertini, Enrico; Riso, Vittorio; Nicoletti, Tommaso Filippo; Silvestri, Gabriella
Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes
2020-01-01 Santoro, M.; Piacentini, R.; Perna, A.; Pisano, E.; Severino, A.; Modoni, A.; Grassi, C.; Silvestri, G.
Spectral domain optical coherence tomography findings in myotonic dystrophy
2020-01-01 Abed, E.; D'Amico, G.; Rossi, S.; Perna, A.; Bianchi, M. L. E.; Silvestri, G.
Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study.
2019-01-01 Rinninella, E; Silvestri, G; Cintoni, M; Perna, A; Martorana, Ge; De Lorenzo, A; Rossini, Pm; Miggiano, Gad; Gasbarrini, A; Mele, Mc
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study
2019-01-01 Rossi, S.; Della Marca, G.; Ricci, M.; Perna, A.; Nicoletti, T. F.; Brunetti, V.; Meleo, E.; Calvello, M.; Petrucci, A.; Antonini, G.; Bucci, E.; Licchelli, L.; Sancricca, C.; Massa, R.; Rastelli, E.; Botta, A.; Di Muzio, A.; Romano, S.; Garibaldi, M.; Silvestri, G.
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma
2018-01-01 Sponziello, Marialuisa; Silvestri, Gabriella; Verrienti, Antonella; Perna, Alessia; Rosignolo, Francesca; Brunelli, Chiara; Pecce, Valeria; Rossi, Esther Diana; Lombardi, Celestino Pio; Durante, Cosimo; Filetti, Sebastiano; Fadda, Guido
Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2
2018-01-01 Silvestri, Gabriella; Maccora, Daria; Perna, Alessia; Rossi, Salvatore; Valenza, Venanzio
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia
2018-01-01 Perna, A.; Masciullo, M.; Modoni, A.; Cellini, E.; Parrini, E.; Ricci, E.; Donati, A. M.; Silvestri, G.
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56
2016-01-01 Masciullo, Marcella; Tessa, A.; Perazza, S.; Santorelli, F. M.; Perna, Alessia; Silvestri, Gabriella
Case of postpartum Parsonage-Turner syndrome
2014-01-01 Nociti, Viviana; Monforte, Mauro; Perna, Alessia; Madia, Francesca; Melchiorri, G; Mirabella, Massimiliano
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2022 | Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials | Garibaldi, M.; Nicoletti, T.; Bucci, E.; Fionda, L.; Leonardi, L.; Morino, S.; Tufano, L.; Alfieri, G.; Lauletta, A.; Merlonghi, G.; Perna, A.; Rossi, S.; Ricci, E.; Alonso Perez, J.; Tartaglione, T.; Petrucci, A.; Pennisi, E. M.; Salvetti, M.; Cutter, G.; Diaz-Manera, J.; Silvestri, G.; Antonini, G. | |
| 1-gen-2021 | Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience | Riso, Vittorio; Rossi, Salvatore; Nicoletti, Tommaso F.; Tessa, Alessandra; Travaglini, Lorena; Zanni, Ginevra; Aiello, Chiara; Perna, Alessia; Barghigiani, Melissa; Pomponi, Maria Grazia; Santorelli, Filippo M.; Silvestri, Gabriella | |
| 1-gen-2021 | Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1) | Miele, L.; Perna, A.; Dajko, M.; Zocco, M. A.; De Magistris, A.; Nicoletti, T. F.; Biolato, M.; Marrone, G.; Liguori, A.; Maccora, D.; Valenza, V.; Rossi, S.; Riso, V.; Di Natale, D.; Gasbarrini, A.; Grieco, A.; Silvestri, G. | |
| 1-gen-2021 | Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study | Petrillo, Sara; Santoro, Massimo; La Rosa, Piergiorgio; Perna, Alessia; Gallo, Maria Giovanna; Bertini, Enrico Silvio; Silvestri, Gabriella; Piemonte, Fiorella | |
| 1-gen-2021 | Surgical Decision-Making in Spinal Instability in Facioscapulohumeral Muscular Dystrophy Related with a Spinal Muscle Atrophy | Fumo, C.; Armocida, D.; Perna, A.; Pesce, A.; Ricci, E.; Tamburrelli, F. C.; Frati, A.; Santoro, A.; Proietti, L. | |
| 1-gen-2021 | Translational control of polyamine metabolism by cnbp is required for drosophila locomotor function | Coni, S.; Falconio, F. A.; Marzullo, M.; Munafo, M.; Zuliani, B.; Mosti, F.; Fatica, A.; Ianniello, Z.; Bordone, R.; Macone, A.; Agostinelli, E.; Perna, A.; Matkovic, T.; Sigrist, S.; Silvestri, G.; Canettieri, G.; Ciapponi, L. | |
| 1-gen-2021 | Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer | Pennisi, G.; Burattini, B.; Gessi, M.; Montano, N.; Perna, A.; Silvestri, G.; Papacci, F. | |
| 1-gen-2020 | Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1 | Serra, L.; Bianchi, G.; Bruschini, M.; Giulietti, G.; Domenico, C. D.; Bonarota, S.; Petrucci, A.; Silvestri, G.; Perna, A.; Meola, G.; Caltagirone, C.; Bozzali, M. | |
| 1-gen-2020 | An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients | Piano, C.; Di Stasio, E.; Primiano, G.; Janiri, D.; Luigetti, M.; Frisullo, G.; Vollono, C.; Lucchini, M.; Brunetti, V.; Monforte, M.; Guglielmi, V.; Della Marca, G.; Evoli, A.; Marra, C.; Mirabella, M.; Quaranta, D.; Ricci, E.; Servidei, S.; Silvestri, G.; Bellavia, S.; Bortolani, S.; Bove, F.; Di Iorio, R.; Di Paolantonio, A.; Genovese, D.; Ialongo, T.; Lo Monaco, M. R.; Marotta, J.; Patanella, Ak.; Perna, A.; Petracca, M.; Presicce, G.; Riso, V.; Rollo, E.; Romano, A.; Romozzi, M.; Sancricca, C.; Scala, I.; Spagni, G.; Solito, M.; Tricoli, L.; Zinzi, P.; Calabresi, P.; Bentivoglio, A. R. | |
| 1-gen-2020 | Response to "Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype" | Rossi, Salvatore; Perna, Alessia; Modoni, Anna; Bertini, Enrico; Riso, Vittorio; Nicoletti, Tommaso Filippo; Silvestri, Gabriella | |
| 1-gen-2020 | Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes | Santoro, M.; Piacentini, R.; Perna, A.; Pisano, E.; Severino, A.; Modoni, A.; Grassi, C.; Silvestri, G. | |
| 1-gen-2020 | Spectral domain optical coherence tomography findings in myotonic dystrophy | Abed, E.; D'Amico, G.; Rossi, S.; Perna, A.; Bianchi, M. L. E.; Silvestri, G. | |
| 1-gen-2019 | Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study. | Rinninella, E; Silvestri, G; Cintoni, M; Perna, A; Martorana, Ge; De Lorenzo, A; Rossini, Pm; Miggiano, Gad; Gasbarrini, A; Mele, Mc | |
| 1-gen-2019 | Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study | Rossi, S.; Della Marca, G.; Ricci, M.; Perna, A.; Nicoletti, T. F.; Brunetti, V.; Meleo, E.; Calvello, M.; Petrucci, A.; Antonini, G.; Bucci, E.; Licchelli, L.; Sancricca, C.; Massa, R.; Rastelli, E.; Botta, A.; Di Muzio, A.; Romano, S.; Garibaldi, M.; Silvestri, G. | |
| 1-gen-2018 | A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma | Sponziello, Marialuisa; Silvestri, Gabriella; Verrienti, Antonella; Perna, Alessia; Rosignolo, Francesca; Brunelli, Chiara; Pecce, Valeria; Rossi, Esther Diana; Lombardi, Celestino Pio; Durante, Cosimo; Filetti, Sebastiano; Fadda, Guido | |
| 1-gen-2018 | Reader response: High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 | Silvestri, Gabriella; Maccora, Daria; Perna, Alessia; Rossi, Salvatore; Valenza, Venanzio | |
| 1-gen-2018 | Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia | Perna, A.; Masciullo, M.; Modoni, A.; Cellini, E.; Parrini, E.; Ricci, E.; Donati, A. M.; Silvestri, G. | |
| 1-gen-2016 | Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56 | Masciullo, Marcella; Tessa, A.; Perazza, S.; Santorelli, F. M.; Perna, Alessia; Silvestri, Gabriella | |
| 1-gen-2014 | Case of postpartum Parsonage-Turner syndrome | Nociti, Viviana; Monforte, Mauro; Perna, Alessia; Madia, Francesca; Melchiorri, G; Mirabella, Massimiliano |