Masciullo, Marcella
Masciullo, Marcella
Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia
2018 Perna, Alessia; Masciullo, Marcella; Modoni, Anna; Cellini, E.; Parrini, E.; Ricci, Enzo; Donati, A. M.; Silvestri, Gabriella
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia
2017 Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schã¶ls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; Van De Warrenburg, Bart; Van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas Du Montcel, Sophie; Klockgether, Thomas
Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1
2016 Serra, Laura; Mancini, Matteo; Silvestri, Gabriella; Petrucci, Antonio; Masciullo, Marcella; Spanò, Barbara; Torso, Mario; Mastropasqua, Chiara; Giacanelli, Manlio; Caltagirone, Carlo; Cercignani, Mara; Meola, Giovanni; Bozzali, Marco
Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y)
2016 Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Botta, Annalisa; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella
Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56
2016 Masciullo, Marcella; Tessa, A.; Perazza, S.; Santorelli, F. M.; Perna, Alessia; Silvestri, Gabriella
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
2016 Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Sm; Massa, R; Rastelli, E; Terracciano, C; Antonini, G; Bucci, E; Petrucci, A; Costanzi, S; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
2016 Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella
Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis
2016 Santoro, Massimo; Masciullo, Marcella; Silvestri, Gabriella; Novelli, Giuseppe; Botta, Anna
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study
2015 Zampetti, Anna; Silvestri, Gabriella; Manco, Simona; Khamis, K; Masciullo, Marcella; Bianchi, Maria Laura Ester; Damiani, A; Santoro, Massimo; Linder, D; Bewley, A; Feliciani, Claudio
Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)
2015 Santoro, Massimo; Fontana, L; Masciullo, Marcella; Bianchi, Maria Laura Ester; Rossi, Salvatore; Leoncini, Emanuele; Novelli, G; Botta, A; Silvestri, Gabriella
Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1
2014 Silvestri, Gabriella; Serra, Laura; Petrucci, Antonio; Masciullo, Marcella; Basile, B; Makovac, E; Torso, M; Spanò, B; Mastropasqua, C; Harrison, Na; Bianchi, Maria Laura Ester; Caltagirone, C; Cercignani, M; Giacanelli, M.
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.
2014 Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
2014 Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.
2014 Bianchi, Maria Laura Ester; Losurdo, Anna; Di Blasi, Chiara; Santoro, Massimo; Masciullo, Marcella; Conte, G; Valenza, Venanzio; Damiani, A; Della Marca, Giacomo; Silvestri, Gabriella
Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
2014 Tasca, G; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, F; Ottaviani, P; Leoncini, Emanuele; Boccia, Stefania; Galluzzi, G; Pelliccioni, Marco; Masciullo, Marcella; Frusciante, Roberto; Mercuri, Eugenio Maria; Ricci, Enzo
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes
2013 Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
2013 Caliandro, Pietro; Silvestri, Gabriella; Padua, Luca; Bianchi, Maria Laura Ester; Simbolotti, C; Russo, G; Masciullo, Marcella; Rossini, Paolo Maria
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
2013 Caliandro, Pietro; Silvestri, Gabriella; Padua, Luca; Bianchi, Maria Laura Ester; Simbolotti, C; Russo, G; Masciullo, Marcella; Rossini, Paolo Maria
MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases
2013 Luigetti, Marco; Pravata', Emanuele; Colosimo, Cesare; Sabatelli, Mario; Masciullo, Marcella; Capone, Fioravante; Lo Monaco, Mauro; Monforte, Mauro; Silvestri, Gabriella; Ricci, Enzo; Pacciani, Enzo; Di Lazzaro, Vincenzo
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
2013 Masciullo, Marcella; Iannaccone, E; Bianchi, Maria Laura Ester; Santoro, Massimo; Conte, Giulia; Monforte, Mauro; Tasca, Giorgio; Laschena, Francesco; Ricci, Enzo; Silvestri, Gabriella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2018 | Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia | Perna, Alessia; Masciullo, Marcella; Modoni, Anna; Cellini, E.; Parrini, E.; Ricci, Enzo; Donati, A. M.; Silvestri, Gabriella | |
| 1-gen-2017 | Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia | Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schã¶ls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; Van De Warrenburg, Bart; Van Gaalen, Judith; Kamm, Christoph; Dudesek, Ales; Kang, Jun-suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Tezenas Du Montcel, Sophie; Klockgether, Thomas | |
| 1-gen-2016 | Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1 | Serra, Laura; Mancini, Matteo; Silvestri, Gabriella; Petrucci, Antonio; Masciullo, Marcella; Spanò, Barbara; Torso, Mario; Mastropasqua, Chiara; Giacanelli, Manlio; Caltagirone, Carlo; Cercignani, Mara; Meola, Giovanni; Bozzali, Marco | |
| 1-gen-2016 | Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y) | Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Botta, Annalisa; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella | |
| 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-2016 | Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors | Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Sm; Massa, R; Rastelli, E; Terracciano, C; Antonini, G; Bucci, E; Petrucci, A; Costanzi, S; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella | |
| 1-gen-2016 | Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors | Bianchi, Maria Laura Ester; Leoncini, Emanuele; Masciullo, Marcella; Modoni, Anna; Gadalla, Shahinaz M.; Massa, Roberto; Rastelli, Emanuele; Terracciano, Chiara; Antonini, Giovanni; Bucci, Elisabetta; Petrucci, Antonio; Costanzi, Sandro; Santoro, Massimo; Boccia, Stefania; Silvestri, Gabriella | |
| 1-gen-2016 | Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis | Santoro, Massimo; Masciullo, Marcella; Silvestri, Gabriella; Novelli, Giuseppe; Botta, Anna | |
| 1-gen-2015 | Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study | Zampetti, Anna; Silvestri, Gabriella; Manco, Simona; Khamis, K; Masciullo, Marcella; Bianchi, Maria Laura Ester; Damiani, A; Santoro, Massimo; Linder, D; Bewley, A; Feliciani, Claudio | |
| 1-gen-2015 | Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1) | Santoro, Massimo; Fontana, L; Masciullo, Marcella; Bianchi, Maria Laura Ester; Rossi, Salvatore; Leoncini, Emanuele; Novelli, G; Botta, A; Silvestri, Gabriella | |
| 1-gen-2014 | Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1 | Silvestri, Gabriella; Serra, Laura; Petrucci, Antonio; Masciullo, Marcella; Basile, B; Makovac, E; Torso, M; Spanò, B; Mastropasqua, C; Harrison, Na; Bianchi, Maria Laura Ester; Caltagirone, C; Cercignani, M; Giacanelli, M. | |
| 1-gen-2014 | Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes. | Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio | |
| 1-gen-2014 | Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS | Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo | |
| 1-gen-2014 | Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2. | Bianchi, Maria Laura Ester; Losurdo, Anna; Di Blasi, Chiara; Santoro, Massimo; Masciullo, Marcella; Conte, G; Valenza, Venanzio; Damiani, A; Della Marca, Giacomo; Silvestri, Gabriella | |
| 1-gen-2014 | Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy | Tasca, G; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, F; Ottaviani, P; Leoncini, Emanuele; Boccia, Stefania; Galluzzi, G; Pelliccioni, Marco; Masciullo, Marcella; Frusciante, Roberto; Mercuri, Eugenio Maria; Ricci, Enzo | |
| 1-gen-2013 | Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes | Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio | |
| 1-gen-2013 | fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 | Caliandro, Pietro; Silvestri, Gabriella; Padua, Luca; Bianchi, Maria Laura Ester; Simbolotti, C; Russo, G; Masciullo, Marcella; Rossini, Paolo Maria | |
| 1-gen-2013 | fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1 | Caliandro, Pietro; Silvestri, Gabriella; Padua, Luca; Bianchi, Maria Laura Ester; Simbolotti, C; Russo, G; Masciullo, Marcella; Rossini, Paolo Maria | |
| 1-gen-2013 | MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases | Luigetti, Marco; Pravata', Emanuele; Colosimo, Cesare; Sabatelli, Mario; Masciullo, Marcella; Capone, Fioravante; Lo Monaco, Mauro; Monforte, Mauro; Silvestri, Gabriella; Ricci, Enzo; Pacciani, Enzo; Di Lazzaro, Vincenzo | |
| 1-gen-2013 | Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study | Masciullo, Marcella; Iannaccone, E; Bianchi, Maria Laura Ester; Santoro, Massimo; Conte, Giulia; Monforte, Mauro; Tasca, Giorgio; Laschena, Francesco; Ricci, Enzo; Silvestri, Gabriella |