Masciullo, Marcella

Masciullo, Marcella  

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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, A.; Masciullo, M.; Modoni, A.; Cellini, E.; Parrini, E.; Ricci, E.; Donati, A. M.; Silvestri, G.
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 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 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-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
1-gen-2013 Persistence of abnormal electrophysiological findings after carpal tunnel release Merolli, Antonio; Luigetti, Marco; Modoni, Anna; Masciullo, Marcella; Mereu, Maria Lucia; Lo Monaco, Mauro