Bianchi, Maria Laura Ester
Bianchi, Maria Laura Ester
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
2016-01-01 Vanacore, N; Rastelli, E; Antonini, G; Bianchi, Maria Laura Ester; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, Anna; Novelli, Giuseppe; Pennisi, Em; Petrucci, A; Piantadosi, C; Silvestri, Gabriella; Terracciano, C; Massa, R.
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)
2016-01-01 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
Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
2016-01-01 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
2016-01-01 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
Central Nervous System involvement in Myotonic Dystrophies
2015-01-01 Silvestri, Gabriella; Modoni, Anna; Bianchi, Maria Laura Ester; Marra, Camillo
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study
2015-01-01 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)
2015-01-01 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
2014-01-01 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.
2014-01-01 Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio
Author response.
2014-01-01 Silvestri, Gabriella; Bianchi, Maria Laura Ester; Losurdo, Anna; Della Marca, Giacomo
Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.
2014-01-01 Silvestri, Gabriella; Bianchi, Maria Laura Ester; Losurdo, Anna; Della Marca, Giacomo
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes
2013-01-01 Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Bianchi, Maria Laura Ester; Modoni, Anna; Podda, Maria Vittoria; Ricci, Enzo; Silvestri, Gabriella; Grassi, Claudio
Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2
2013-01-01 Santoro, Massimo; Masciullo, Marcella; Bonvissuto, Davide; Bianchi, Maria Laura Ester; Michetti, Fabrizio; Silvestri, Gabriella
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
2013-01-01 Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo
Double site nerve lesion: ultrasound diagnosed musculocutaneous involvement in traumatic Brachial Plexus injury
2013-01-01 Bianchi, Maria Laura Ester; Padua, Luca; Granata, Giuseppe; Erra, Carmen
Fibular nerve neurotmesis secondary to knee trauma: A diagnosis requiring nerve ultrasound
2013-01-01 Bianchi, Maria Laura Ester; Granata, Giuseppe; Coraci, D; Padua, Luca
fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
2013-01-01 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
2013-01-01 Caliandro, Pietro; Silvestri, Gabriella; Padua, Luca; Bianchi, Maria Laura Ester; Simbolotti, C; Russo, G; Masciullo, Marcella; Rossini, Paolo Maria
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
2013-01-01 Masciullo, Marcella; Iannaccone, E; Bianchi, Maria Laura Ester; Santoro, Massimo; Conte, Giulia; Monforte, Mauro; Tasca, Giorgio; Laschena, Francesco; Ricci, Enzo; Silvestri, Gabriella
Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.
2013-01-01 Bianchi, Maria Laura Ester; Losurdo, Anna; Di Blasi, Chiara; Santoro, Massimo; Masciullo, Marcella; Conte, G; Valenza, Venanzio; Damiani, A; Della Marca, Giacomo; Silvestri, Gabriella
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2016 | An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. | Vanacore, N; Rastelli, E; Antonini, G; Bianchi, Maria Laura Ester; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, Anna; Novelli, Giuseppe; Pennisi, Em; Petrucci, A; Piantadosi, C; Silvestri, Gabriella; Terracciano, C; Massa, R. | |
| 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 | 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-2015 | Central Nervous System involvement in Myotonic Dystrophies | Silvestri, Gabriella; Modoni, Anna; Bianchi, Maria Laura Ester; Marra, Camillo | |
| 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 | Author response. | Silvestri, Gabriella; Bianchi, Maria Laura Ester; Losurdo, Anna; Della Marca, Giacomo | |
| 1-gen-2014 | Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. | Silvestri, Gabriella; Bianchi, Maria Laura Ester; Losurdo, Anna; Della Marca, Giacomo | |
| 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 | Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2 | Santoro, Massimo; Masciullo, Marcella; Bonvissuto, Davide; Bianchi, Maria Laura Ester; Michetti, Fabrizio; Silvestri, Gabriella | |
| 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 | Double site nerve lesion: ultrasound diagnosed musculocutaneous involvement in traumatic Brachial Plexus injury | Bianchi, Maria Laura Ester; Padua, Luca; Granata, Giuseppe; Erra, Carmen | |
| 1-gen-2013 | Fibular nerve neurotmesis secondary to knee trauma: A diagnosis requiring nerve ultrasound | Bianchi, Maria Laura Ester; Granata, Giuseppe; Coraci, D; Padua, Luca | |
| 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 | 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 | 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 |