Modoni, Anna
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia
2010-01-01 Luigetti, Marco; Modoni, Anna; Renna, Rosaria; Silvestri, Gabriella; Ricci, Enzo; Montano, Nicola; Tasca, Giordano; Papacci, Manuela; Monforte, Mauro; Conte, Amelia; Pomponi, Mg; Sabatelli, Mario
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
2008-01-01 Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Fattori, F; Santoro, Massimo; Tonali, Pietro; Santorelli, Filippo Maria
Abnormal sexual behaviour during sleep.
2009-01-01 Della Marca, Giacomo; Dittoni, Serena; Frusciante, Roberto; Colicchio, S; Losurdo, Anna; Testani, E; Buccarella, Cristina; Modoni, Anna; Mazza, Salvatore; Mennuni, Gioacchino; Mariotti, Paolo; Vollono, Catello
Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy.
2011-01-01 Luigetti, Marco; Conte, Amelia; Madia, Francesca; Modoni, Anna; Montano, Nicola; Lauriola, Libero; Tasca, Giorgio; Del Grande, Alessandra; Tonali, Pietro Attilio; Sabatelli, Mario
Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience
2015-01-01 Luigetti, Marco; Servidei, Serenella; Modoni, Anna; Rossini, Paolo Maria; Sabatelli, Mario; Lo Monaco, Mauro
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.
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 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
An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene
2008-01-01 Gidaro, Teresa; Modoni, Anna; Sabatelli, Mario; Tasca, Giorgio; Broccolini, Aldobrando; Mirabella, Massimiliano
Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
2010-01-01 Ricci, Enzo; Santoro, Massimo; Masciullo, Marcella; Gidaro, Teresa; Broccolini, Aldobrando; Modoni, Anna; Tonali, Pietro Attilio; Silvestri, Gabriella
Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) alpha1S subunit (Cav1.1) pre-mRNA splicing and correlation with intracellular calcium signals in myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) myotubes.
2011-01-01 Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Grassi, Claudio; Modoni, Anna; Ricci, Enzo; Silvestri, Gabriella
An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection
2016-01-01 De Fino, Chiara; Nociti, Viviana; Modoni, Anna; Bizzarro, Alessandra; Mirabella, Massimiliano
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia
2010-01-01 Luigetti, M; Modoni, A; Renna, R; Silvestri, G; Ricci, E; Montano, N; Tasca, G; Papacci, M; Monforte, M; Conte, A; Pomponi, Mg; Sabatelli, M.
Central Nervous System involvement in Myotonic Dystrophies
2015-01-01 Silvestri, Gabriella; Modoni, Anna; Bianchi, Maria Laura Ester; Marra, Camillo
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
2017-01-01 Hasan, S.; Bove, C.; Silvestri, G.; Mantuano, E.; Modoni, A.; Veneziano, L.; Macchioni, L.; Hunter, T.; Hunter, G.; Pessia, M.; D'Adamo, M. C.
Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1.
2004-01-01 Modoni, A; Silvestri, G; Pomponi, Mg; Mangiola, F; Tonali, Pa; Marra, C.
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect
2007-01-01 Santoro, Michele Cosimo; Modoni, Anna; Sabatelli, Mario; Madia, Francesca; Piemonte, F; Tozzi, G; Ricci, Enzo; Tonali, Pietro Attilio; Silvestri, Gabriella
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study
2008-01-01 Modoni, Anna; Silvestri, Gabriella; Vita, Maria Gabriella; Quaranta, Davide; Tonali, Pietro Attilio; Marra, Camillo
Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study.
2008-01-01 Modoni, A; Silvestri, G; Vita, Mg; Quaranta, D; Tonali, Pa; Marra, C
Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study
2008-01-01 Modoni, Anna; Silvestri, Gabriella; Vita, Mg; Quaranta, Davide; Tonali, Pa; Marra, Camillo
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2010 | A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia | Luigetti, Marco; Modoni, Anna; Renna, Rosaria; Silvestri, Gabriella; Ricci, Enzo; Montano, Nicola; Tasca, Giordano; Papacci, Manuela; Monforte, Mauro; Conte, Amelia; Pomponi, Mg; Sabatelli, Mario | |
1-gen-2008 | A novel mutation in the SACS gene associated with a complicated form of spastic ataxia. | Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Fattori, F; Santoro, Massimo; Tonali, Pietro; Santorelli, Filippo Maria | |
1-gen-2009 | Abnormal sexual behaviour during sleep. | Della Marca, Giacomo; Dittoni, Serena; Frusciante, Roberto; Colicchio, S; Losurdo, Anna; Testani, E; Buccarella, Cristina; Modoni, Anna; Mazza, Salvatore; Mennuni, Gioacchino; Mariotti, Paolo; Vollono, Catello | |
1-gen-2011 | Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy. | Luigetti, Marco; Conte, Amelia; Madia, Francesca; Modoni, Anna; Montano, Nicola; Lauriola, Libero; Tasca, Giorgio; Del Grande, Alessandra; Tonali, Pietro Attilio; Sabatelli, Mario | |
1-gen-2015 | Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience | Luigetti, Marco; Servidei, Serenella; Modoni, Anna; Rossini, Paolo Maria; Sabatelli, Mario; Lo Monaco, Mauro | |
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-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-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-2008 | An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene | Gidaro, Teresa; Modoni, Anna; Sabatelli, Mario; Tasca, Giorgio; Broccolini, Aldobrando; Mirabella, Massimiliano | |
1-gen-2010 | Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2). | Ricci, Enzo; Santoro, Massimo; Masciullo, Marcella; Gidaro, Teresa; Broccolini, Aldobrando; Modoni, Anna; Tonali, Pietro Attilio; Silvestri, Gabriella | |
1-gen-2011 | Analysis of ryanodine receptor 1 (RyR1) and voltage-gated Ca2+ channel (VGCC) alpha1S subunit (Cav1.1) pre-mRNA splicing and correlation with intracellular calcium signals in myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2) myotubes. | Santoro, Massimo; Piacentini, Roberto; Masciullo, Marcella; Grassi, Claudio; Modoni, Anna; Ricci, Enzo; Silvestri, Gabriella | |
1-gen-2016 | An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection | De Fino, Chiara; Nociti, Viviana; Modoni, Anna; Bizzarro, Alessandra; Mirabella, Massimiliano | |
1-gen-2010 | A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia | Luigetti, M; Modoni, A; Renna, R; Silvestri, G; Ricci, E; Montano, N; Tasca, G; Papacci, M; Monforte, M; Conte, A; Pomponi, Mg; Sabatelli, M. | |
1-gen-2015 | Central Nervous System involvement in Myotonic Dystrophies | Silvestri, Gabriella; Modoni, Anna; Bianchi, Maria Laura Ester; Marra, Camillo | |
1-gen-2017 | A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia | Hasan, S.; Bove, C.; Silvestri, G.; Mantuano, E.; Modoni, A.; Veneziano, L.; Macchioni, L.; Hunter, T.; Hunter, G.; Pessia, M.; D'Adamo, M. C. | |
1-gen-2004 | Characterization of the Pattern of Cognitive Impairment in Myotonic Dystrophy Type 1. | Modoni, A; Silvestri, G; Pomponi, Mg; Mangiola, F; Tonali, Pa; Marra, C. | |
1-gen-2007 | Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutaton causing a double patogenetic effect | Santoro, Michele Cosimo; Modoni, Anna; Sabatelli, Mario; Madia, Francesca; Piemonte, F; Tozzi, G; Ricci, Enzo; Tonali, Pietro Attilio; Silvestri, Gabriella | |
1-gen-2008 | Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study | Modoni, Anna; Silvestri, Gabriella; Vita, Maria Gabriella; Quaranta, Davide; Tonali, Pietro Attilio; Marra, Camillo | |
1-gen-2008 | Cognitive impairment in myotonic dystrophy type 1 (DM1) : A longitudinal follow-up study. | Modoni, A; Silvestri, G; Vita, Mg; Quaranta, D; Tonali, Pa; Marra, C | |
1-gen-2008 | Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study | Modoni, Anna; Silvestri, Gabriella; Vita, Mg; Quaranta, Davide; Tonali, Pa; Marra, Camillo |