Modoni, Anna

Modoni, Anna  

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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