Silvestri, Gabriella
Dettaglio
Silvestri, Gabriella
ROMA - Dipartimento di Neuroscienze
Pubblicazioni
Risultati 1 - 20 di 45 (tempo di esecuzione: 0.001 secondi).
Data di pubblicazione | Titolo | Autore(i) | File | |
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1 | 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 | - |
2 | 2009 | Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies: a case report | Modoni, Anna; Masciullo, Marcella; Spinelli, Pietro; Marra, Camillo; Tartaglione, Tommaso; Andreetta, Francesca; Tonali, Pietro Attilio; Silvestri, Gabriella | - |
3 | 2010 | Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. | Silvestri, Gabriella; Masciullo, Marcella; Santoro, Massimo; Modoni, Anna; Tonali, Pietro; Guitton, Jeremy | - |
4 | 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 | - |
5 | 2012 | Muscle MRI in female carriers of dystrophinopathy | Tasca, Giorgio; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, F; Ottaviani, Pierfrancesco; Silvestri, Gabriella; Masciullo, Marcella; Mirabella, Massimiliano; Servidei, Serenella; Ricci, Enzo | - |
6 | 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 | - |
7 | 2012 | Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion | Luigetti, Marco; Quaranta, Domenico; Conte, Amelia; Piccininni, Chiara; Lattante, Serena; Romano, Alberto; Silvestri, Gabriella; Zollino, Marcella; Sabatelli, Mario | - |
8 | 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 | - |
9 | 2011 | Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa responsive parkinsonism | Silvestri, Gabriella; Guidubaldi, Arianna; Tessa, A; Santorelli, Fm; Petracca, Martina; Bentivoglio, Anna Rita | - |
10 | 2012 | Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions | Santoro, Massimo; Masciullo, Marcella; Pietrobono, Roberta; Conte, G; Modoni, Anna; Bianchi, Maria Laura Ester; Rizzo, Valentina; Pomponi, Maria Grazia; Tasca, Giorgio; Neri, Giovanni; Silvestri, Gabriella | Open Access |
11 | 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 | - |
12 | 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 | - |
13 | 2007 | Prevalence of spinocellulart ataxia type 2 mutation among ittalian Parkinsonian patients | Modoni, Antonio; Contarino, Maria Fiorella; Bentivoglio, Anna Rita; Tabolacci, Elisabetta; Santoro, Marco; Calcagni, Maria Lucia; Tonali, Pietro Attilio; Neri, Giovanni; Silvestri, Gabriella | - |
14 | 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 | - |
15 | 2012 | Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies | Masciullo, Marcella; Modoni, Anna; Tessa, Alessandra; Santorelli, Filippo Maria; Rizzo, Valentina; D'Amico, Graziella; Laschena, Francesco; Tartaglione, Tommaso; Silvestri, Gabriella | - |
16 | 2011 | Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy | Masciullo, Marcella; Modoni, Anna; Bianchi, Mle; De Carolis, Sara; Silvestri, Gabriella | - |
17 | 2008 | A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. | Silvestri, Gabriella; Tessa, Alessandra; Masciullo, Marcella; De Leva, Maria Francesca; Denora, Ps; Santorelli Filippo, Maria; Dotti, Maria Teresa; Casali, Carlo; Melone, Mab; Federico, A; Filla, Alessandro | - |
18 | 2009 | SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD) | Iorio, Raffaele; Capone, Fioravante; Iannaccone, Elisabetta; Willison, Hugh; Modoni, Anna; Tonali, Pietro Attilio; Silvestri, Gabriella | - |
19 | 2012 | Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing | Silvestri, Gabriella; Masciullo, Marcella; Santorelli, Fms | - |
20 | 2008 | Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. | Silvestri, Gabriella; Casali, Carlo; Denora, Francesca; Santorelli, Filippo Maria; Tessa, A.; Criscuolo, C; Modoni, A; Masciullo, Marcella; Filla, Alessandro; Brice, Alexander; Durr, Alexandra | - |