IRIS PubliCatt
PubliCatt è il repository istituzionale ad accesso aperto dell'Università Cattolica del Sacro Cuore, dove gli utenti autorizzati afferenti all'Ateneo provvedono direttamente e autonomamente a depositare e a rendere visibili le proprie pubblicazioni, inserendo i dati descrittivi del documento stesso ("metadati", quali il titolo, autore, abstract, etc.) e, laddove possibile, il testo della pubblicazione stessa (full-text).
PubliCatt utilizza la piattaforma IRIS (Institutional Research Information System) sviluppata da CINECA.
ItalianoMissaglia, Sara
Pubblicazioni
Risultati 1 - 19 di 19 (tempo di esecuzione: 0.001 secondi).
| Data di pubblicazione | Titolo | Autore(i) | File | |
|---|---|---|---|---|
| 1 | 2015 | Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings | Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado; Moro, Laura; Tavian, Daniela | - |
| 2 | 2014 | Generating disease-specific induced pluripotent Stem Cells (iPSCs) in a Biobank facility for genetic disease modelling: the example of Neutral Lipid Storage Disease with Myopathy | Coviello, Domenico Antonio; Missaglia, Sara; Castagnetta, Mauro; Pennisi, Elena Maria; Baldo, Chiara; Mogni, Massimo; Tavian, Daniela | - |
| 3 | 2014 | Novel mutations in the PNPLA2 gene causing late one-set of neutral lipid storage disease with myopathy in an Italian family | Tavian, Daniela; Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado | - |
| 4 | 2015 | A myopathy with unusual features caused by PNPLA2 gene mutations | Pennisi, Elena Maria; Missaglia, Sara; Dimauro, Salvatore; Bernardi, Cinzia; Akman, Hasan Orhan; Tavian, Daniela | - |
| 5 | 2015 | Chanarin-Dorfman syndrome: a case report with novel mutation in ABHD5 gene | Missaglia, Sara; Gupta, Neerja; Gothwal, Sunil; Satpathy, Amit Kumar; Dipsal, Timila; Path, Sr; Hemat, Sr; Kabra, Madhilika; Tavian, Daniela | - |
| 6 | 2011 | Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample | Mandelli, L; Mazza, Marianna; Di Nicola, Marco; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Negri, Gloria; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A. | - |
| 7 | 2015 | Social stress regulation in 4-month-old infants: Contribution of maternal social engagement and infants' 5-HTTLPR genotype | Montirosso, Rosario; Provenzi, Livio; Tavian, Daniela; Morandi, Francesco; Bonanomi, Andrea; Missaglia, Sara; Tronick, Ed; Borgatti, Renato | - |
| 8 | 2014 | Familial distal myopathy due to PNPLA2 mutation | Angelini, Corrado; Tavian, Daniela; Tasca, Elisabetta; Missaglia, Sara | - |
| 9 | 2010 | Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance | Mandelli, L; Mazza, Marianna; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Di Nicola, Marco; De Ronchi, D; Negri, Gloria; Colombo, Roberto; Janiri, Luigi; Serretti, A. | - |
| 10 | 2009 | Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients | Mandelli, L; Mazza, Marianna; Martinotti, Giovanni; Di Nicola, Marco; Tavian, Daniela; Colombo, Edoardo; Missaglia, Sara; De Ronchi, D; Colombo, E; Janiri, Luigi; Serretti, A | - |
| 11 | 2010 | Further evidence supporting the association between 5HTR2C gene and bipolar disorder | Mazza, Marianna; Mandelli, L; Martinotti, Giovanni; Di Nicola, Marco; Tavian, Daniela; Negri, Gloria; Colombo, Elisa; Missaglia, Sara; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A. | - |
| 12 | 2013 | A late-onset case of neutral lipid storage disease with myopathy, dropped head syndrome, and peripheral nerve involvement | Tavian, Daniela; Missaglia, Sara; Dimauro, Salvatore; Bruno, Claudio; Pegoraro, Elena; Cenacchi, Giovanna; Coviello, Domenico; Angelini, Corrado | - |
| 13 | 2014 | Producing hiPS cells for disease modeling of NLSD-M | Missaglia, Sara; Castagnetta, Mauro; Tavian, Daniela; Pennisi, Elena Maria; Coviello, Domenico Antonio | - |
| 14 | 2011 | PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER | Mandelli, L; Mazza, Marianna; Marangoni, C; Di Nicola, Marco; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Negri, Gloria; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A. | - |
| 15 | 2014 | Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc | Coviello, Domenico Antonio; Missaglia, Sara; Castagnetta, Mauro; Pennisi, Elena Maria; Mogni, Massimo; Tavian, Daniela | - |
| 16 | 2015 | Late onset and heterogeneous clinical presentation in three affected members of a NLSDM Italian family | Tavian, Daniela; Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado | - |
| 17 | 2013 | Exploring the positive involvement of primary motor cortex in observing motor sequences with music: a pilot study with tDCS | Colombo, Barbara; Di Nuzzo, Chiara; Missaglia, Sara; Mordente, Alvaro; Antonietti, Alessandro; Casolo, Francesco; Tavian, Daniela | - |
| 18 | 2012 | Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function | Tavian, Daniela; Missaglia, Sara; Redaelli, Chiara; Pennisi, Elena; Invernici, Gloria; Wessalowsky, Ruediger; Maiwald, Robert; Arca, Marcello; Coleman, Rosalind | - |
| 19 | 2014 | Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter | Tavian, Daniela; Valadares, Eugenia; Moro, Laura; Faguntes, Eleonora; Roque, Rachel; Giardina, Bruno; Missaglia, Sara | Open Access |
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