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.

Missaglia, Sara

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Dettaglio

	
			Nome completo
		
			Missaglia, Sara 	  	
			
			Afferenza
		
			MILANO - Dipartimento di Psicologia 	  	
			
			Pagina Personale Docente UC
		
Accedi alla pagina personale del docente sul sito dell'Ateneo

Pubblicazioni

Risultati 1 - 20 di 42 (tempo di esecuzione: 0.0 secondi).

	Data di pubblicazione	Titolo	Autore(i)	File
1	2021	Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations	Missaglia, S; Tavian, D; Michelini, S; Maltese, Pe; Bonanomi, A; Bertelli, M.	Open Access
2	2021	ETF dehydrogenase advances in molecular genetics and impact on treatment	Missaglia, S; Tavian, D; Angelini, C	-
3	2020	Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation	Tavian, D; Missaglia, S; Michelini, S; Maltese, Pe; Manara, E; Mordente, A; Bertelli, M.	Open Access
4	2021	Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome	Tavian, D.; Durdu, M.; Angelini, C.; Torre, E.; Missaglia, S.	Open Access
5	2020	Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients	Missaglia, Sara; Pegoraro, Valentina; Marozzo, Roberta; Tavian, Daniela; Angelini, Corrado	-
6	2019	A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy	Tavian, D; Maggi, L; Mora, M; Morandi, L; Bragato, C; Missaglia, S	Open Access
7	2019	A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings	Eskiocak, AH; Missaglia, S; Moro, L; Durdu, M; Tavian, D	-
8	2019	MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy	Pegoraro, V; Missaglia, S; Marozzo, R; Tavian, D; Angelini, C	Open Access
9	2019	Metabolic lipid muscle disorders: biomarkers and treatment	Angelini, C; Pennisi, E; Missaglia, S; Tavian, D	-
10	2019	Neutral lipid storage diseases as cellular model to study lipid droplet function	Missaglia, S; Coleman, Ra; Mordente, A; Tavian, D	Open Access
11	2018	Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency	Missaglia, S; Tavian, D; Moro, L; Angelini, C	-
12	2018	Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents	Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Daniela	Open Access
13	2018	Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.	Angelini, C; Tavian, Daniela; Missaglia, Sara	-
14	2017	Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM	Tavian, Daniela; Missaglia, Sara; Castagnetta, M; Degiorgio, D; Pennisi, E. M; Coleman, R. A; Dell'Era, P; Mora, C; Angelini, C; Coviello, D. A.	-
15	2017	Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement	Missaglia, Sara; Maggi, L; Mora, M; Gibertini, S; Blasevich, F; Agostoni, P; Moro, L; Cassandrini, D; Santorelli, F. M; Gerevini, S; Tavian, Daniela	-
16	2017	Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients	Pennisi, E. M; Arca, M; Bertini, E; Bruno, C; Cassandrini, D; D'Amico, A; Garibaldi, M; Gragnani, F; Maggi, L; Massa, R; Missaglia, Sara; Morandi, L; Musumeci, O; Pegoraro, E; Rastelli, E; Santorelli, F. M; Tasca, E; Tavian, Daniela; Toscano, A; Angelini, C; Italian, NLSD Group	Open Access
17	2017	The BDNFval66met polymorphism and individual differences in temperament in 4-month-old infants: A pilot study	Giusti, L; Provenzi, Livio; Tavian, Daniela; Missaglia, Sara; Butti, N; Montirosso, Rosario	-
18	2016	Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation	Gupta, N.; Gothwal, S.; Satpathy, A. K.; Missaglia, Sara; Tavian, Daniela; Das, P.; Timila, D.; Kabra, M.	-
19	2016	COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants	Montirosso, Rosario; Provenzi, Livio; Tavian, Daniela; Missaglia, Sara; Raggi, M. E; Borgatti, Renato	-
20	2016	FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function	Tavian, Daniela; Missaglia, Sara; Maltese, Pe; Michelini, S; Fiorentino, A; Ricci, M; Serrani, R; Walter, Ma; Bertelli, M.	-