Missaglia, Sara
Missaglia, Sara
MILANO - Dipartimento di Psicologia
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms
2022-01-01 Landoni, M.; Missaglia, S.; Tavian, D.; Ionio, C.; Di Blasio, P.
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition
2021-01-01 Pinton, G.; Wang, Z.; Balzano, C.; Missaglia, S.; Tavian, D.; Boldorini, R.; Fennell, D. A.; Griffin, M.; Moro, L.
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations
2021-01-01 Missaglia, S; Tavian, D; Michelini, S; Maltese, Pe; Bonanomi, A; Bertelli, M.
ETF dehydrogenase advances in molecular genetics and impact on treatment
2021-01-01 Missaglia, S; Tavian, D; Angelini, C
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
2021-01-01 Tavian, D.; Durdu, M.; Angelini, C.; Torre, E.; Missaglia, S.
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation
2020-01-01 Tavian, D; Missaglia, S; Michelini, S; Maltese, Pe; Manara, E; Mordente, A; Bertelli, M.
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
2020-01-01 Missaglia, Sara; Pegoraro, Valentina; Marozzo, Roberta; Tavian, Daniela; Angelini, Corrado
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
2019-01-01 Eskiocak, AH; Missaglia, S; Moro, L; Durdu, M; Tavian, D
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
2019-01-01 Tavian, D; Maggi, L; Mora, M; Morandi, L; Bragato, C; Missaglia, S
Metabolic lipid muscle disorders: biomarkers and treatment
2019-01-01 Angelini, C; Pennisi, E; Missaglia, S; Tavian, D
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
2019-01-01 Pegoraro, V; Missaglia, S; Marozzo, R; Tavian, D; Angelini, C
Neutral lipid storage diseases as cellular model to study lipid droplet function
2019-01-01 Missaglia, S; Coleman, Ra; Mordente, A; Tavian, D
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
2018-01-01 Missaglia, S; Tavian, D; Moro, L; Angelini, C
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
2018-01-01 Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Daniela
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM
2017-01-01 Tavian, Daniela; Missaglia, Sara; Castagnetta, M; Degiorgio, D; Pennisi, E. M; Coleman, R. A; Dell'Era, P; Mora, C; Angelini, C; Coviello, D. A.
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
2018-01-01 Angelini, C; Tavian, Daniela; Missaglia, Sara
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
2017-01-01 Missaglia, Sara; Maggi, L; Mora, M; Gibertini, S; Blasevich, F; Agostoni, P; Moro, L; Cassandrini, D; Santorelli, F. M; Gerevini, S; Tavian, Daniela
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
2017-01-01 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
The BDNFval66met polymorphism and individual differences in temperament in 4-month-old infants: A pilot study
2017-01-01 Giusti, L; Provenzi, Livio; Tavian, Daniela; Missaglia, Sara; Butti, N; Montirosso, Rosario
Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation
2016-01-01 Gupta, N.; Gothwal, S.; Satpathy, A. K.; Missaglia, Sara; Tavian, Daniela; Das, P.; Timila, D.; Kabra, M.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2022 | Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms | Landoni, M.; Missaglia, S.; Tavian, D.; Ionio, C.; Di Blasio, P. | |
| 1-gen-2021 | CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition | Pinton, G.; Wang, Z.; Balzano, C.; Missaglia, S.; Tavian, D.; Boldorini, R.; Fennell, D. A.; Griffin, M.; Moro, L. | |
| 1-gen-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. | |
| 1-gen-2021 | ETF dehydrogenase advances in molecular genetics and impact on treatment | Missaglia, S; Tavian, D; Angelini, C | |
| 1-gen-2021 | Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome | Tavian, D.; Durdu, M.; Angelini, C.; Torre, E.; Missaglia, S. | |
| 1-gen-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. | |
| 1-gen-2020 | Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients | Missaglia, Sara; Pegoraro, Valentina; Marozzo, Roberta; Tavian, Daniela; Angelini, Corrado | |
| 1-gen-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 | |
| 1-gen-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 | |
| 1-gen-2019 | Metabolic lipid muscle disorders: biomarkers and treatment | Angelini, C; Pennisi, E; Missaglia, S; Tavian, D | |
| 1-gen-2019 | MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy | Pegoraro, V; Missaglia, S; Marozzo, R; Tavian, D; Angelini, C | |
| 1-gen-2019 | Neutral lipid storage diseases as cellular model to study lipid droplet function | Missaglia, S; Coleman, Ra; Mordente, A; Tavian, D | |
| 1-gen-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 | |
| 1-gen-2018 | Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents | Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Daniela | |
| 1-gen-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. | |
| 1-gen-2018 | Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. | Angelini, C; Tavian, Daniela; Missaglia, Sara | |
| 1-gen-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 | |
| 1-gen-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 | |
| 1-gen-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 | |
| 1-gen-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. |