Missaglia, Sara
Missaglia, Sara
MILANO - Dipartimento di Psicologia
Salivary and serum irisin in healthy adults before and after exercise
2023 Missaglia, Sara; Tommasini, Ester; Vago, Paola; Pecci, Claudio; Galvani, Christel; Silvestrini, Andrea; Mordente, Alvaro; Tavian, Daniela
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
2022 Elsayed, S. M.; Torre, E.; Tavian, D.; Moro, L.; Angelini, C.; Abdel Ghaffar, T. Y.; Zalata, K.; Fahmy, E. E.; Missaglia, S.
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms
2022 Landoni, M.; Missaglia, S.; Tavian, D.; Ionio, C.; Di Blasio, P.
Neutral lipid storage disease with myopathy: A 10-year follow-up case report
2022 Missaglia, Sara; Tavian, Daniela; Angelini, Corrado
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition
2021 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 Missaglia, S; Tavian, D; Michelini, S; Maltese, Pe; Bonanomi, A; Bertelli, M.
ETF dehydrogenase advances in molecular genetics and impact on treatment
2021 Missaglia, S; Tavian, D; Angelini, C
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
2021 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 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 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 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 Tavian, D; Maggi, L; Mora, M; Morandi, L; Bragato, C; Missaglia, S
Metabolic lipid muscle disorders: biomarkers and treatment
2019 Angelini, C; Pennisi, E; Missaglia, S; Tavian, D
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
2019 Pegoraro, V; Missaglia, S; Marozzo, R; Tavian, D; Angelini, C
Neutral lipid storage diseases as cellular model to study lipid droplet function
2019 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 Missaglia, S; Tavian, D; Moro, L; Angelini, C
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents
2018 Durdu, Murat; Missaglia, Sara; Moro, Laura; Tavian, Daniela
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM
2017 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 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 Missaglia, Sara; Maggi, L; Mora, M; Gibertini, S; Blasevich, F; Agostoni, P; Moro, L; Cassandrini, D; Santorelli, F. M; Gerevini, S; Tavian, Daniela