Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

af Angelini, Corrado, Tavian, Daniela, Missaglia, Sara
Udgivet i JIMD Rep (2017)

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

af Durdu, Murat, Missaglia, Sara, Moro, Laura, Tavian, Daniela
Udgivet i BMC Med Genet (2018)

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

af Missaglia, Sara, Tavian, Daniela, Moro, Laura, Angelini, Corrado
Udgivet i Lipids Health Dis (2018)

Metabolic lipid muscle disorders: biomarkers and treatment

af Angelini, Corrado, Pennisi, Elena, Missaglia, Sara, Tavian, Daniela
Udgivet i Ther Adv Neurol Disord (2019)

Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

af Missaglia, Sara, Coleman, Rosalind A., Mordente, Alvaro, Tavian, Daniela
Udgivet i Cells (2019)

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

af Pegoraro, Valentina, Missaglia, Sara, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Udgivet i Muscle Nerve (2019)

Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

af Missaglia, Sara, Pegoraro, Valentina, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Udgivet i Eur J Transl Myol (2020)

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

af Tavian, Daniela, Durdu, Murat, Angelini, Corrado, Torre, Enza, Missaglia, Sara
Udgivet i Eur J Transl Myol (2021)

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

af Eskiocak, Ali Haydar, Missaglia, Sara, Moro, Laura, Durdu, Murat, Tavian, Daniela
Udgivet i Lipids Health Dis (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

af Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Udgivet i Genes Dis (2019)

Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

af Missaglia, Sara, Tavian, Daniela, Michelini, Sandro, Maltese, Paolo Enrico, Bonanomi, Andrea, Bertelli, Matteo
Udgivet i Genes (Basel) (2021)

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

af Tavian, Daniela, Missaglia, Sara, Michelini, Sandro, Maltese, Paolo Enrico, Manara, Elena, Mordente, Alvaro, Bertelli, Matteo
Udgivet i Int J Mol Sci (2020)

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter

af Missaglia, Sara, Valadares, Eugenia Ribeiro, Moro, Laura, Faguntes, Eleonora Druve Tavares, quintão Roque, Raquel, Giardina, Bruno, Tavian, Daniela
Udgivet 2014

CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition

af Pinton, Giulia, Wang, Zhuo, Balzano, Cecilia, Missaglia, Sara, Tavian, Daniela, Boldorini, Renzo, Fennell, Dean A., Griffin, Martin, Moro, Laura
Udgivet i Front Oncol (2021)

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

af Tavian, Daniela, Missaglia, Sara, Redaelli, Chiara, Pennisi, Elena M., Invernici, Gloria, Wessalowski, Ruediger, Maiwald, Robert, Arca, Marcello, Coleman, Rosalind A.
Udgivet 2012

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function

af Tavian, Daniela, Missaglia, Sara, Maltese, Paolo E., Michelini, Sandro, Fiorentino, Alessandro, Ricci, Maurizio, Serrani, Roberta, Walter, Michael A., Bertelli, Matteo
Udgivet i Oncotarget (2016)

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

af Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Udgivet i Int J Cardiol (2016)

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

af Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Udgivet i Neuromuscul Disord (2017)

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

af Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D’amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado
Udgivet i Orphanet J Rare Dis (2017)