Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

Por Angelini, Corrado, Tavian, Daniela, Missaglia, Sara
Publicado no JIMD Rep (2017)

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

Por Durdu, Murat, Missaglia, Sara, Moro, Laura, Tavian, Daniela
Publicado no BMC Med Genet (2018)

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

Por Missaglia, Sara, Tavian, Daniela, Moro, Laura, Angelini, Corrado
Publicado no Lipids Health Dis (2018)

Metabolic lipid muscle disorders: biomarkers and treatment

Por Angelini, Corrado, Pennisi, Elena, Missaglia, Sara, Tavian, Daniela
Publicado no Ther Adv Neurol Disord (2019)

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

Por Missaglia, Sara, Coleman, Rosalind A., Mordente, Alvaro, Tavian, Daniela
Publicado no Cells (2019)

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

Por Pegoraro, Valentina, Missaglia, Sara, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Publicado no Muscle Nerve (2019)

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

Por Missaglia, Sara, Pegoraro, Valentina, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Publicado no Eur J Transl Myol (2020)

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

Por Eskiocak, Ali Haydar, Missaglia, Sara, Moro, Laura, Durdu, Murat, Tavian, Daniela
Publicado no 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

Por Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Publicado no Genes Dis (2019)

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

Por Tavian, Daniela, Missaglia, Sara, Michelini, Sandro, Maltese, Paolo Enrico, Manara, Elena, Mordente, Alvaro, Bertelli, Matteo
Publicado no 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

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

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

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

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

Por Tavian, Daniela, Missaglia, Sara, Maltese, Paolo E., Michelini, Sandro, Fiorentino, Alessandro, Ricci, Maurizio, Serrani, Roberta, Walter, Michael A., Bertelli, Matteo
Publicado no Oncotarget (2016)

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

Por Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Publicado no 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

Por Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Publicado no Neuromuscul Disord (2017)

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

Por 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
Publicado no Orphanet J Rare Dis (2017)