Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

по Angelini, Corrado, Tavian, Daniela, Missaglia, Sara
Опубликовано в: JIMD Rep (2017)

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

по Durdu, Murat, Missaglia, Sara, Moro, Laura, Tavian, Daniela
Опубликовано в: BMC Med Genet (2018)

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

по Missaglia, Sara, Tavian, Daniela, Moro, Laura, Angelini, Corrado
Опубликовано в: Lipids Health Dis (2018)

Metabolic lipid muscle disorders: biomarkers and treatment

по Angelini, Corrado, Pennisi, Elena, Missaglia, Sara, Tavian, Daniela
Опубликовано в: Ther Adv Neurol Disord (2019)

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

по Missaglia, Sara, Coleman, Rosalind A., Mordente, Alvaro, Tavian, Daniela
Опубликовано в: Cells (2019)

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

по Pegoraro, Valentina, Missaglia, Sara, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Опубликовано в: Muscle Nerve (2019)

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

по Missaglia, Sara, Pegoraro, Valentina, Marozzo, Roberta, Tavian, Daniela, Angelini, Corrado
Опубликовано в: Eur J Transl Myol (2020)

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

по Tavian, Daniela, Durdu, Murat, Angelini, Corrado, Torre, Enza, Missaglia, Sara
Опубликовано в: Eur J Transl Myol (2021)

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

по Eskiocak, Ali Haydar, Missaglia, Sara, Moro, Laura, Durdu, Murat, Tavian, Daniela
Опубликовано в: 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

по Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Опубликовано в: Genes Dis (2019)

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

по Missaglia, Sara, Tavian, Daniela, Michelini, Sandro, Maltese, Paolo Enrico, Bonanomi, Andrea, Bertelli, Matteo
Опубликовано в: Genes (Basel) (2021)

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

по Tavian, Daniela, Missaglia, Sara, Michelini, Sandro, Maltese, Paolo Enrico, Manara, Elena, Mordente, Alvaro, Bertelli, Matteo
Опубликовано в: 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

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

CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition

по Pinton, Giulia, Wang, Zhuo, Balzano, Cecilia, Missaglia, Sara, Tavian, Daniela, Boldorini, Renzo, Fennell, Dean A., Griffin, Martin, Moro, Laura
Опубликовано в: 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

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

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

по Tavian, Daniela, Missaglia, Sara, Maltese, Paolo E., Michelini, Sandro, Fiorentino, Alessandro, Ricci, Maurizio, Serrani, Roberta, Walter, Michael A., Bertelli, Matteo
Опубликовано в: Oncotarget (2016)

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

по Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Опубликовано в: 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

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

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

по 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
Опубликовано в: Orphanet J Rare Dis (2017)