| Neutral lipid storage diseases as cellular model to study lipid droplet function S Missaglia, RA Coleman, A Mordente, D Tavian Cells 8 (2), 187, 2019 | 79 | 2019 |
| Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function D Tavian, S Missaglia, C Redaelli, EM Pennisi, G Invernici, ... Human molecular genetics 21 (24), 5318-5328, 2012 | 62 | 2012 |
| Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients EM Pennisi, M Arca, E Bertini, C Bruno, D Cassandrini, A D’amico, ... Orphanet journal of rare diseases 12, 1-10, 2017 | 60 | 2017 |
| Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients L Mandelli, M Mazza, G Martinotti, M Di Nicola, D Tavian, E Colombo, ... Journal of affective disorders 119 (1-3), 205-209, 2009 | 53 | 2009 |
| Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings S Missaglia, E Tasca, C Angelini, L Moro, D Tavian Molecular Genetics and Metabolism 115 (2-3), 110-117, 2015 | 46 | 2015 |
| Social stress regulation in 4-month-old infants: contribution of maternal social engagement and infants'5-HTTLPR genotype R Montirosso, L Provenzi, D Tavian, F Morandi, A Bonanomi, S Missaglia, ... Early human development 91 (3), 173-179, 2015 | 46 | 2015 |
| Metabolic lipid muscle disorders: biomarkers and treatment C Angelini, E Pennisi, S Missaglia, D Tavian Therapeutic advances in neurological disorders 12, 1756286419843359, 2019 | 37 | 2019 |
| A myopathy with unusual features caused by PNPLA2 gene mutations EM Pennisi, S Missaglia, S Dimauro, C Bernardi, HO Akman, D Tavian Muscle & Nerve 51 (4), 609-613, 2015 | 36 | 2015 |
| Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations C Angelini, D Tavian, S Missaglia JIMD Reports, Volume 38, 33-40, 2018 | 34 | 2018 |
| FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function D Tavian, S Missaglia, PE Maltese, S Michelini, A Fiorentino, M Ricci, ... Oncotarget 7 (34), 54228, 2016 | 34 | 2016 |
| Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency S Missaglia, D Tavian, L Moro, C Angelini Lipids in Health and Disease 17, 1-8, 2018 | 33 | 2018 |
| 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 S Missaglia, L Maggi, M Mora, S Gibertini, F Blasevich, P Agostoni, ... Neuromuscular Disorders 27 (5), 481-486, 2017 | 31 | 2017 |
| Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity B Paolini, PE Maltese, I Del Ciondolo, D Tavian, S Missaglia, C Ciuoli, ... Genet Mol Res 15 (3), 10, 2016 | 31 | 2016 |
| Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene MB Pasanisi, S Missaglia, D Cassandrini, F Salerno, S Farina, D Andreini, ... International Journal of Cardiology 207, 165-167, 2016 | 28 | 2016 |
| ETF dehydrogenase advances in molecular genetics and impact on treatment S Missaglia, D Tavian, C Angelini Critical reviews in biochemistry and molecular biology 56 (4), 360-372, 2021 | 26 | 2021 |
| COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants R Montirosso, L Provenzi, D Tavian, S Missaglia, ME Raggi, R Borgatti Infant Behavior and Development 45, 71-82, 2016 | 23 | 2016 |
| Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter S Missaglia, ER Valadares, L Moro, EDT Faguntes, R quintão Roque, ... BMC Medical Genetics 15, 1-6, 2014 | 23 | 2014 |
| Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and … L Mandelli, M Mazza, G Martinotti, D Tavian, E Colombo, S Missaglia, ... Journal of Psychopharmacology 24 (12), 1747-1754, 2010 | 23 | 2010 |
| A late-onset case of neutral lipid storage disease with myopathy, dropped head syndrome, and peripheral nerve involvement D Tavian, S Missaglia, S DiMauro, C Bruno, E Pegoraro, G Cenacchi, ... J Genet Syndr Gene Ther 4 (198), 2, 2013 | 18 | 2013 |
| Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents M Durdu, S Missaglia, L Moro, D Tavian BMC Medical Genetics 19, 1-5, 2018 | 17 | 2018 |
