Sabrina Dusi

Sabrina Dusi

FIRC Institute of Molecular Oncology - Milano / Italy
Others
AD Scientific Index ID: 4686890
person_outline Sabrina Dusi's MOST POPULAR ARTICLES
1-) Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation MB Hartig, A Iuso, T Haack, T Kmiec, E Jurkiewicz, K Heim, S Roeber, ... The American Journal of Human Genetics 89 (4), 543-550, 2011 2312011
2-) Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation S Dusi, L Valletta, TB Haack, Y Tsuchiya, P Venco, S Pasqualato, ... The American Journal of Human Genetics 94 (1), 11-22, 2014 1722014
3-) Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts E Onesto, C Colombrita, V Gumina, MO Borghi, S Dusi, A Doretti, ... Acta neuropathologica communications 4 (1), 1-14, 2016 1312016
4-) Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutationsV Leoni, L Strittmatter, G Zorzi, F Zibordi, S Dusi, B Garavaglia, P Venco, ...Molecular genetics and metabolism 105 (3), 463-471, 20121362012
5-) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyG Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ...The American Journal of Human Genetics 96 (2), 309-317, 20151152015