| 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 | 286 | 2011 |
| 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 | 217 | 2014 |
| 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, 1-14, 2016 | 201 | 2016 |
| Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations V Leoni, L Strittmatter, G Zorzi, F Zibordi, S Dusi, B Garavaglia, P Venco, ... Molecular genetics and metabolism 105 (3), 463-471, 2012 | 140 | 2012 |
| COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ... The American Journal of Human Genetics 96 (2), 309-317, 2015 | 122 | 2015 |
| Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model D Brunetti, S Dusi, M Morbin, A Uggetti, F Moda, I D'Amato, C Giordano, ... Human molecular genetics 21 (24), 5294-5305, 2012 | 120 | 2012 |
| Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model D Brunetti, S Dusi, C Giordano, C Lamperti, M Morbin, V Fugnanesi, ... Brain 137 (1), 57-68, 2014 | 106 | 2014 |
| Coenzyme A corrects pathological defects in human neurons of PANK 2‐associated neurodegeneration DI Orellana, P Santambrogio, A Rubio, L Yekhlef, C Cancellieri, S Dusi, ... EMBO molecular medicine 8 (10), 1197-1211, 2016 | 91 | 2016 |
| Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients P Santambrogio, S Dusi, M Guaraldo, LI Rotundo, V Broccoli, ... Neurobiology of disease 81, 144-153, 2015 | 81 | 2015 |
| AND-1 fork protection function prevents fork resection and is essential for proliferation T Abe, R Kawasumi, M Giannattasio, S Dusi, Y Yoshimoto, K Miyata, ... Nature Communications 9 (1), 3091, 2018 | 54 | 2018 |
| C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation C Panteghini, G Zorzi, P Venco, S Dusi, C Reale, D Brunetti, ... Seminars in Pediatric Neurology 19 (2), 75-81, 2012 | 50 | 2012 |
| APOE epsilon‐4 allele and cytokine production in Alzheimer's disease P Olgiati, A Politis, P Malitas, D Albani, S Dusi, L Polito, S De Mauro, ... International Journal of Geriatric Psychiatry: A journal of the psychiatry …, 2010 | 42 | 2010 |
| Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes P Venco, S Dusi, L Valletta, V Tiranti Biochemical Society Transactions 42 (4), 1069-1074, 2014 | 37 | 2014 |
| Lack of association between interleukin-1 alpha rs1800587 polymorphism and Alzheimer's disease in two Independent European samples A Serretti, P Olgiati, A Politis, P Malitas, D Albani, S Dusi, L Polito, ... Journal of Alzheimer's Disease 16 (1), 181-187, 2009 | 35 | 2009 |
| Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization G Girolimetti, F Guerra, L Iommarini, I Kurelac, D Vergara, M Maffia, ... Human Molecular Genetics 26 (15), 2961-2974, 2017 | 29 | 2017 |
| Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism CC Berti, C Dallabona, M Lazzaretti, S Dusi, E Tosi, V Tiranti, P Goffrini Microbial Cell 2 (4), 126, 2015 | 26 | 2015 |
| Parental histone deposition on the replicated strands promotes error-free DNA damage tolerance and regulates drug resistance V Dolce, S Dusi, M Giannattasio, CR Joseph, M Fumasoni, D Branzei Genes & development 36 (3-4), 167-179, 2022 | 13 | 2022 |
| Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy D Albani, F Prato, C Fenoglio, S Batelli, S Dusi, S De Mauro, L Polito, ... Journal of human genetics 53 (11), 1029-1033, 2008 | 11 | 2008 |
| Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene S Marchet, F Invernizzi, F Blasevich, V Bruno, S Dusi, P Venco, C Fiorillo, ... Mitochondrion 47, 24-29, 2019 | 10 | 2019 |
| Interleukin-1α, interleukin-1β and tumor necrosis factor-α genetic variants and risk of dementia in the very old: evidence from the “Monzino 80-plus” prospective study D Albani, M Tettamanti, S Batelli, L Polito, S Dusi, E Ateri, G Forloni, ... Age 34, 519-526, 2012 | 7 | 2012 |
Barbara GaravagliaPhD Istituto Neurologico Carlo BestaVerified email at istituto-besta.it