| PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia D Marmolino, M Manto, F Acquaviva, P Vergara, A Ravella, A Monticelli, ... Plos one 5 (4), e10025, 2010 | 169 | 2010 |
| Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia G Coppola, D Marmolino, D Lu, Q Wang, M Cnop, M Rai, F Acquaviva, ... Human molecular genetics 18 (13), 2452-2461, 2009 | 146 | 2009 |
| DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ... Journal of medical genetics 45 (12), 808-812, 2008 | 146 | 2008 |
| PGE2 inhibits apoptosis in human adenocarcinoma Caco-2 cell line through Ras-PI3K association and cAMP-dependent kinase A activation V Leone, A di Palma, P Ricchi, F Acquaviva, M Giannouli, AM Di Prisco, ... American Journal of Physiology-Gastrointestinal and Liver Physiology 293 (4 …, 2007 | 120 | 2007 |
| Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. S Paolacci, V Precone, F Acquaviva, P Chiurazzi, E Fulcheri, M Pinelli, ... European Review for Medical & Pharmacological Sciences 23 (13), 2019 | 80 | 2019 |
| RAI1 gene mutations: mechanisms of Smith–Magenis syndrome M Falco, S Amabile, F Acquaviva The application of clinical genetics, 85-94, 2017 | 75 | 2017 |
| Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2 F Acquaviva, I De Biase, L Nezi, G Ruggiero, F Tatangelo, C Pisano, ... Journal of cell science 118 (17), 3917-3924, 2005 | 75 | 2005 |
| Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ... The Cerebellum 7, 360-365, 2008 | 72 | 2008 |
| PPAR-γ agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the friedreich’s ataxia therapy D Marmolino, F Acquaviva, M Pinelli, A Monticelli, I Castaldo, A Filla, ... The Cerebellum 8, 98-103, 2009 | 70 | 2009 |
| Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit F Saccà, R Piro, G De Michele, F Acquaviva, A Antenora, G Carlomagno, ... Movement Disorders 26 (4), 739-742, 2011 | 55 | 2011 |
| Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF) M Pinelli, F Acquaviva, F Barbetti, E Caredda, S Cocozza, M Delvecchio, ... PLoS One 8 (11), e79933, 2013 | 50 | 2013 |
| Friedreich’s Ataxia: From the (GAA) n Repeat Mediated Silencing to New Promising Molecules for Therapy D Marmolino, F Acquaviva The Cerebellum 8, 245-259, 2009 | 50 | 2009 |
| β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus M Pinelli, M Giacchetti, F Acquaviva, S Cocozza, G Donnarumma, ... BMC medical genetics 7, 1-9, 2006 | 43 | 2006 |
| SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly P Fontana, M Grasso, F Acquaviva, E Gennaro, ML Galli, M Falco, ... Clinical genetics 92 (4), 440-443, 2017 | 39 | 2017 |
| Say‐barber‐Biesecker‐young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? F Lonardo, MS Lonardo, F Acquaviva, M Della Monica, F Scarano, ... Clinical genetics 95 (2), 253-261, 2019 | 30 | 2019 |
| First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation F Acquaviva, ME Sana, M Della Monica, M Pinelli, D Postorivo, P Fontana, ... American Journal of Medical Genetics Part A 173 (1), 231-238, 2017 | 23 | 2017 |
| Mucopolysaccharidosis type II in a female patient with a reciprocal X; 9 translocation and skewed X chromosome inactivation F Lonardo, P Di Natale, S Lualdi, F Acquaviva, C Cuoco, F Scarano, ... American Journal of Medical Genetics Part A 164 (10), 2627-2632, 2014 | 20 | 2014 |
| Fibrodysplasia ossificans progressiva: a challenging diagnosis D De Brasi, F Orlando, V Gaeta, M De Liso, F Acquaviva, L Martemucci, ... Genes 12 (8), 1187, 2021 | 19 | 2021 |
| Aspirin reduces the outcome of anticancer therapy in Meth A–bearing mice through activation of AKT-glycogen synthase kinase signaling A di Palma, G Matarese, V Leone, T Di Matola, F Acquaviva, ... Molecular cancer therapeutics 5 (5), 1318-1324, 2006 | 14 | 2006 |
| Small 4p16. 3 deletions: Three additional patients and review of the literature L Bernardini, FC Radio, F Acquaviva, C Gorgone, D Postorivo, B Torres, ... American Journal of Medical Genetics Part A 176 (11), 2501-2508, 2018 | 11 | 2018 |
