| Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy C Minetti, F Sotgia, C Bruno, P Scartezzini, P Broda, M Bado, E Masetti, ... Nature genetics 18 (4), 365-368, 1998 | 756 | 1998 |
| Respiratory complex III is required to maintain complex I in mammalian mitochondria R Acı́n-Pérez, MP Bayona-Bafaluy, P Fernández-Silva, ... Molecular cell 13 (6), 805-815, 2004 | 549 | 2004 |
| Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA AL Andreu, MG Hanna, H Reichmann, C Bruno, AS Penn, K Tanji, ... New England Journal of Medicine 341 (14), 1037-1044, 1999 | 491 | 1999 |
| Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression M Pescatori, A Broccolini, C Minetti, E Bertini, C Bruno, A D'amico, ... The FASEB Journal 21 (4), 1210-1226, 2007 | 244 | 2007 |
| North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy E Mazzone, D Martinelli, A Berardinelli, S Messina, A D’Amico, G Vasco, ... Neuromuscular Disorders 20 (11), 712-716, 2010 | 241 | 2010 |
| Caveolinopathies: from the biology of caveolin-3 to human diseases E Gazzerro, F Sotgia, C Bruno, MP Lisanti, C Minetti European journal of human genetics 18 (2), 137-145, 2010 | 235 | 2010 |
| Reliability of the North Star Ambulatory Assessment in a multicentric setting ES Mazzone, S Messina, G Vasco, M Main, M Eagle, A D’Amico, L Doglio, ... Neuromuscular Disorders 19 (7), 458-461, 2009 | 233 | 2009 |
| Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene CM Sue, K Tanji, G Hadjigeorgiou, AL Andreu, I Nishino, S Krishna, ... Neurology 52 (9), 1905-1905, 1999 | 222 | 1999 |
| A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy D Thyagarajan, S Bressman, C Bruno, S Przedborski, S Shanske, T Lynch, ... Annals of neurology 48 (5), 730-736, 2000 | 217 | 2000 |
| Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase I Carbone, C Bruno, F Sotgia, M Bado, P Broda, E Masetti, A Panella, ... Neurology 54 (6), 1373-1376, 2000 | 217 | 2000 |
| Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ... Neurology 80 (22), 2049-2054, 2013 | 204 | 2013 |
| A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV C Bruno, A Martinuzzi, Y Tang, AL Andreu, F Pallotti, E Bonilla, S Shanske, ... The American Journal of Human Genetics 65 (3), 611-620, 1999 | 175 | 1999 |
| The m. 3243A> G mitochondrial DNA mutation and related phenotypes. A matter of gender? M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, A Donati, ... Journal of neurology 261, 504-510, 2014 | 155 | 2014 |
| Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency C Minetti, M Bado, P Broda, F Sotgia, C Bruno, F Galbiati, D Volonte, ... The American journal of pathology 160 (1), 265-270, 2002 | 149 | 2002 |
| 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy ES Mazzone, M Pane, MP Sormani, R Scalise, A Berardinelli, S Messina, ... PloS one 8 (1), e52512, 2013 | 142 | 2013 |
| Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) C Bruno, OP Van Diggelen, D Cassandrini, M Gimpelev, B Giuffre, ... Neurology 63 (6), 1053-1058, 2004 | 133 | 2004 |
| Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial E Bertini, E Dessaud, E Mercuri, F Muntoni, J Kirschner, C Reid, ... The Lancet Neurology 16 (7), 513-522, 2017 | 131 | 2017 |
| Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes M Pane, ES Mazzone, S Sivo, MP Sormani, S Messina, A D′ Amico, ... PLoS One 9 (10), e108205, 2014 | 131 | 2014 |
| Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA J Gamez, A Playán, AL Andreu, C Bruno, C Navarro, C Cervera, ... Neurology 51 (1), 258-260, 1998 | 122 | 1998 |
| Glycogen branching enzyme deficiency in adult polyglucosan body disease C Bruno, S Servidei, S Shanske, G Karpati, S Carpenter, D McKee, ... Annals of Neurology: Official Journal of the American Neurological …, 1993 | 122 | 1993 |
