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, 1998 | 627 | 1998 |
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities F Galbiati, JA Engelman, D Volonte, XL Zhang, C Minetti, M Li, H Hou, ... Journal of Biological Chemistry 276 (24), 21425-21433, 2001 | 437 | 2001 |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder M Hirano, G Silvestri, DM Blake, A Lombes, C Minetti, E Bonilla, AP Hays, ... Neurology 44 (4), 721-721, 1994 | 417 | 1994 |
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both M Hirano, BR Ott, EC Raps, C Minetti, L Lennihan, NP Libbey, E Bonilla, ... Neurology 42 (11), 2082-2082, 1992 | 245 | 1992 |
Caveolin-3 directly interacts with the C-terminal tail of β-Dystroglycan identification of a central WW-like domain within caveolin family members F Sotgia, JK Lee, K Das, M Bedford, TC Petrucci, P Macioce, ... Journal of Biological Chemistry 275 (48), 38048-38058, 2000 | 224 | 2000 |
Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy JA Engelman, XL Zhang, F Galbiati, D Volonté, F Sotgia, RG Pestell, ... The American Journal of Human Genetics 63 (6), 1578-1587, 1998 | 208 | 1998 |
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue D Whitaker-Menezes, UE Martinez-Outschoorn, N Flomenberg, R Birbe, ... Cell cycle 10 (23), 4047-4064, 2011 | 195 | 2011 |
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, 2010 | 194* | 2010 |
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases SE Woodman, F Sotgia, F Galbiati, C Minetti, MP Lisanti Neurology 62 (4), 538-543, 2004 | 178 | 2004 |
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C) Retention of LGMD-1C caveolin-3 mutants within the golgi complex F Galbiati, D Volonté, C Minetti, JB Chu, MP Lisanti Journal of Biological Chemistry 274 (36), 25632-25641, 1999 | 168 | 1999 |
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 | 166 | 2000 |
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 | 161 | 2007 |
Dystrophinopathy in isolated cases of myopathy in females EP Hoffman, K Arahata, C Minetti, E Bonilla, LP Rowland, C Angelini, ... Neurology 42 (5), 967-967, 1992 | 161 | 1992 |
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ... Neurology 68 (1), 51-55, 2007 | 157 | 2007 |
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype F Galbiati, D Volonté, JB Chu, M Li, SW Fine, M Fu, J Bermudez, ... Proceedings of the National Academy of Sciences 97 (17), 9689-9694, 2000 | 152 | 2000 |
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study E Mercuri, S Messina, C Bruno, M Mora, E Pegoraro, GP Comi, A D'Amico, ... Neurology 72 (21), 1802-1809, 2009 | 140 | 2009 |
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins G Bonuccelli, F Sotgia, W Schubert, DS Park, PG Frank, SE Woodman, ... The American journal of pathology 163 (4), 1663-1675, 2003 | 130 | 2003 |
Apoptotic myonuclei in human Duchenne muscular dystrophy. M Sandri, C Minetti, M Pedemonte, U Carraro Laboratory investigation; a journal of technical methods and pathology 78 (8 …, 1998 | 129 | 1998 |
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy A Falace, F Filipello, V La Padula, N Vanni, F Madia, DDP Tonelli, ... The American Journal of Human Genetics 87 (3), 365-370, 2010 | 108 | 2010 |
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 | 104 | 2002 |