Carlo Minetti
Carlo Minetti
University of Genova and G.Gaslini Institute, Genova
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Cited by
Cited by
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
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
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
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
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
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
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
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
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
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
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
Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants
E Baraldi, M Lanari, P Manzoni, GA Rossi, S Vandini, A Rimini, ...
Italian journal of pediatrics 40, 1-13, 2014
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
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
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
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
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
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
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
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
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