Claudio Bruno
Claudio Bruno
UOSD Centro di Miologia-Istituto Giannina Gaslini-Genova, Italy
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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
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
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
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
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
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
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
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
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study
E Mazzone, G Vasco, MP Sormani, Y Torrente, A Berardinelli, S Messina, ...
Neurology 77 (3), 250-256, 2011
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
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
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
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
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
Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA
J Gamez, A Playan, AL Andreu, C Bruno, C Navarro, C Cervera, ...
Neurology 51 (1), 258-260, 1998
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
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
Lipid storage myopathies
C Bruno, S DiMauro
Current opinion in neurology 21 (5), 601-606, 2008
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, D Adele, A Carlesi, ...
PLoS One 9 (10), e108205, 2014
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
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