Claudio Bruno
Claudio Bruno
UOSD Centro di Miologia-Istituto Giannina Gaslini-Genova, Italy
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TitleCited byYear
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
6381998
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
1961999
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
1492011
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
1322010
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
1292009
Unusually high incidence of malignant pleural mesothelioma in a town of eastern Sicily: an epidemiological and environmental study
L Paoletti, D Batisti, C Bruno, M Di Paola, A Gianfagna, M Mastrantonio, ...
Archives of Environmental Health: An International Journal 55 (6), 392-398, 2000
1242000
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
1162013
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
1001998
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
982004
Myophosphorylase Deficiency (Glycogenosis Type V McArdle Disease)
S DiMauro, AL Andreu, C Bruno, GM Hadjigeorgiou
Current molecular medicine 2 (2), 189-196, 2002
832002
High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm
L Morandi, C Angelini, A Prelle, A Pini, B Grassi, G Bernardi, L Politano, ...
Neurological Sciences 27 (5), 303-311, 2006
792006
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
782013
Field investigation on rilling in the experimental Sparacia area, South Italy
C Bruno, CD Stefano, V Ferro
Earth Surface Processes and Landforms: The Journal of the British …, 2008
772008
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
R Biancheri, A Falace, A Tessa, M Pedemonte, S Scapolan, ...
Biochemical and biophysical research communications 363 (4), 1033-1037, 2007
762007
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
F Zara, R Biancheri, C Bruno, L Bordo, S Assereto, E Gazzerro, F Sotgia, ...
Nature genetics 38 (10), 1111, 2006
762006
Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
A Rossi, R Biancheri, C Bruno, M Di Rocco, A Calvi, A Pessagno, ...
American journal of neuroradiology 24 (6), 1188-1191, 2003
752003
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
742014
In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I
M D'Aurelio, F Pallotti, A Barrientos, CD Gajewski, JQ Kwong, C Bruno, ...
Journal of Biological Chemistry 276 (50), 46925-46932, 2001
732001
Caveolin-1 (−/−)-and caveolin-2 (−/−)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation
W Schubert, F Sotgia, AW Cohen, F Capozza, G Bonuccelli, C Bruno, ...
The American journal of pathology 170 (1), 316-333, 2007
712007
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
D Cassandrini, MR Cilio, M Bianchi, M Doimo, M Balestri, A Tessa, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2013
692013
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