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Paolo Broda
Paolo Broda
TSLB IRCCS Istituto Giannina Gaslini
Verified email at gaslini.org - Homepage
Title
Cited by
Cited by
Year
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
7561998
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
3452011
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
2172000
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
1492002
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy
S Repetto, M Bado, P Broda, G Lucania, E Masetti, F Sotgia, I Carbone, ...
Biochemical and biophysical research communications 261 (3), 547-550, 1999
1271999
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
1122007
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, ...
Orphanet journal of rare diseases 11, 1-14, 2016
892016
Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy
R Papa, F Madia, D Bartolomeo, F Trucco, M Pedemonte, M Traverso, ...
Pediatric neurology 55, 58-63, 2016
522016
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
R Biancheri, E Bertini, A Falace, M Pedemonte, A Rossi, A D’Amico, ...
Archives of neurology 63 (10), 1491-1495, 2006
412006
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP‐2 gene mutation
E Bertini, MA Donati, P Broda, D Cassandrini, S Petrini, C Dionisi-Vici, ...
Neuropediatrics, 309-313, 2005
372005
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
S Assereto, M Mastrototaro, S Stringara, E Gazzerro, P Broda, GP Nicchia, ...
Cell Cycle 7 (14), 2199-2207, 2008
212008
Novel TRIM32 mutation in sarcotubular myopathy
C Panicucci, M Traverso, S Baratto, C Romeo, M Iacomino, C Gemelli, ...
Acta Myologica 38 (1), 8, 2019
182019
Expanding the histopathological spectrum of CFL2‐related myopathies
F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, S Pizzi, ...
Clinical Genetics 93 (6), 1234-1239, 2018
132018
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation
M Iacomino, C Fiorillo, A Torella, M Severino, P Broda, C Romano, ...
european journal of paediatric neurology 22 (3), 541-543, 2018
132018
The role of muscle biopsy in diagnostic process of infant hypotonia: from clinical classification to the genetic outcome
M Veneruso, C Fiorillo, P Broda, S Baratto, M Traverso, A Donati, ...
Frontiers in Neurology 12, 735488, 2021
92021
Clinical and molecular consequences of exon 78 deletion in DMD gene
M Traverso, S Assereto, S Baratto, M Iacomino, M Pedemonte, MC Diana, ...
Journal of Human Genetics 63 (6), 761-764, 2018
92018
Distal motor neuropathy associated with novel EMILIN1 mutation
M Iacomino, R Doliana, M Marchese, A Capuano, P Striano, P Spessotto, ...
Neurobiology of Disease 137, 104757, 2020
62020
Muscle phosphorylase deficiency in childhood. A case report
C Bruno, A Iester, M Bado, G Morreale, P Broda, C Minetti, A Cordone, ...
Minerva Pediatrica 46 (10), 459-462, 1994
31994
Congenital myopathy with protein aggregates and nemaline bodies related to CFL2 mutations
F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, ...
Neuromuscular Disorders 27, S186, 2017
22017
Expanding the histopathological spectrum of CFL2-related myopathies
F Fattori, C Fiorillo, C Rodolico, G Tasca, M Verardo, E Bellacchio, S Pizzi, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 321-322, 2019
2019
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