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P. Broda · SciRah

Researcher profile · Semantic Scholar

P. Broda

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P. Broda — researcher profile on SciRah

h-index: 15
Works: 21
Citations: 1,904

Most-cited papers

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
C. Minetti, F. Sotgia, C. Bruno, P. Scartezzini +12 more
1998Nature Genetics610 citations
Semantic Scholar
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ
D. Whitaker-Menezes, U. Martinez-Outschoorn, N. Flomenberg, R. Birbe +10 more
2011Cell Cycle306 citations Open access
Semantic Scholar
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V. Salpietro, C. Dixon, Hui Guo, O. Bello +234 more
2019Nature Communications227 citations Open access
Semantic Scholar
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
Ilaria Carbone, C. Bruno, Federica Sotgia, M. Bado +8 more
2000Neurology129 citations
Semantic Scholar
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.
C. Minetti, M. Bado, P. Broda, F. Sotgia +8 more
2002American Journal of Pathology126 citations Open access
Semantic Scholar
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.
Silvia Repetto, M. Bado, P. Broda, G. Lucania +8 more
1999Biochemical and Biophysical Research Communications - BBRC102 citations
Semantic Scholar
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
I. Carbone, C. Bruno, F. Sotgia, M. Bado +8 more
2000Neurology100 citations
Semantic Scholar
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
R. Biancheri, A. Falace, A. Tessa, M. Pedemonte +9 more
2007Biochemical and Biophysical Research Communications - BBRC93 citations
Semantic Scholar
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.
R. Papa, F. Madia, Domenico Bartolomeo, F. Trucco +7 more
2016Pediatric Neurology45 citations
Semantic Scholar
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
R. Biancheri, E. Bertini, A. Falace, M. Pedemonte +12 more
2006Archives of Neurology35 citations Open access
Semantic Scholar
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
E. Bertini, M. Donati, P. Broda, D. Cassandrini +9 more
2005Neuropediatrics33 citations
Semantic Scholar
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies
S. Assereto, Mauro Mastrototaro, S. Stringara, E. Gazzerro +8 more
2008Cell Cycle22 citations Open access
Semantic Scholar
Distal motor neuropathy associated with novel EMILIN1 mutation.
M. Iacomino, R. Doliana, Maria Marchese, A. Capuano +20 more
2020Neurobiology of Disease16 citations Open access
Semantic Scholar
Novel TRIM32 mutation in sarcotubular myopathy
C. Panicucci, M. Traverso, S. Baratto, C. Romeo +8 more
2019Acta myologica15 citations
Semantic Scholar
Expanding the histopathological spectrum of CFL2‐related myopathies
F. Fattori, C. Fiorillo, C. Rodolico, Giorgio Tasca +13 more
2018Clinical Genetics15 citations Open access
Semantic Scholar
Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.
M. Iacomino, C. Fiorillo, A. Torella, M. Severino +8 more
2017European journal of paediatric neurology15 citations
Semantic Scholar
Clinical and molecular consequences of exon 78 deletion in DMD gene
M. Traverso, S. Assereto, S. Baratto, M. Iacomino +10 more
2018Journal of Human Genetics9 citations Open access
Semantic Scholar
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 +14 more
2021Frontiers in Neurology8 citations Open access
Semantic Scholar
Clinical and molecular consequences of exon 78 deletion in DMD gene
M. Traverso, S. Assereto, S. Baratto, M. Iacomino +10 more
2018Journal of Human Genetics0 citations Open access
Semantic Scholar
Morphological and genetic-metabolic investigations in muscular diseases
C. Minetti, C. Bruno, I. Carbone, P. Broda +7 more
20010 citations
Semantic Scholar
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari
C. Minetti, C. Bruno, I. Carbone, P. Broda +7 more
20010 citations
Semantic Scholar

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