• 3 Citations
  • 1 h-Index
20162019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Paolo Broda is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 21 Similar Profiles
Cofilin 2 Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences
Muscles Medicine & Life Sciences
Myosin Heavy Chains Medicine & Life Sciences
Genes Medicine & Life Sciences
Knockout Mice Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2016 2019

  • 3 Citations
  • 1 h-Index
  • 10 Article

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders
Mutation
Muscles
Distal Myopathies
Biopsy
Ubiquitin-Protein Ligases

Clinical and molecular consequences of exon 78 deletion in DMD gene

Traverso, M., Assereto, S., Baratto, S., Iacomino, M., Pedemonte, M., Diana, M. C., Ferretti, M., Broda, P., Minetti, C., Gazzerro, E., Madia, F., Bruno, C., Zara, F. & Fiorillo, C., Jun 2018, In : Journal of Human Genetics. 63, 6, p. 761-764 4 p.

Research output: Contribution to journalArticle

Exons
Reading Frames
Dystrophin
Genes
Phenotype
1 Citation (Scopus)

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation