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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.

  • 24 Similar Profiles
Mutation Medicine & Life Sciences
Cofilin 2 Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences
Muscles Medicine & Life Sciences
Myosin Heavy Chains Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 2016 2020

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access
Complementary RNA
Mutation
Zebrafish
Sensation Disorders
Exome

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

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