• 29 Citations
  • 3 h-Index
20162019
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Fingerprint Dive into the research topics where Monica Traverso is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles
Brain Diseases Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Agenesis of Corpus Callosum Medicine & Life Sciences
AMPA Receptors Medicine & Life Sciences
Temporal Lobe Epilepsy Medicine & Life Sciences

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Research Output 2016 2019

  • 29 Citations
  • 3 h-Index
  • 9 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

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

Vari, M. S., Traverso, M., Bellini, T., Madia, F., Pinto, F., Minetti, C., Striano, P. & Zara, F., Aug 2017, In : Seizure. 50, p. 80-82 3 p.

Research output: Contribution to journalArticle

Temporal Lobe Epilepsy
Chromosomes, Human, Pair 12
Febrile Seizures
Partial Epilepsy
Point Mutation
11 Citations (Scopus)

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Niturad, C. E., Lev, D., Kalscheuer, V. M., Charzewska, A., Schubert, J., Lerman-Sagie, T., Kroes, H. Y., Oegema, R., Traverso, M., Specchio, N., Lassota, M., Chelly, J., Bennett-Back, O., Carmi, N., Koffler-Brill, T., Iacomino, M., Trivisano, M., Capovilla, G., Striano, P., Nawara, M. & 20 others, Rzonca, S., Fischer, U., Bienek, M., Jensen, C., Hu, H., Thiele, H., Altmüller, J., Krause, R., May, P., Becker, F., Balling, R., Biskup, S., Haas, S. A., Nürnberg, P., van Gassen, K. L. I., Lerche, H., Zara, F., Maljevic, S., Leshinsky-Silver, E. & EuroEPINOMICS Consortium, Nov 1 2017, In : Brain : a journal of neurology. 140, 11, p. 2879-2894 16 p.

Research output: Contribution to journalArticle

Brain Diseases
Epilepsy
Genes
Mutation
GABA-A Receptors