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

  • 8 Similar Profiles
Brain Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
AMPA Receptors Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences

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Research Output 2017 2019

  • 30 Citations
  • 3 h-Index
  • 5 Article
  • 1 Letter
1 Citation (Scopus)

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
Brain Diseases
Distal Myopathies
Ubiquitin-Protein Ligases

Inflammatory myopathy in a patient with collagen VI mutations

Papa, R., Fiorillo, C., Malattia, C., Minoia, F., Caorsi, R., Assereto, S., Iacomino, M., Savarese, M., Nigro, V., Bruno, C., Minetti, C. & Picco, P., Mar 4 2018, In : Scandinavian Journal of Rheumatology. 47, 2, p. 166-167 2 p.

Research output: Contribution to journalLetter

3 Citations (Scopus)

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

Iacomino, M., Fiorillo, C., Torella, A., Severino, M., Broda, P., Romano, C., Falsaperla, R., Pozzolini, G., Minetti, C., Striano, P., Nigro, V. & Zara, F., May 1 2018, In : European Journal of Paediatric Neurology. 22, 3, p. 541-543 3 p.

Research output: Contribution to journalArticle

Motor Neurons
Spinal Muscular Atrophy
13 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. & 19 others, Rzoca, 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., Nov 1 2017, In : Brain. 140, 11, p. 2879-2894 16 p.

Research output: Contribution to journalArticle

Brain Diseases
GABA-A Receptors