• 24 Citations
  • 2 h-Index
20172019
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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

  • 24 Citations
  • 2 h-Index
  • 5 Article
  • 1 Letter

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

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

2 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
Mutation
Exome
Phenotype
Spinal Muscular Atrophy
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. & 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
Epilepsy
Genes
Mutation
GABA-A Receptors