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

Intracranial Hypotension Medicine & Life Sciences
Headache Medicine & Life Sciences
Magnetic Resonance Imaging Medicine & Life Sciences
Mutation Medicine & Life Sciences
Pediatrics Medicine & Life Sciences
Aicardi Syndrome Medicine & Life Sciences
Pseudotumor Cerebri Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences

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

Research Output 1994 2019

  • 2394 Citations
  • 28 h-Index
  • 121 Article
  • 1 Chapter
  • 1 Letter
  • 1 Short survey
3 Citations (Scopus)

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

Research output: Contribution to journalArticle

Pediatrics
Mutation
Megalencephaly
Vascular Malformations
Brain

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

Canafoglia, L., Castellotti, B., Ragona, F., Freri, E., Granata, T., Chiapparini, L., Gellera, C., Scaioli, V., Franceschetti, S. & DiFrancesco, J. C., Feb 1 2019, In : Seizure. 65, p. 106-108 3 p.

Research output: Contribution to journalArticle

Open Access
Optic Nerve Glioma
Neurofibromatosis 1
Mutation
Serine
Cysteine

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

Tonduti, D., Izzo, G., D'Arrigo, S., Riva, D., Moroni, I., Zorzi, G., Cavallera, V., Pichiecchio, A., Uggetti, C., Veggiotti, P., Orcesi, S., Chiapparini, L. & Parazzini, C., Feb 25 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 489-94 6 p.

Research output: Contribution to journalArticle

Aicardi Syndrome
Magnetic resonance imaging
Monitoring
Chemical activation
Leukoencephalopathies