1984 …2020

Research output per year

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Research Output

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

Fassio, A., Falace, A., Esposito, A., Aprile, D., Guerrini, R. & Benfenati, F., Mar 13 2020, In : Frontiers in Cellular Neuroscience. 14, 39.

Research output: Contribution to journalReview article

Open Access
  • A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

    Mastrangelo, M., Mei, D., Cesario, S., Fioriello, F., Bernardini, L., Brinciotti, M., Guerrini, R. & Leuzzi, V., Nov 1 2019, In : Parkinsonism and Related Disorders. 68, p. 1-3 3 p.

    Research output: Contribution to journalLetter

    Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

    Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H. & 8 others, Wortmann, S., Levanon, E. Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A. & Guerrini, R., 2019, In : Brain. 142, 12, p. 3876-3891 16 p.

    Research output: Contribution to journalArticle

  • Dravet syndrome: Treatment options and management of prolonged seizures

    Cross, J. H., Caraballo, R. H., Nabbout, R., Vigevano, F., Guerrini, R. & Lagae, L., Dec 2019, In : Epilepsia. 60 Suppl 3, p. S39-S48

    Research output: Contribution to journalArticle

  • Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

    Barresi, S., Dentici, M. L., Manzoni, F., Bellacchio, E., Agolini, E., Pizzi, S., Ciolfi, A., Tarnopolsky, M., Brady, L., Garone, G., Novelli, A., Mei, D., Guerrini, R., Capuano, A., Pantaleoni, C. & Tartaglia, M., 2019, In : Pediatric Neurology. 104, p. 40-45 6 p.

    Research output: Contribution to journalArticle