Darra, Francesca

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesDNA Repair Mechanisms

Cited by 224

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Knight, E. M. P., Amin, S., Bahi-Buisson, N., Benke, T. A., Cross, J. H., Demarest, S. T., Olson, H. E., Specchio, N., Fleming, T. R., Aimetti, A. A., et al. (2022) · The Lancet Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 160

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

Specchio, N., Pietrafusa, N., Doccini, V., Trivisano, M., Darra, F., Ragona, F., Cossu, A., Spolverato, S., Battaglia, D., Quintiliani, M., et al. (2020) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 56

An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program

Guerrini, R., Specchio, N., Aledo‐Serrano, Á., Pringsheim, M., Darra, F., Mayer, T., Gil‐Nagel, A., Polster, T., Zuberi, S. M., Lothe, A., et al. (2022) · Epilepsia Open

Epilepsy research and treatmentDiet and metabolism studies

Cited by 45

A registry for Dravet syndrome: The Italian experience

Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia, D., et al. (2023) · Epilepsia Open

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 21

Postural Control in Childhood: Investigating the Neurodevelopmental Gradient Hypothesis

Zoccante, L., Ciceri, M. L., Chamitava, L., Di Gennaro, G., Cazzoletti, L., Zanolin, M. E., Darra, F., & Colizzi, M. (2021) · International Journal of Environmental Research and Public Health

Autism Spectrum Disorder ResearchBalance, Gait, and Falls Prevention

Cited by 13