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Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.
Orphanet Journal of Rare Diseases|March 22, 2023
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disordersCostanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Frontiers in Pharmacology|December 11, 2023
Effect of Berberine Phytosome on reproductive, dermatologic, and metabolic characteristics in women with polycystic ovary syndrome: a controlled, randomized, multi-centric, open-label clinical trialFrancesco Di Pierro, Ruqqia Sultana, Amna Zia Eusaph, et al.
Annals of Neurology|August 19, 2023
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic ArchitectureRebekah V Harris, Karen L Oliver, Piero Perucca, et al.
Epilepsia Open|August 23, 2024
Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarityAntonella Riva, Antonietta Coppola, Francesca Bisulli, et al.
Neurology|March 31, 2026
Genetic Etiologies of Epilepsies With Status Epilepticus: Insights From the Italian Pediatric Status Epilepticus Group CohortCarla Marini, Anna Rosati, Lucia Fusco, et al.
Annals of Neurology|April 16, 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesMaria Cristina Cioclu, Ilaria Mosca, Paolo Ambrosino, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
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