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Child Neurology Open|May 16, 2017
Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial DeletionRoberta Milone, Anna Rita Ferrari, Rosa Pasquariello, et al.
Genes|April 3, 2021
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual DisabilityRoberta Milone, Roberta Scalise, Rosa Pasquariello, et al.
Neuroimage. Clinical|September 27, 2020
Structural brain damage and visual disorders in children with cerebral palsy due to periventricular leukomalaciaFrancesca Tinelli, Andrea Guzzetta, Giulia Purpura, et al.
Epilepsia Open|June 21, 2025
Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case seriesMariapaola Schifino, Emanuele Bartolini, Stefano Pagano, et al.
Children (Basel, Switzerland)|March 28, 2026
Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical ReportsBianca Buchignani, Giada Vega, Rosa Pasquariello, et al.
International Journal of Molecular Sciences|March 13, 2024
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature ReviewStefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, et al.
Genes|June 26, 2026
Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New CasesRoberta Milone, Alessandro Orsini, Gemma Marinella, et al.
Seizure|December 8, 2022
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literatureStefania Della Vecchia, Diego Lopergolo, Rosanna Trovato, et al.
Brain & Development|June 17, 2021
Broadening the spectrum phenotype of TBCE-related neuron neurodegenerationRoberta Battini, Roberta Milone, Chiara Aiello, et al.
Frontiers in Neuroscience|August 28, 2024
Metabolite profile in hereditary spastic paraplegia analyzed using magnetic resonance spectroscopy: a cross-sectional analysis in a longitudinal studyDomenico Montanaro, Marinela Vavla, Francesca Frijia, et al.
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