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The Lancet. Neurology|July 24, 2025
The relevance of primary cilia in neurological disordersValentina Serpieri, Fulvio D'Abrusco, Enza Maria ValenteAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 3, 2022
Genotype-phenotype correlates in Joubert syndrome: A reviewSimone Gana, Valentina Serpieri, Enza Maria ValenteMolecular Biology Reports|October 5, 2019
A novel IRF2BPL truncating variant is associated with endolysosomal storageMonia Ginevrino, Roberta Battini, Sara Nuovo, et al.American Journal of Medical Genetics. Part A|February 9, 2023
Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorderSimone Gana, Valentina Serpieri, Elisa Giorgio, et al.European Journal of Clinical Investigation|May 12, 2026
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in CiliopathiesCarla Aresi, Francesca Tonelli, Concetta Mazzotta, et al.Journal of Cellular Physiology|January 23, 2019
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolateLorenza Vitale, Valentina Serpieri, Mattia Lauriola, et al.Advances in Therapy|October 24, 2020
Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' FunctionGiulio Ruberto, Vincenzo Parisi, Chiara Bertone, et al.Advances in Therapy|July 17, 2020
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted TreatmentGiulio Ruberto, Vincenzo Parisi, Chiara Bertone, et al.Developmental Medicine and Child Neurology|August 18, 2023
Visual function in children with Joubert syndromeFederica Morelli, Federico Toni, Elena Saligari, et al.Neurology. Genetics|May 18, 2026
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic InsightsDavide Politano, Simone Gana, Simona Orcesi, et al.Pageof 3