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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: borgatti r. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Among authors: borgatti r. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Politano D, D'Abrusco F, Pasca L, Ferraro F, Gana S, Garau J, Zanaboni MP, Rognone E, Pichiecchio A, Borgatti R, Valente EM, De Giorgis V, Romaniello R. Politano D, et al. Among authors: borgatti r. Am J Med Genet A. 2024 Jun;194(6):e63555. doi: 10.1002/ajmg.a.63555. Epub 2024 Feb 7. Am J Med Genet A. 2024. PMID: 38326731 Review.
Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.
Carrara A, Mangiarotti C, Pasca L, Politano D, Abrusco FD', Barbero VC, Carpani A, Borgatti R, Pichiecchio A, Valente EM, Romaniello R. Carrara A, et al. Among authors: borgatti r. Cerebellum. 2024 Aug;23(4):1736-1740. doi: 10.1007/s12311-024-01661-6. Epub 2024 Feb 9. Cerebellum. 2024. PMID: 38334877 Free PMC article.
Pairing transcutaneous vagus nerve stimulation with an intensive bimanual training in children and adolescents with cerebral palsy: study protocol of a randomized sham-controlled trial.
Oldrati V, Gasparroni V, Michelutti A, Ciricugno A, Borgatti R, Orcesi S, Fazzi E, Morandi A, Galli J, Piccinini L, Maghini C, Arioli M, Cattaneo Z, Urgesi C, Finisguerra A. Oldrati V, et al. Among authors: borgatti r. Front Neurol. 2024 Aug 16;15:1441128. doi: 10.3389/fneur.2024.1441128. eCollection 2024. Front Neurol. 2024. PMID: 39220734 Free PMC article.
303 results