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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
Cesaroni CA, Contrò G, Spagnoli C, Cancelliere F, Caraffi SG, Leon A, Stefanini C, Frattini D, Rizzi S, Cavalli A, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: frattini d. Neurogenetics. 2024 Apr 23. doi: 10.1007/s10048-024-00760-0. Online ahead of print. Neurogenetics. 2024. PMID: 38652341
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A, Caraffi SG, Rizzi S, Trimarchi G, Napoli M, Frattini D, Spagnoli C, Garavelli L, Fusco C. Cavalli A, et al. Among authors: frattini d. BMC Med Genomics. 2024 Mar 5;17(1):68. doi: 10.1186/s12920-024-01840-8. BMC Med Genomics. 2024. PMID: 38443934 Free PMC article. Review.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: frattini d. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report.
Cesaroni CA, Frattini D, Lecis M, Bonvicini F, Bartolomeo D, Rizzi S, Spagnoli C, Napoli M, Pascarella R, De Fanti A, Fusco C. Cesaroni CA, et al. Among authors: frattini d. Neurohospitalist. 2024 Jan;14(1):64-68. doi: 10.1177/19418744231205626. Epub 2023 Oct 9. Neurohospitalist. 2024. PMID: 38235031
98 results