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Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up.
Baga M, Spagnoli C, Soliani L, Salerno GG, Rizzi S, Frattini D, Pisani F, Fusco C. Baga M, et al. Among authors: fusco c. Can J Neurol Sci. 2021 Mar;48(2):285-286. doi: 10.1017/cjn.2020.144. Epub 2020 Jul 10. Can J Neurol Sci. 2021. PMID: 32646530 No abstract available.
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: fusco c. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Baga M, Ivanovski I, Contrò G, Caraffi SG, Spagnoli C, Cesaroni CA, Neri A, Peluso F, Pollazzon M, Garavelli L, Fusco C. Baga M, et al. Among authors: fusco c. Mol Syndromol. 2024 Feb;15(1):63-70. doi: 10.1159/000530410. Epub 2023 Sep 8. Mol Syndromol. 2024. PMID: 38357260 Free PMC article.
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: fusco c. Neurogenetics. 2024 Jul;25(3):287-291. doi: 10.1007/s10048-024-00760-0. Epub 2024 Apr 23. Neurogenetics. 2024. PMID: 38652341 Review.
409 results