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Page 1
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: rizzi s. 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.
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, Demuth L, Cordelli DM, Biasucci G, Frattini D, Fusco C. Rizzi S, et al. Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828. Genes (Basel). 2023. PMID: 37761968 Free PMC article.
IRF2BPL gene variants: One new case.
Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. Spagnoli C, et al. Among authors: rizzi s. Am J Med Genet A. 2020 Jan;182(1):255-256. doi: 10.1002/ajmg.a.61401. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729144 No abstract available.
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Cesaroni CA, Pollazzon M, Mancini C, Rizzi S, Cappelletti C, Pizzi S, Frattini D, Spagnoli C, Caraffi SG, Zuntini R, Trimarchi G, Niceta M, Radio FC, Tartaglia M, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: rizzi s. Front Neurol. 2023 Jul 14;14:1207176. doi: 10.3389/fneur.2023.1207176. eCollection 2023. Front Neurol. 2023. PMID: 37521304 Free PMC article.
36 results