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Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2?
Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P. Di Giosaffatte N, et al. Among authors: savino e. Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. Genes (Basel). 2022. PMID: 36553625 Free PMC article.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: savino e. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.
Neuronal models of TDP-43 proteinopathy display reduced axonal translation, increased oxidative stress, and defective exocytosis.
Pisciottani A, Croci L, Lauria F, Marullo C, Savino E, Ambrosi A, Podini P, Marchioretto M, Casoni F, Cremona O, Taverna S, Quattrini A, Cioni JM, Viero G, Codazzi F, Consalez GG. Pisciottani A, et al. Among authors: savino e. Front Cell Neurosci. 2023 Nov 13;17:1253543. doi: 10.3389/fncel.2023.1253543. eCollection 2023. Front Cell Neurosci. 2023. PMID: 38026702 Free PMC article.
138 results