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Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Among authors: cicaloni v. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga O, Cicaloni V, Bernini A, Zatkova A, Santucci A. Spiga O, et al. Among authors: cicaloni v. BMC Med Inform Decis Mak. 2017 Apr 14;17(1):42. doi: 10.1186/s12911-017-0438-0. BMC Med Inform Decis Mak. 2017. PMID: 28410607 Free PMC article.
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. Spiga O, et al. Among authors: cicaloni v. Comput Biol Med. 2018 Dec 1;103:1-7. doi: 10.1016/j.compbiomed.2018.10.002. Epub 2018 Oct 5. Comput Biol Med. 2018. PMID: 30316064
Structural investigation of Rett-inducing MeCP2 mutations.
Spiga O, Gardini S, Rossi N, Cicaloni V, Pettini F, Niccolai N, Santucci A. Spiga O, et al. Among authors: cicaloni v. Genes Dis. 2018 Oct 5;6(1):31-34. doi: 10.1016/j.gendis.2018.09.005. eCollection 2019 Mar. Genes Dis. 2018. PMID: 30906830 Free PMC article.
Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.
Cicaloni V, Spiga O, Dimitri GM, Maiocchi R, Millucci L, Giustarini D, Bernardini G, Bernini A, Marzocchi B, Braconi D, Santucci A. Cicaloni V, et al. FASEB J. 2019 Nov;33(11):12696-12703. doi: 10.1096/fj.201901529R. Epub 2019 Aug 28. FASEB J. 2019. PMID: 31462106 Free PMC article.
Our general aim is to integrate the data of apparently heterogeneous patients with AKUAKU by using specific bioinformatics tools, in order to identify pivotal mechanisms involved in AKU for a preventive, predictive, and personalized medicine approach to AKU.-Cicaloni, V …
Our general aim is to integrate the data of apparently heterogeneous patients with AKUAKU by using specific bioinformatics tools, in order t …
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
Spiga O, Cicaloni V, Fiorini C, Trezza A, Visibelli A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Braconi D, Prischi F, Santucci A. Spiga O, et al. Among authors: cicaloni v. Orphanet J Rare Dis. 2020 Feb 12;15(1):46. doi: 10.1186/s13023-020-1305-0. Orphanet J Rare Dis. 2020. PMID: 32050984 Free PMC article.
Proteomic profiling reveals mitochondrial alterations in Rett syndrome.
Cicaloni V, Pecorelli A, Tinti L, Rossi M, Benedusi M, Cervellati C, Spiga O, Santucci A, Hayek J, Salvini L, Tinti C, Valacchi G. Cicaloni V, et al. Free Radic Biol Med. 2020 Aug 1;155:37-48. doi: 10.1016/j.freeradbiomed.2020.05.014. Epub 2020 May 20. Free Radic Biol Med. 2020. PMID: 32445864
AKUImg: A database of cartilage images of Alkaptonuria patients.
Rossi A, Giacomini G, Cicaloni V, Galderisi S, Milella MS, Bernini A, Millucci L, Spiga O, Bianchini M, Santucci A. Rossi A, et al. Among authors: cicaloni v. Comput Biol Med. 2020 Jul;122:103863. doi: 10.1016/j.compbiomed.2020.103863. Epub 2020 Jun 18. Comput Biol Med. 2020. PMID: 32658739
26 results