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NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: riso v. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G. Lieto M, et al. Among authors: riso v. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321
The "crab sign": an imaging feature of spinocerebellar ataxia type 48.
Cocozza S, Pontillo G, De Michele G, Perillo T, Guerriero E, Ugga L, Salvatore E, Galatolo D, Riso V, Saccà F, Quarantelli M, Brunetti A. Cocozza S, et al. Among authors: riso v. Neuroradiology. 2020 Sep;62(9):1095-1103. doi: 10.1007/s00234-020-02427-7. Epub 2020 Apr 14. Neuroradiology. 2020. PMID: 32285148
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: riso v. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185
Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1).
Miele L, Perna A, Dajko M, Zocco MA, De Magistris A, Nicoletti TF, Biolato M, Marrone G, Liguori A, Maccora D, Valenza V, Rossi S, Riso V, Di Natale D, Gasbarrini A, Grieco A, Silvestri G. Miele L, et al. Among authors: riso v. Dig Liver Dis. 2021 Nov;53(11):1451-1457. doi: 10.1016/j.dld.2020.12.010. Epub 2021 Jan 9. Dig Liver Dis. 2021. PMID: 33436321
34 results