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Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Quatrana A, Morini E, Tiano F, Vancheri C, Panarello L, Romano S, Marcotulli C, Casali C, Mariotti C, Mongelli A, Fichera M, Rufini A, Condò I, Novelli G, Testi R, Amati F, Malisan F. Quatrana A, et al. Among authors: romano s. Hum Mol Genet. 2022 Jun 22;31(12):2010-2022. doi: 10.1093/hmg/ddac005. Hum Mol Genet. 2022. PMID: 35015850
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial.
Romano S, Coarelli G, Marcotulli C, Leonardi L, Piccolo F, Spadaro M, Frontali M, Ferraldeschi M, Vulpiani MC, Ponzelli F, Salvetti M, Orzi F, Petrucci A, Vanacore N, Casali C, Ristori G. Romano S, et al. Lancet Neurol. 2015 Oct;14(10):985-91. doi: 10.1016/S1474-4422(15)00201-X. Epub 2015 Aug 25. Lancet Neurol. 2015. PMID: 26321318 Clinical Trial.
Analyzing the Effects of a G137V Mutation in the FXN Gene.
Faggianelli N, Puglisi R, Veneziano L, Romano S, Frontali M, Vannocci T, Fortuni S, Testi R, Pastore A. Faggianelli N, et al. Among authors: romano s. Front Mol Neurosci. 2015 Nov 25;8:66. doi: 10.3389/fnmol.2015.00066. eCollection 2015. Front Mol Neurosci. 2015. PMID: 26635519 Free PMC article.
Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.
Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Longobardi A, Romano S, Ristori G, Santorelli FM, Pierelli F, Casali C. Leonardi L, et al. Among authors: romano s. Neuroepidemiology. 2016;46(4):268. doi: 10.1159/000444642. Epub 2016 Mar 19. Neuroepidemiology. 2016. PMID: 26991440 Free article. No abstract available.
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, Fortuni S, Serio D, Quatrana A, Luffarelli R, Benini M, Alfedi G, Panarello L, Rufini A, Toschi N, Frontali M, Romano S, Marcotulli C, Casali C, Gioiosa S, Mariotti C, Mongelli A, Fichera M, Condò I, Novelli G, Testi R, Malisan F. Tiano F, et al. Among authors: romano s. Hum Mol Genet. 2020 Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306. Hum Mol Genet. 2020. PMID: 31943004
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
Romano S, Bacigalupo I, Marcotulli C, Cioffi E, Bertini ES, Vasco G, Perna A, Petrucci A, Massa R, Frezza E, Romano C, Salvetti M, Ristori G, Silvestri G, Vanacore N, Casali C. Romano S, et al. Among authors: romano c. Neuroepidemiology. 2022;56(3):212-218. doi: 10.1159/000525159. Epub 2022 May 30. Neuroepidemiology. 2022. PMID: 35636410
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: romano s. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
1,284 results