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Page 1
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Mantuano E, et al. Among authors: romano s. J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2. J Neurol Sci. 2010. PMID: 20129625
Impaired vasoreactivity in mildly disabled CADASIL patients.
Campolo J, De Maria R, Frontali M, Taroni F, Inzitari D, Federico A, Romano S, Puca E, Mariotti C, Tomasello C, Pantoni L, Pescini F, Dotti MT, Stromillo ML, De Stefano N, Tavani A, Parodi O. Campolo J, et al. Among authors: romano s. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):268-74. doi: 10.1136/jnnp-2011-300080. Epub 2011 Nov 9. J Neurol Neurosurg Psychiatry. 2012. PMID: 22072702
Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.
De Maria R, Campolo J, Frontali M, Taroni F, Federico A, Inzitari D, Tavani A, Romano S, Puca E, Orzi F, Francia A, Mariotti C, Tomasello C, Dotti MT, Stromillo ML, Pantoni L, Pescini F, Valenti R, Pelucchi C, Parolini M, Parodi O; CADASIL Study Investigators. De Maria R, et al. Among authors: romano s. Stroke. 2014 Oct;45(10):2959-66. doi: 10.1161/STROKEAHA.114.005937. Epub 2014 Sep 2. Stroke. 2014. PMID: 25184356 Clinical Trial.
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
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.
1,326 results