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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: mariotti c. 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.
Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients.
Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, Boesch S, Bonato S, Fancellu R, Giunti P, Globas C, Kang JS, Kremer B, Mariotti C, Melegh B, Rakowicz M, Rola R, Romano S, Schöls L, Szymanski S, van de Warrenburg BP, Zdzienicka E, Dürr A, Klockgether T. Schmitz-Hübsch T, et al. Among authors: mariotti c. Mov Disord. 2006 May;21(5):699-704. doi: 10.1002/mds.20781. Mov Disord. 2006. PMID: 16450347
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F. Gellera C, et al. Among authors: mariotti c. Neurogenetics. 2007 Nov;8(4):289-99. doi: 10.1007/s10048-007-0101-5. Epub 2007 Aug 17. Neurogenetics. 2007. PMID: 17703324
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: mariotti c. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hubsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schols L. Globas C, et al. Among authors: mariotti c. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Mov Disord. 2008. PMID: 18759344
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Among authors: mariotti c. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
659 results