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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: orsi l. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
Cagnoli C, Brussino A, Di Gregorio E, Caroppo P, Stola S, Dragone E, Ferrone M, Padovan S, Migone N, Orsi L, Brusco A. Cagnoli C, et al. Among authors: orsi l. J Neurol. 2008 Jul;255(7):1079-80. doi: 10.1007/s00415-008-0772-3. Epub 2008 May 5. J Neurol. 2008. PMID: 18446310 No abstract available.
Neuropsychological picture of 33 spinocerebellar ataxia cases.
Orsi L, D'Agata F, Caroppo P, Franco A, Caglio MM, Avidano F, Manzone C, Mortara P. Orsi L, et al. J Clin Exp Neuropsychol. 2011 Mar;33(3):315-25. doi: 10.1080/13803395.2010.518139. Epub 2011 Feb 6. J Clin Exp Neuropsychol. 2011. PMID: 21302172
The recognition of facial emotions in spinocerebellar ataxia patients.
D'Agata F, Caroppo P, Baudino B, Caglio M, Croce M, Bergui M, Tamietto M, Mortara P, Orsi L. D'Agata F, et al. Among authors: orsi l. Cerebellum. 2011 Sep;10(3):600-10. doi: 10.1007/s12311-011-0276-z. Cerebellum. 2011. PMID: 21503592 Free article.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network; Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Tezenas du Montcel S, et al. Among authors: orsi l. Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26. Brain. 2014. PMID: 24972706 Free PMC article.
176 results