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ELOVL5 mutations cause spinocerebellar ataxia 38.
Di Gregorio E, Borroni B, Giorgio E, Lacerenza D, Ferrero M, Lo Buono N, Ragusa N, Mancini C, Gaussen M, Calcia A, Mitro N, Hoxha E, Mura I, Coviello DA, Moon YA, Tesson C, Vaula G, Couarch P, Orsi L, Duregon E, Papotti MG, Deleuze JF, Imbert J, Costanzi C, Padovani A, Giunti P, Maillet-Vioud M, Durr A, Brice A, Tempia F, Funaro A, Boccone L, Caruso D, Stevanin G, Brusco A. Di Gregorio E, et al. Among authors: orsi l. Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065913 Free PMC 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.
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.
Novel mutation of SLC20A2 in an Italian patient presenting with migraine.
Rubino E, Giorgio E, Gallone S, Pinessi L, Orsi L, Gentile S, Duca S, Brusco A. Rubino E, et al. Among authors: orsi l. J Neurol. 2014 Oct;261(10):2019-21. doi: 10.1007/s00415-014-7475-8. Epub 2014 Sep 2. J Neurol. 2014. PMID: 25178512 Free article. No abstract available.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. Mancini C, et al. Among authors: orsi l. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. BMC Med Genet. 2015. PMID: 25927548 Free PMC article.
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).
Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L. Borroni B, et al. Among authors: orsi l. Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27. Parkinsonism Relat Disord. 2016. PMID: 27143115 Free PMC article.
176 results