Orsi L - Search Results

1

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.

2

Reduced life expectancy in 40 cases of early onset cerebellar ataxia with retained tendon reflexes: a population-based study.

Chiò A, Orsi L, Mortara P, Schiffer D. Chiò A, et al. Among authors: orsi l. Acta Neurol Scand. 1993 Nov;88(5):358-62. doi: 10.1111/j.1600-0404.1993.tb05358.x. Acta Neurol Scand. 1993. PMID: 8296536

3

Early onset cerebellar ataxia with retained tendon reflexes: prevalence and gene frequency in an Italian population.

Chiò A, Orsi L, Mortara P, Schiffer D. Chiò A, et al. Among authors: orsi l. Clin Genet. 1993 Apr;43(4):207-11. doi: 10.1111/j.1399-0004.1993.tb04450.x. Clin Genet. 1993. PMID: 8330454

4

Definition of the smallest pathological CAG expansion in SCA7.

Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D, De Marchi M. Nardacchione A, et al. Among authors: orsi l. Clin Genet. 1999 Sep;56(3):232-4. doi: 10.1034/j.1399-0004.1999.560309.x. Clin Genet. 1999. PMID: 10563484 No abstract available.

5

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, Mortara P, Mutani R, Migone N, Orsi L. Brusco A, et al. Among authors: orsi l. J Neurol. 2002 Jul;249(7):923-9. doi: 10.1007/s00415-002-0760-y. J Neurol. 2002. PMID: 12140678

6

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.

7

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.

Cagnoli C, Brussino A, Sbaiz L, Di Gregorio E, Atzori C, Caroppo P, Orsi L, Migone N, Buffa C, Imperiale D, Brusco A. Cagnoli C, et al. Among authors: orsi l. Mov Disord. 2008 Jul 30;23(10):1468-71. doi: 10.1002/mds.21953. Mov Disord. 2008. PMID: 18566986

8

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. Di Gregorio E, et al. Among authors: orsi l. Cerebellum. 2010 Mar;9(1):115-23. doi: 10.1007/s12311-009-0154-0. Cerebellum. 2010. PMID: 20082166

9

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A. Brussino A, et al. Among authors: orsi l. Mov Disord. 2010 Jul 15;25(9):1269-73. doi: 10.1002/mds.22835. Mov Disord. 2010. PMID: 20629122

10

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

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