Brusco A - Search Results

1

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Among authors: brusco a. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537

2

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.

Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A. Cagnoli C, et al. Among authors: brusco a. J Mol Diagn. 2004 May;6(2):96-100. doi: 10.1016/S1525-1578(10)60496-5. J Mol Diagn. 2004. PMID: 15096564 Free PMC article.

3

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Brusco A, et al. Arch Neurol. 2004 May;61(5):727-33. doi: 10.1001/archneur.61.5.727. Arch Neurol. 2004. PMID: 15148151

4

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Brussino A, Gellera C, Saluto A, Mariotti C, Arduino C, Castellotti B, Camerlingo M, de Angelis V, Orsi L, Tosca P, Migone N, Taroni F, Brusco A. Brussino A, et al. Among authors: brusco a. Neurology. 2005 Jan 11;64(1):145-7. doi: 10.1212/01.WNL.0000148723.37489.3F. Neurology. 2005. PMID: 15642922

5

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A. Cagnoli C, et al. Among authors: brusco a. Brain. 2006 Jan;129(Pt 1):235-42. doi: 10.1093/brain/awh651. Epub 2005 Oct 26. Brain. 2006. PMID: 16251216

6

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.

Cagnoli C, Stevanin G, Michielotto C, Gerbino Promis G, Brussino A, Pappi P, Durr A, Dragone E, Viemont M, Gellera C, Brice A, Migone N, Brusco A. Cagnoli C, et al. Among authors: brusco a. J Mol Diagn. 2006 Feb;8(1):128-32. doi: 10.2353/jmoldx.2006.050043. J Mol Diagn. 2006. PMID: 16436644 Free PMC article.

7

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Cagnoli C, Brussino A, Di Gregorio E, Brusco A, Stevanin G, Durr A, Brice A. Cagnoli C, et al. Among authors: brusco a. Mov Disord. 2007 Apr 15;22(5):752-3. doi: 10.1002/mds.21389. Mov Disord. 2007. PMID: 17290458 No abstract available.

8

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: brusco a. 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.

9

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: brusco a. Mov Disord. 2008 Jul 30;23(10):1468-71. doi: 10.1002/mds.21953. Mov Disord. 2008. PMID: 18566986

10

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F. Mariotti C, et al. Among authors: brusco a. Cerebellum. 2008;7(2):184-8. doi: 10.1007/s12311-008-0053-9. Cerebellum. 2008. PMID: 18769991

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