Brusco A - Search Results

1

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.

Di Gregorio E, Bianchi FT, Schiavi A, Chiotto AM, Rolando M, Verdun di Cantogno L, Grosso E, Cavalieri S, Calcia A, Lacerenza D, Zuffardi O, Retta SF, Stevanin G, Marelli C, Durr A, Forlani S, Chelly J, Montarolo F, Tempia F, Beggs HE, Reed R, Squadrone S, Abete MC, Brussino A, Ventura N, Di Cunto F, Brusco A. Di Gregorio E, et al. Among authors: brusco a. J Med Genet. 2013 Aug;50(8):543-51. doi: 10.1136/jmedgenet-2013-101542. Epub 2013 Jun 7. J Med Genet. 2013. PMID: 23749989 Free PMC article.

2

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene.

Longa L, Saluto A, Brusco A, Polidoro S, Padovan S, Allavena A, Carbonara C, Grosso E, Migone N. Longa L, et al. Among authors: brusco a. Hum Genet. 2001 Feb;108(2):156-66. doi: 10.1007/s004390100460. Hum Genet. 2001. PMID: 11281455

3

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. J Neurol. 2002 Jul;249(7):923-9. doi: 10.1007/s00415-002-0760-y. J Neurol. 2002. PMID: 12140678

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

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.

Saluto A, Brussino A, Tassone F, Arduino C, Cagnoli C, Pappi P, Hagerman P, Migone N, Brusco A. Saluto A, et al. Among authors: brusco a. J Mol Diagn. 2005 Nov;7(5):605-12. doi: 10.1016/S1525-1578(10)60594-6. J Mol Diagn. 2005. PMID: 16258159 Free PMC article.

7

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.

8

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: brusco a. Hum Mutat. 2006 Oct;27(10):1061. doi: 10.1002/humu.9454. Hum Mutat. 2006. PMID: 16941484

9

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.

10

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: brusco a. Ann Hum Genet. 2008 Jan;72(Pt 1):10-8. doi: 10.1111/j.1469-1809.2007.00399.x. Epub 2007 Oct 3. Ann Hum Genet. 2008. PMID: 17910737

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