Brusco A - Search Results

1

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.

2

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease.

Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, Migone N, Maiorca R. Longa L, et al. Among authors: brusco a. Nephrol Dial Transplant. 1997 Sep;12(9):1900-7. doi: 10.1093/ndt/12.9.1900. Nephrol Dial Transplant. 1997. PMID: 9306341

3

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.

Longa L, Brusco A, Carbonara C, Polidoro S, Scolari F, Valzorio B, Riegler P, Tardanico R, Migone N. Longa L, et al. Among authors: brusco a. Contrib Nephrol. 1997;122:91-5. doi: 10.1159/000059909. Contrib Nephrol. 1997. PMID: 9399046 No abstract available.

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: brusco a. 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

Polyvariant mutant CFTR genes in patients with chronic pancreatitis.

Arduino C, Gallo M, Brusco A, Garnerone S, Piana MR, Di Maggio S, Gerbino Promis G, Ferrone M, Angeli A, Gaia E. Arduino C, et al. Among authors: brusco a. Clin Genet. 1999 Nov;56(5):400-4. doi: 10.1034/j.1399-0004.1999.560509.x. Clin Genet. 1999. PMID: 10668931

6

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

7

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

8

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

Saviozzi S, Saluto A, Piane M, Prudente S, Migone N, DeMarchi M, Brusco A, Chessa L. Saviozzi S, et al. Among authors: brusco a. Hum Mutat. 2003 Apr;21(4):450. doi: 10.1002/humu.9129. Hum Mutat. 2003. PMID: 12655570

9

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.

10

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

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