Brusco A - Search Results

1

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.

2

[Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention].

Carbonara A, Brusco A, Carbonara C. Carbonara A, et al. Among authors: brusco a. Ann Ital Med Int. 1996 Jul-Sep;11(3):180-6. Ann Ital Med Int. 1996. PMID: 8998263 Review. Italian.

3

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

4

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

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

6

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

7

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.

8

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

9

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

10

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

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