Brusco A - Search Results

1

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. Giorgio E, et al. Among authors: brusco a. Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20. Hum Mol Genet. 2015. PMID: 25701871 Free PMC article.

2

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy.

Giordana MT, Piccinini M, Palmucci L, Buccinnà B, Ramondetti C, Brusco A, Mongini T, Vaula G, Rinaudo MT. Giordana MT, et al. Among authors: brusco a. Brain Pathol. 2005 Apr;15(2):116-23. doi: 10.1111/j.1750-3639.2005.tb00506.x. Brain Pathol. 2005. PMID: 15912883 Free PMC article.

3

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

4

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.

5

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.

6

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.

7

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

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

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, Calabrese O, Brusco A. Brussino A, et al. Among authors: brusco a. J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330. J Neurol Neurosurg Psychiatry. 2009. PMID: 19151023 Free article.

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