Cagnoli C - 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. 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

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. 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. Among authors: cagnoli c. Arch Neurol. 2004 May;61(5):727-33. doi: 10.1001/archneur.61.5.727. Arch Neurol. 2004. PMID: 15148151

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: cagnoli c. 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

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.

6

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

7

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. Brain. 2006 Jan;129(Pt 1):235-42. doi: 10.1093/brain/awh651. Epub 2005 Oct 26. Brain. 2006. PMID: 16251216

8

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A. Cagnoli C, et al. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342. Hum Mutat. 2010. PMID: 20725928

9

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A. Mancini C, et al. Among authors: cagnoli c. BMC Med Genomics. 2013 Jun 18;6:22. doi: 10.1186/1755-8794-6-22. BMC Med Genomics. 2013. PMID: 23777634 Free PMC article.

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: cagnoli c. 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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