Cagnoli C - Search Results

1

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.

2

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.

3

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.

4

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

5

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.

6

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F. Mariotti C, et al. Among authors: cagnoli c. Cerebellum. 2008;7(2):184-8. doi: 10.1007/s12311-008-0053-9. Cerebellum. 2008. PMID: 18769991

7

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A. Di Gregorio E, et al. Among authors: cagnoli c. Cerebellum. 2010 Mar;9(1):115-23. doi: 10.1007/s12311-009-0154-0. Cerebellum. 2010. PMID: 20082166

8

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F. Mancini C, et al. Among authors: cagnoli c. Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30. Neurobiol Dis. 2019. PMID: 30389403 Free article.

9

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Among authors: cagnoli c. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537

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. 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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