Cagliani R - Search Results

1

An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients.

Barizzone N, Cagliani R, Basagni C, Clarelli F, Mendozzi L, Agliardi C, Forni D, Tosi M, Mascia E, Favero F, Corà D, Corrado L, Sorosina M, Esposito F, Zuccalà M, Vecchio D, Liguori M, Comi C, Comi G, Martinelli V, Filippi M, Leone M, Martinelli-Boneschi F, Caputo D, Sironi M, Guerini FR, D'Alfonso S. Barizzone N, et al. Among authors: cagliani r. Genes (Basel). 2021 Oct 13;12(10):1607. doi: 10.3390/genes12101607. Genes (Basel). 2021. PMID: 34681001 Free PMC article.

2

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP. Sironi M, et al. Among authors: cagliani r. Hum Mutat. 2001 Mar;17(3):239. doi: 10.1002/humu.18. Hum Mutat. 2001. PMID: 11241855 No abstract available.

3

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.

Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunato F, Giorda R, Bardoni A, Moggio M, Prelle A, Bresolin N, Scarlato G. Cagliani R, et al. Neuromuscul Disord. 2001 May;11(4):389-94. doi: 10.1016/s0960-8966(00)00207-8. Neuromuscul Disord. 2001. PMID: 11369190

4

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

Sironi M, Bardoni A, Felisari G, Cagliani R, Robotti M, Comi GP, Moggio M, Bresolin N. Sironi M, et al. Among authors: cagliani r. J Neurol Sci. 2001 May 1;186(1-2):51-7. doi: 10.1016/s0022-510x(01)00502-0. J Neurol Sci. 2001. PMID: 11412872

5

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms.

Sironi M, Pozzoli U, Cagliani R, Comi GP, Bardoni A, Bresolin N. Sironi M, et al. Among authors: cagliani r. Hum Genet. 2001 Jul;109(1):73-84. doi: 10.1007/s004390100547. Hum Genet. 2001. PMID: 11479738

6

Comparative analysis of the human dystrophin and utrophin gene structures.

Pozzoli U, Sironi M, Cagliani R, Comi GP, Bardoni A, Bresolin N. Pozzoli U, et al. Among authors: cagliani r. Genetics. 2002 Feb;160(2):793-8. doi: 10.1093/genetics/160.2.793. Genetics. 2002. PMID: 11861579 Free PMC article.

7

The dystrophin gene is alternatively spliced throughout its coding sequence.

Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R, Bresolin N. Sironi M, et al. Among authors: cagliani r. FEBS Lett. 2002 Apr 24;517(1-3):163-6. doi: 10.1016/s0014-5793(02)02613-3. FEBS Lett. 2002. PMID: 12062429 Free article.

8

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.

Sironi M, Pozzoli U, Cagliani R, Giorda R, Comi GP, Bardoni A, Menozzi G, Bresolin N. Sironi M, et al. Among authors: cagliani r. Hum Genet. 2003 Mar;112(3):272-88. doi: 10.1007/s00439-002-0881-5. Epub 2002 Dec 19. Hum Genet. 2003. PMID: 12596052

9

Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles.

Sironi M, Cagliani R, Comi GP, Pozzoli U, Bardoni A, Giorda R, Bresolin N. Sironi M, et al. Among authors: cagliani r. FEBS Lett. 2003 Feb 27;537(1-3):30-4. doi: 10.1016/s0014-5793(03)00066-8. FEBS Lett. 2003. PMID: 12606026 Free article.

10

A CAV3 microdeletion differentially affects skeletal muscle and myocardium.

Cagliani R, Bresolin N, Prelle A, Gallanti A, Fortunato F, Sironi M, Ciscato P, Fagiolari G, Bonato S, Galbiati S, Corti S, Lamperti C, Moggio M, Comi GP. Cagliani R, et al. Neurology. 2003 Dec 9;61(11):1513-9. doi: 10.1212/01.wnl.0000097320.35982.03. Neurology. 2003. PMID: 14663034

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