Giorda R - Search Results

1

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: giorda 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

2

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.

Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. Eur J Hum Genet. 2000 Aug;8(8):597-603. doi: 10.1038/sj.ejhg.5200509. Eur J Hum Genet. 2000. PMID: 10951522

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. Among authors: giorda r. Neuromuscul Disord. 2001 May;11(4):389-94. doi: 10.1016/s0960-8966(00)00207-8. Neuromuscul Disord. 2001. PMID: 11369190

4

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O. Bonaglia MC, et al. Among authors: giorda r. Am J Hum Genet. 2001 Aug;69(2):261-8. doi: 10.1086/321293. Epub 2001 Jun 18. Am J Hum Genet. 2001. PMID: 11431708 Free PMC article.

5

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: giorda 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.

6

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: giorda 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.

7

The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects.

Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G. Del Bo R, et al. Among authors: giorda r. J Neurol. 2003 Jun;250(6):688-92. doi: 10.1007/s00415-003-1057-5. J Neurol. 2003. PMID: 12796830

8

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. Cagliani R, et al. Among authors: giorda r. Neuromuscul Disord. 2003 Dec;13(10):788-95. doi: 10.1016/s0960-8966(03)00133-0. Neuromuscul Disord. 2003. PMID: 14678801

9

Silencer elements as possible inhibitors of pseudoexon splicing.

Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U. Sironi M, et al. Among authors: giorda r. Nucleic Acids Res. 2004 Mar 19;32(5):1783-91. doi: 10.1093/nar/gkh341. Print 2004. Nucleic Acids Res. 2004. PMID: 15034146 Free PMC article.

10

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing.

Pozzoli U, Riva L, Menozzi G, Cagliani R, Comi GP, Bresolin N, Giorda R, Sironi M. Pozzoli U, et al. Among authors: giorda r. Biochem Biophys Res Commun. 2004 Sep 17;322(2):470-6. doi: 10.1016/j.bbrc.2004.07.144. Biochem Biophys Res Commun. 2004. PMID: 15325254

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