Soldà G - Search Results

1

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Robusto M, Fang M, Asselta R, Castorina P, Previtali SC, Caccia S, Benzoni E, De Cristofaro R, Yu C, Cesarani A, Liu X, Li W, Primignani P, Ambrosetti U, Xu X, Duga S, Soldà G. Robusto M, et al. Among authors: solda g. Eur J Hum Genet. 2015 Jun;23(6):766-73. doi: 10.1038/ejhg.2014.168. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182139 Free PMC article.

2

Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms.

Duga S, Soldà G, Asselta R, Bonati MT, Dalprà L, Malcovati M, Tenchini ML. Duga S, et al. Among authors: solda g. J Hum Genet. 2001;46(11):640-8. doi: 10.1007/s100380170015. J Hum Genet. 2001. PMID: 11721883

3

In vivo RNA-RNA duplexes from human alpha3 and alpha5 nicotinic receptor subunit mRNAs.

Soldà G, Boi S, Duga S, Fornasari D, Benfante R, Malcovati M, Tenchini ML. Soldà G, et al. Gene. 2005 Jan 31;345(2):155-64. doi: 10.1016/j.gene.2004.12.005. Epub 2005 Jan 5. Gene. 2005. PMID: 15716100

4

A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.

Soldà G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. Soldà G, et al. Haematologica. 2005 Dec;90(12):1716-8. Haematologica. 2005. PMID: 16330457

5

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. Guella I, et al. Among authors: solda g. Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723. Thromb Haemost. 2008. PMID: 18327400

6

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S. Asselta R, et al. Among authors: solda g. Blood. 2010 Mar 11;115(10):2065-72. doi: 10.1182/blood-2009-09-245092. Epub 2009 Dec 30. Blood. 2010. PMID: 20042724 Free article.

7

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S. Soldà G, et al. Hum Mol Genet. 2012 Feb 1;21(3):577-85. doi: 10.1093/hmg/ddr493. Epub 2011 Oct 28. Hum Mol Genet. 2012. PMID: 22038834 Free PMC article.

8

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Trotta L, Guella I, Soldà G, Sironi F, Tesei S, Canesi M, Pezzoli G, Goldwurm S, Duga S, Asselta R. Trotta L, et al. Among authors: solda g. Parkinsonism Relat Disord. 2012 Mar;18(3):257-62. doi: 10.1016/j.parkreldis.2011.10.014. Epub 2011 Nov 21. Parkinsonism Relat Disord. 2012. PMID: 22104010 Free PMC article.

9

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients.

Paraboschi EM, Soldà G, Gemmati D, Orioli E, Zeri G, Benedetti MD, Salviati A, Barizzone N, Leone M, Duga S, Asselta R. Paraboschi EM, et al. Among authors: solda g. Int J Mol Sci. 2011;12(12):8695-712. doi: 10.3390/ijms12128695. Epub 2011 Dec 1. Int J Mol Sci. 2011. PMID: 22272099 Free PMC article.

10

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease.

Guella I, Soldà G, Cilia R, Pezzoli G, Asselta R, Duga S, Goldwurm S. Guella I, et al. Among authors: solda g. Mov Disord. 2012 May;27(6):800-1. doi: 10.1002/mds.24927. Epub 2012 Jan 25. Mov Disord. 2012. PMID: 22278960 No abstract available.

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