Tomanin R - Search Results

1

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.

Zanetti A, D'Avanzo F, Bertoldi L, Zampieri G, Feltrin E, De Pascale F, Rampazzo A, Forzan M, Valle G, Tomanin R. Zanetti A, et al. Among authors: tomanin r. J Mol Diagn. 2020 Apr;22(4):488-502. doi: 10.1016/j.jmoldx.2020.01.010. Epub 2020 Feb 7. J Mol Diagn. 2020. PMID: 32036093 Free article.

2

Gene therapy of Hunter syndrome: evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS).

Friso A, Tomanin R, Zanetti A, Mennuni C, Calvaruso F, La Monica N, Marin O, Zacchello F, Scarpa M. Friso A, et al. Among authors: tomanin r. Biochim Biophys Acta. 2008 Oct;1782(10):574-80. doi: 10.1016/j.bbadis.2008.07.001. Epub 2008 Jul 14. Biochim Biophys Acta. 2008. PMID: 18675343 Free article.

3

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M. Gasparotto N, et al. Among authors: tomanin r. Clin Chim Acta. 2009 Apr;402(1-2):38-41. doi: 10.1016/j.cca.2008.12.006. Epub 2008 Dec 13. Clin Chim Acta. 2009. PMID: 19111682

4

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Zanetti A, Ferraresi E, Picci L, Filocamo M, Parini R, Rosano C, Tomanin R, Scarpa M. Zanetti A, et al. Among authors: tomanin r. Eur J Hum Genet. 2009 Sep;17(9):1160-4. doi: 10.1038/ejhg.2009.19. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259130 Free PMC article.

5

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Manara R, Rampazzo A, Cananzi M, Salviati L, Mardari R, Drigo P, Tomanin R, Gasparotto N, Priante E, Scarpa M. Manara R, et al. Among authors: tomanin r. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S67-72. doi: 10.1007/s10545-009-9023-8. Epub 2010 Jan 6. J Inherit Metab Dis. 2010. PMID: 20052546

6

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.

Tomanin R, Zanetti A, Zaccariotto E, D'Avanzo F, Bellettato CM, Scarpa M. Tomanin R, et al. Acta Paediatr. 2012 Jul;101(7):692-701. doi: 10.1111/j.1651-2227.2012.02674.x. Epub 2012 Apr 11. Acta Paediatr. 2012. PMID: 22428546 Review.

7

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.

Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: tomanin r. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223

8

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

Mazzoccoli G, Tomanin R, Mazza T, D'Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M. Mazzoccoli G, et al. Among authors: tomanin r. BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37. BMC Med Genomics. 2013. PMID: 24083598 Free PMC article.

9

Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved.

Fusar Poli E, Zalfa C, D'Avanzo F, Tomanin R, Carlessi L, Bossi M, Nodari LR, Binda E, Marmiroli P, Scarpa M, Delia D, Vescovi AL, De Filippis L. Fusar Poli E, et al. Among authors: tomanin r. Cell Death Dis. 2013 Nov 7;4(11):e906. doi: 10.1038/cddis.2013.430. Cell Death Dis. 2013. PMID: 24201805 Free PMC article.

10

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A, Onenli-Mungan N, Elcioglu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: tomanin r. JIMD Rep. 2014;14:1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16. JIMD Rep. 2014. PMID: 24243352 Free PMC article.

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