D'Avanzo F - Search Results

1

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.

2

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.

3

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. BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37. BMC Med Genomics. 2013. PMID: 24083598 Free PMC article.

4

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Tomanin R, Zanetti A, D'Avanzo F, Rampazzo A, Gasparotto N, Parini R, Pascarella A, Concolino D, Procopio E, Fiumara A, Borgo A, Frigo AC, Scarpa M. Tomanin R, et al. Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1. Orphanet J Rare Dis. 2014. PMID: 25231261 Free PMC article.

5

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders.

Salvalaio M, Rigon L, Belletti D, D'Avanzo F, Pederzoli F, Ruozi B, Marin O, Vandelli MA, Forni F, Scarpa M, Tomanin R, Tosi G. Salvalaio M, et al. PLoS One. 2016 May 26;11(5):e0156452. doi: 10.1371/journal.pone.0156452. eCollection 2016. PLoS One. 2016. PMID: 27228099 Free PMC article.

6

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.

Zalfa C, Verpelli C, D'Avanzo F, Tomanin R, Vicidomini C, Cajola L, Manara R, Sala C, Scarpa M, Vescovi AL, De Filippis L. Zalfa C, et al. Cell Death Dis. 2016 Aug 11;7(8):e2331. doi: 10.1038/cddis.2016.231. Cell Death Dis. 2016. PMID: 27512952 Free PMC article.

7

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.

Bertoldi L, Forcato C, Vitulo N, Birolo G, De Pascale F, Feltrin E, Schiavon R, Anglani F, Negrisolo S, Zanetti A, D'Avanzo F, Tomanin R, Faulkner G, Vezzi A, Valle G. Bertoldi L, et al. BMC Bioinformatics. 2017 Apr 28;18(1):225. doi: 10.1186/s12859-017-1654-4. BMC Bioinformatics. 2017. PMID: 28454514 Free PMC article.

8

Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model.

Salvalaio M, D'Avanzo F, Rigon L, Zanetti A, D'Angelo M, Valle G, Scarpa M, Tomanin R. Salvalaio M, et al. Int J Mol Sci. 2017 May 17;18(5):1072. doi: 10.3390/ijms18051072. Int J Mol Sci. 2017. PMID: 28513549 Free PMC article.

9

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Zanetti A, et al. Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26. Eur J Pediatr. 2019. PMID: 30809705 Free PMC article. Clinical Trial.

10

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.

Rigon L, Salvalaio M, Pederzoli F, Legnini E, Duskey JT, D'Avanzo F, De Filippis C, Ruozi B, Marin O, Vandelli MA, Ottonelli I, Scarpa M, Tosi G, Tomanin R. Rigon L, et al. Int J Mol Sci. 2019 Apr 24;20(8):2014. doi: 10.3390/ijms20082014. Int J Mol Sci. 2019. PMID: 31022913 Free PMC article.

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