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Items: 11

1.

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.

Int J Mol Sci. 2017 May 17;18(5). pii: E1072. doi: 10.3390/ijms18051072.

2.

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.

BMC Bioinformatics. 2017 Apr 28;18(1):225. doi: 10.1186/s12859-017-1654-4.

3.

The ethical framework for performing research with rare inherited neurometabolic disease patients.

Giannuzzi V, Devlieger H, Margari L, Odlind VL, Ragab L, Bellettato CM, D'Avanzo F, Lampe C, Cassis L, Cortès-Saladelafont E, Cazorla ÁG, Barić I, Cvitanović-Šojat L, Fumić K, Dali CI, Bartoloni F, Bonifazi F, Scarpa M, Ceci A.

Eur J Pediatr. 2017 Mar;176(3):395-405. doi: 10.1007/s00431-017-2852-9. Epub 2017 Jan 16. Review.

4.

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Ponce EC, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2016 Nov 3;11(1):147. No abstract available.

5.

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.

Cell Death Dis. 2016 Aug 11;7(8):e2331. doi: 10.1038/cddis.2016.231.

6.

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.

PLoS One. 2016 May 26;11(5):e0156452. doi: 10.1371/journal.pone.0156452. eCollection 2016.

7.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Ormazábal A, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Meavilla-Olivas S, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á.

Orphanet J Rare Dis. 2015 Dec 30;10:164. doi: 10.1186/s13023-015-0376-9. Review. Erratum in: Orphanet J Rare Dis. 2016 Nov 3;11(1):147.

8.

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.

Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1.

9.

Potentially resectable metastatic colorectal cancer: an individualized approach to conversion therapy.

Marino D, Leone F, D'Avanzo F, Ribero D, Capussotti L, Aglietta M.

Crit Rev Oncol Hematol. 2014 Dec;92(3):218-26. doi: 10.1016/j.critrevonc.2014.05.010. Epub 2014 Jun 8. Review.

10.

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.

BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37.

11.

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.

Acta Paediatr. 2012 Jul;101(7):692-701. doi: 10.1111/j.1651-2227.2012.02674.x. Epub 2012 Apr 11. Review.

PMID:
22428546

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