Zampieri S - Search Results

1

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.

Dardis A, Zampieri S, Filocamo M, Burlina A, Bembi B, Pittis MG. Dardis A, et al. Among authors: zampieri s. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9353. Hum Mutat. 2005. PMID: 16010684

2

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.

Zampieri S, Filocamo M, Buratti E, Stroppiano M, Vlahovicek K, Rosso N, Bignulin E, Regis S, Carnevale F, Bembi B, Dardis A. Zampieri S, et al. Neurogenetics. 2009 Feb;10(1):49-58. doi: 10.1007/s10048-008-0145-1. Epub 2008 Aug 29. Neurogenetics. 2009. PMID: 18758829

3

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

Zampieri S, Mellon SH, Butters TD, Nevyjel M, Covey DF, Bembi B, Dardis A. Zampieri S, et al. J Cell Mol Med. 2009 Sep;13(9B):3786-96. doi: 10.1111/j.1582-4934.2008.00493.x. Epub 2008 Sep 4. J Cell Mol Med. 2009. PMID: 18774957 Free PMC article.

4

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.

Fancello T, Dardis A, Rosano C, Tarugi P, Tappino B, Zampieri S, Pinotti E, Corsolini F, Fecarotta S, D'Amico A, Di Rocco M, Uziel G, Calandra S, Bembi B, Filocamo M. Fancello T, et al. Among authors: zampieri s. Neurogenetics. 2009 Jul;10(3):229-39. doi: 10.1007/s10048-009-0175-3. Epub 2009 Feb 28. Neurogenetics. 2009. PMID: 19252935

5

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A. Cozar M, et al. Among authors: zampieri s. Mol Genet Metab. 2011 Feb;102(2):226-8. doi: 10.1016/j.ymgme.2010.10.004. Epub 2010 Oct 29. Mol Genet Metab. 2011. PMID: 21036086

6

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Zampieri S, Buratti E, Dominissini S, Montalvo AL, Pittis MG, Bembi B, Dardis A. Zampieri S, et al. Eur J Hum Genet. 2011 Apr;19(4):422-31. doi: 10.1038/ejhg.2010.188. Epub 2010 Dec 22. Eur J Hum Genet. 2011. PMID: 21179066 Free PMC article.

7

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A. Zampieri S, et al. Gene. 2012 May 15;499(2):262-5. doi: 10.1016/j.gene.2012.03.022. Epub 2012 Mar 13. Gene. 2012. PMID: 22441121

8

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A. Zampieri S, et al. PLoS One. 2012;7(7):e41516. doi: 10.1371/journal.pone.0041516. Epub 2012 Jul 27. PLoS One. 2012. PMID: 22848519 Free PMC article. Clinical Trial.

9

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.

Zampieri S, Bembi B, Rosso N, Filocamo M, Dardis A. Zampieri S, et al. JIMD Rep. 2012;2:59-69. doi: 10.1007/8904_2011_49. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430855 Free PMC article.

10

A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.

Bergamin N, Dardis A, Beltrami A, Cesselli D, Rigo S, Zampieri S, Domenis R, Bembi B, Beltrami CA. Bergamin N, et al. Among authors: zampieri s. Orphanet J Rare Dis. 2013 Feb 21;8:34. doi: 10.1186/1750-1172-8-34. Orphanet J Rare Dis. 2013. PMID: 23433359 Free PMC article.

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