Zampieri S - Search Results

1

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Marzollo A, Zampieri S, Barozzi S, Yousaf MA, Quartararo J, De Rocco D, Faleschini M, Marconi C, Ceccatelli Berti C, Bozzi V, Russo G, Giordano P, Goffrini P, Bresolin S, Pastore A, Savoia A, Pecci A. Marzollo A, et al. Among authors: zampieri s. Br J Haematol. 2024 Jul;205(1):306-315. doi: 10.1111/bjh.19567. Epub 2024 May 30. Br J Haematol. 2024. PMID: 38815995

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

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.

Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: zampieri s. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.

4

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

5

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.

6

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Zampieri S, Cattarossi S, Ferri L, Graziano C, Santostefano M, Morrone A, Dardis A. Zampieri S, et al. Clin Genet. 2024 Nov;106(5):661-663. doi: 10.1111/cge.14591. Epub 2024 Jul 18. Clin Genet. 2024. PMID: 39023102

7

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.

8

Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).

Dardis A, Pavan E, Fabris M, Da Riol RM, Sechi A, Fiumara A, Santoro L, Ormazabal M, Milanic R, Zampieri S, Biasizzo J, Scarpa M. Dardis A, et al. Among authors: zampieri s. J Clin Med. 2021 Oct 19;10(20):4796. doi: 10.3390/jcm10204796. J Clin Med. 2021. PMID: 34682919 Free PMC article.

9

Role of Niemann-Pick Type C Disease Mutations in Dementia.

Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC. Cupidi C, et al. Among authors: zampieri s. J Alzheimers Dis. 2017;55(3):1249-1259. doi: 10.3233/JAD-160214. J Alzheimers Dis. 2017. PMID: 27792009

10

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E. Dardis A, et al. Among authors: zampieri s. Nucleic Acids Res. 2014 Jan;42(2):1291-302. doi: 10.1093/nar/gkt987. Epub 2013 Oct 22. Nucleic Acids Res. 2014. PMID: 24150945 Free PMC article.

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