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List of works by Stefania Zampieri

A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation

scientific article published on 09 December 2020

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

scientific article published on 21 February 2013

Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease

scientific article

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

scientific article published on 11 January 2016

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

scientific article

Functional analysis of 11 novel GBA alleles

scientific article

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease

scientific article published on 09 November 2019

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

article

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

scientific article published on 29 October 2010

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

scientific article

Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins

scientific article published on 24 December 2014

Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.

scientific article

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

scientific article

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

scientific article published on 22 December 2010

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