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Lista de obras de Stefania Zampieri

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Functional analysis of 11 novel GBA alleles

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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