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

Por Zampieri, Stefania, Bembi, Bruno, Rosso, Natalia, Filocamo, Mirella, Dardis, Andrea
Publicado em 2011

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Por Zampieri, Stefania, Bianchi, Ezio, Cantile, Carlo, Saleri, Roberta, Bembi, Bruno, Dardis, Andrea
Publicado no PLoS One (2014)

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

Por Zampieri, Stefania, Buratti, Emanuele, Dominissini, Silvia, Montalvo, Anna Lisa, Pittis, Maria Gabriela, Bembi, Bruno, Dardis, Andrea
Publicado em 2011

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

Por Zampieri, Stefania, Mellon, Synthia H, Butters, Terry D, Nevyjel, Marco, Covey, Douglas F, Bembi, Bruno, Dardis, Andrea
Publicado em 2009

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

Por Bergamin, Natascha, Dardis, Andrea, Beltrami, Antonio, Cesselli, Daniela, Rigo, Silvia, Zampieri, Stefania, Domenis, Rossana, Bembi, Bruno, Beltrami, Carlo Alberto
Publicado em 2013

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

Por Dardis, Andrea, Zanin, Irene, Zampieri, Stefania, Stuani, Cristiana, Pianta, Annalisa, Romanello, Milena, Baralle, Francisco E., Bembi, Bruno, Buratti, Emanuele
Publicado em 2014

Functional analysis of 11 novel GBA alleles

Por Malini, Erika, Grossi, Serena, Deganuto, Marta, Rosano, Camillo, Parini, Rossella, Dominisini, Silvia, Cariati, Roberta, Zampieri, Stefania, Bembi, Bruno, Filocamo, Mirella, Dardis, Andrea
Publicado em 2014

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

Por Sechi, Annalisa, Dardis, Andrea, Zampieri, Stefania, Rabacchi, Claudio, Zanoni, Paolo, Calandra, Sebastiano, De Maglio, Giovanna, Pizzolitto, Stefano, Maruotti, Valerio, Di Muzio, Antonio, Platt, Frances, Bembi, Bruno
Publicado em 2014

Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Por Zampieri, Stefania, Cattarossi, Silvia, Oller Ramirez, Ana Maria, Rosano, Camillo, Lourenco, Charles Marques, Passon, Nadia, Moroni, Isabella, Uziel, Graziella, Pettinari, Antonella, Stanzial, Franco, de Kremer, Raquel Dodelson, Azar, Nydia Beatriz, Hazan, Filiz, Filocamo, Mirella, Bembi, Bruno, Dardis, Andrea
Publicado em 2012