Profile of eliglustat tartrate in the management of Gaucher disease

por Sechi, Annalisa, Dardis, Andrea, Bembi, Bruno
Publicado 2016

Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat

por Accardo, Agostino, Pensiero, Stefano, Ciana, Giovanni, Parentin, Fulvio, Bembi, Bruno
Publicado 2010

Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance...

por Sechi, Annalisa, Nucifora, Gaetano, Piccoli, Gianluca, Dardis, Andrea, Bembi, Bruno
Publicado 2014

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

por Goina, Elisa, Peruzzo, Paolo, Bembi, Bruno, Dardis, Andrea, Buratti, Emanuele
Publicado 2017

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 2014

Focal hepatic lesions in acid sphingomyelinase deficiency: Differential diagnosis between foamy macrophages aggregates and malignancy

por Sechi, Annalisa, Vit, Alessandro, Avellini, Claudio, Dardis, Andrea, Pellegrin, Andrea, Scarpa, Maurizio, Bembi, Bruno
Publicado 2021

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 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 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 2014

Chronic pain in Gaucher disease: skeletal or neuropathic origin?

por Devigili, Grazia, De Filippo, Michele, Ciana, Giovanni, Dardis, Andrea, Lettieri, Christian, Rinaldo, Sara, Macor, Daniela, Moro, Alessandro, Eleopra, Roberto, Bembi, Bruno
Publicado 2017

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

por McGovern, Margaret M., Wasserstein, Melissa P., Bembi, Bruno, Giugliani, Roberto, Mengel, K. Eugen, Vanier, Marie T., Zhang, Qi, Peterschmitt, M. Judith
Publicado 2021

Endosperm-specific expression of human acid beta-glucosidase in a waxy rice

por Patti, Tamara, Bembi, Bruno, Cristin, Piero, Mazzarol, Flavia, Secco, Erika, Pappalardo, Carla, Musetti, Rita, Martinuzzi, Maurizio, Versolatto, Serena, Cariati, Roberta, Dardis, Andrea, Marchetti, Stefano
Publicado 2012

In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy

por Ciana, Giovanni, Dardis, Andrea, Pavan, Eleonora, Da Riol, Rosalia Maria, Biasizzo, Jessica, Ferino, Dania, Zanatta, Manuela, Boni, Antonella, Antonini, Luisa, Crichiutti, Giovanni, Bembi, Bruno
Publicado 2020

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 2014

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

por Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Publicado 2010

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

por Zimran, Ari, Belmatoug, Nadia, Bembi, Bruno, Deegan, Patrick, Elstein, Deborah, Fernandez‐Sasso, Diego, Giraldo, Pilar, Goker‐Alpan, Ozlem, Lau, Heather, Lukina, Elena, Panahloo, Zoya, Schwartz, Ida Vanessa D.
Publicado 2017

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase

por Fog, Cathrine K., Zago, Paola, Malini, Erika, Solanko, Lukasz M., Peruzzo, Paolo, Bornaes, Claus, Magnoni, Raffaella, Mehmedbasic, Arnela, Petersen, Nikolaj H.T., Bembi, Bruno, Aerts, Johannes F.M.G., Dardis, Andrea, Kirkegaard, Thomas
Publicado 2018

Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study

por Sechi, Annalisa, Zuccarelli, Lucrezia, Grassi, Bruno, Frangiamore, Rita, De Amicis, Ramona, Marzorati, Mauro, Porcelli, Simone, Tullio, Annarita, Bacco, Anna, Bertoli, Simona, Dardis, Andrea, Biasutti, Lea, Pasanisi, Maria Barbara, Devigili, Grazia, Bembi, Bruno
Publicado 2020

Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease

por Colaco, Alexandria, Kaya, Ecem, Adriaenssens, Elias, Davis, Lianne C., Zampieri, Stefania, Fernández‐Suárez, María E., Tan, Chong Y., Deegan, Patrick B., Porter, Forbes D., Galione, Antony, Bembi, Bruno, Dardis, Andrea, Platt, Frances M.
Publicado 2019

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 2012