Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders

por Dardis, Andrea, Buratti, Emanuele
Publicado 2018

Profile of eliglustat tartrate in the management of Gaucher disease

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

Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease

por Bon, Martina, Dardis, Andrea, Scarpa, Maurizio, Sechi, Annalisa
Publicado 2023

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

CRISPR/Cas9 Editing for Gaucher Disease Modelling

por Pavan, Eleonora, Ormazabal, Maximiliano, Peruzzo, Paolo, Vaena, Emilio, Rozenfeld, Paula, Dardis, Andrea
Publicado 2020

Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective

por Pinto, Carolina, Sousa, Diana, Ghilas, Vladimir, Dardis, Andrea, Scarpa, Maurizio, Macedo, Maria Fatima
Publicado 2021

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

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model

por D’Avanzo, Francesca, Zanetti, Alessandra, Dardis, Andrea, Scarpa, Maurizio, Volpi, Nicola, Gatto, Francesco, Tomanin, Rosella
Publicado 2023

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

por Las Heras, Macarena, Szenfeld, Benjamín, Ballout, Rami A., Buratti, Emanuele, Zanlungo, Silvana, Dardis, Andrea, Klein, Andrés D.
Publicado 2023

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

Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn rat

por Vianello, Eleonora, Zampieri, Stefania, Marcuzzo, Thomas, Tordini, Fabio, Bottin, Cristina, Dardis, Andrea, Zanconati, Fabrizio, Tiribelli, Claudio, Gazzin, Silvia
Publicado 2018

Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis

por Santoro, Lucia, Zampini, Lucia, Padella, Lucia, Monachesi, Chiara, Zampieri, Stefania, Dardis, Andrea, Cordiali, Rosanna, Galeazzi, Tiziana, Catassi, Carlo
Publicado 2020

Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts

por Buratti, Emanuele, Peruzzo, Paolo, Braga, Luca, Zanin, Irene, Stuani, Cristiana, Goina, Elisa, Romano, Maurizio, Giacca, Mauro, Dardis, Andrea
Publicado 2020

Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test

por Zampieri, Stefania, Cattarossi, Silvia, Pavan, Eleonora, Barbato, Antonio, Fiumara, Agata, Peruzzo, Paolo, Scarpa, Maurizio, Ciana, Giovanni, Dardis, Andrea
Publicado 2021

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

Clinical and neurophysiological characteristics of heterozygous NPC1 carriers

por Benussi, Alberto, Cotelli, Maria S., Cantoni, Valentina, Bertasi, Valeria, Turla, Marinella, Dardis, Andrea, Biasizzo, Jessica, Manenti, Rosa, Cotelli, Maria, Padovani, Alessandro, Borroni, Barbara
Publicado 2019