SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing

por Santamaria, Raül, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2008

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

por Benetó, Noelia, Vilageliu, Lluïsa, Grinberg, Daniel, Canals, Isaac
Publicado 2020

Transcatheter Mitral Valve Repair to Treat Postmyocardial Infarction Papillary Muscle Rupture

por Hayek, Ahmad, Grinberg, Daniel, Derimay, François, Bochaton, Thomas
Publicado 2021

Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis

por Martínez-Gil, Núria, Ugartondo, Nerea, Grinberg, Daniel, Balcells, Susanna
Publicado 2022

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

por Canals, Isaac, Benetó, Noelia, Cozar, Mónica, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2015

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease

por Gómez-Grau, Marta, Albaigès, Júlia, Casas, Josefina, Auladell, Carme, Dierssen, Mara, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2017

Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress

por De-Ugarte, Laura, Balcells, Susana, Nogues, Xavier, Grinberg, Daniel, Diez-Perez, Adolfo, Garcia-Giralt, Natalia
Publicado 2018

How to reduce the ecological impact of gastric peroral endoscopic myotomy: a small effort for the environment

por Figueiredo, Mariana, Yzet, Clara, Grinberg, Daniel, Lambin, Thomas, Cottinet, Pierre-Jean, Rivory, Jérôme, Pioche, Mathieu
Publicado 2022

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

por Urreizti, Roser, Gürsoy, Semra, Castilla‐Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

por Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen
Publicado 2020

Case report of a child bearing a novel deleterious splicing variant in PIGT

por Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser
Publicado 2019

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts

por Martínez-Gil, Núria, Roca-Ayats, Neus, Cozar, Mónica, Garcia-Giralt, Natàlia, Ovejero, Diana, Nogués, Xavier, Grinberg, Daniel, Balcells, Susanna
Publicado 2021

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

por Pintó, Xavier, Vilaseca, M. Antonia, Balcells, Susana, Artuch, Rafael, Corbella, Emili, Meco, José F., Vila, Ramon, Pujol, Ramon, Grinberg, Daniel
Publicado 2005

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

por Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel
Publicado 2012

Influence of trends in hospital volume over time on patient outcomes for high-risk surgery

por Payet, Cécile, Polazzi, Stéphanie, Lifante, Jean-Christophe, Cotte, Eddy, Grinberg, Daniel, Carty, Matthew J., Sanchez, Stéphane, Rabilloud, Muriel, Duclos, Antoine
Publicado 2020

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

por Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, Roberto, Pereira, Catarina, Cozma, Claudia, Grinberg, Daniel, Vilageliu, Lluïsa, Lourenco, Charles M.
Publicado 2022

On the association between Chiari malformation type 1, bone mineral density and bone related genes

por Martínez-Gil, Núria, Mellibovsky, Leonardo, Manzano-López González, Demián, Patiño, Juan David, Cozar, Monica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2022

Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci

por Martínez‐Gil, Núria, Ovejero, Diana, Garcia‐Giralt, Natalia, Bruque, Carlos David, Mellibovsky, Leonardo, Nogués, Xavier, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna
Publicado 2022

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

por Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A., Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa
Publicado 2015

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density

por Martínez-Gil, Núria, Roca-Ayats, Neus, Monistrol-Mula, Anna, García-Giralt, Natàlia, Díez-Pérez, Adolfo, Nogués, Xavier, Mellibovsky, Leonardo, Grinberg, Daniel, Balcells, Susana
Publicado 2018