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

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

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

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

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

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

por Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G., Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac
Publicado 2020