Browsing by Author Cozar, Mónica
Showing results 1 to 13 of 13
Issue Date | Title | Author(s) |
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19-Aug-2015 | Evaluation of aminoglycoside and non-aminoglycoside compounds for stop-codon readthrough therapy in four lysosomal storage diseases | Gómez Grau, Marta; Garrido Fernández, Elena; Cozar, Mónica; Rodríguez Sureda, Víctor; Domínguez, Carmen; Arenas Solà, Concepción; Gatti, Richard A; Cormand Rifà, Bru; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa |
2015 | EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome | Canals Montferrer, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl |
1-Dec-2018 | Functional characterization of a GGPPS variant indentified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types | Roca Ayats, Neus; Ng, Pei Ying; Garcia Giralt, Natàlia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Diez Pérez, Adolfo |
14-Mar-2019 | Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. | Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero, Diana; Mellibovsky, Leonardo; Nogués Solán, Xavier; Díez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
2-Jun-2020 | Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece | Dimitriou, Evangelia; Moraitou, Marina; Cozar, Mónica; Serra Vinardell, Jenny; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Mavridou, Irene; Michelakakis, Helen |
24-Oct-2019 | Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome | Benetó, Noelia; Cozar, Mónica; García-Morant, María; Creus Bachiller, Edgar; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
Jan-2020 | Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome | Benetó, Noelia; Cozar, Mónica; Gort i Mas, Laura; Pacheco, Laura; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
1-Nov-2018 | Genetic study of atypical femoral fractures using exome sequencing in three affected sisters and three unrelated patients | Roca Ayats, Neus; Falcó-Mascaró, Maite; Garcia Giralt, Natàlia; Cozar, Mónica; Abril Ferrando, Josep Francesc, 1970-; Quesada Gómez, José Manuel; Prieto-Alhambra, Daniel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Diez Pérez, Adolfo; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
6-Jan-2021 | Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts | Martínez-Gil, Núria; Roca Ayats, Neus; Cozar, Mónica; Garcia Giralt, Natàlia; Ovejero, Diana; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
21-Apr-2011 | Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients | Cozar, Mónica; Urreizti, Roser; Vilarinho, Laura; Grosso, Carola; Dodelson de Kremer, Raquel; Asteggiano, Carla; Dalmau Obrador, Josep; García, Ana; Vilaseca, María; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
28-Feb-2020 | Neuronal and astrocytic differentiation from Sanfilippo C syndrome iPSCs for disease modeling and drug development | Benetó, Noelia; Cozar, Mónica; Castilla-Vallmanya, Laura; Zetterdahl, Oskar G.; Sacultanu, Madalina; Segur-Bailach, Eulalia; García-Morant, María; Ribes, Antonia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
Jun-2022 | On the association between Chiari malformation type 1, bone mineral density and bone related genes | Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián.; Patiño, Juan David; Cozar, Mónica; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
Sep-2020 | Pharmacological inhibition of soluble epoxide hydrolase protects cognitive impairment in a Niemann-Pick mice model | Companys Alemany, Júlia; Cozar, Mónica; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Codony Gisbert, Sandra; Vázquez Cruz, Santiago; Pallàs i Llibería, Mercè, 1964-; Griñán Ferré, Christian |