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| Issue Date | Title | Author(s) |
|---|---|---|
| 22-Oct-2020 | Sanfilippo syndrome: molecular basis, disease models and therapeutic approaches | Benetó, Noelia; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Canals Montferrer, Isaac |
| 14-Oct-2015 | Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks | Canals Montferrer, Isaac; Soriano i Fradera, Jordi; Orlandi, Javier G.; Torrent Juan, Roger; Richaud-Patin, Yvonne; Jiménez-Delgado, Senda; Merlin, Simone; Follenzi, Antonia; Consiglio, Antonella; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Raya Chamorro, Ángel |
| 26-Mar-2021 | Soluble Epoxide Hydrolase Inhibition Ameliorates Phenotype and Cognitive Capabilities in a Murine Model of Niemann Pick Disease Type C | Griñán Ferré, Christian; Companys Alemany, Júlia; Jarne, Júlia; Codony Gisbert, Sandra; González Castillo, Celia; Ortuño Sahagún, Daniel; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl; Vázquez Cruz, Santiago; Pallàs i Llibería, Mercè, 1964- |
| 2022 | Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report | Andrade, Isadora; Ribeiro, River; Carneiro, Zumira A.; Giugliani, Roberto; Pereira, Catarina; Cozma, Claudia; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Lourenco, Charles M. |
| 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 |
| 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 |
| Feb-2020 | Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules | Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel Moreno, Bernat; Alibés, Andreu; Baena, Neus; Pineda Marfà, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Vilageliu i Arqués, Lluïsa; Brems, Hilde; Grinberg Vaisman, Daniel Raúl; Legius, Eric; Serra Arenas, Eduard |
| 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-Dec-2014 | Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations | Matos, Liliana; Canals Montferrer, Isaac; Dridi, Larbi; Choi, Yoo; Prata, Maria Joao; Jordan, Peter; Desviat, Lourdes R.; Pérez, Belén; Pshezhetsky, Alexey V.; Grinberg Vaisman, Daniel Raúl; Alves, Sandra; Vilageliu i Arqués, Lluïsa |
| 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 |
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