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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 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 |
| Jan-2020 | Bone development and remodeling in metabolic disorders | Serra Vinardell, Jenny; Roca Ayats, Neus; Ugarte, Laura de; Vilageliu i Arqués, Lluïsa; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| 10-Mar-2017 | A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes | Urreizti, Roser; Cueto Gonzalez, Anna Maria; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort Roca, Magda; Hecht, Jochen; Tizzano Ferrari, Eduardo; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana |
| 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 |
| 1999 | Patologia molecular de la malaltia de Gaucher | Grinberg Vaisman, Daniel Raúl; Cormand Rifà, Bru; Gort i Mas, Laura; Montfort Roca, Magda; Chabás Bergón, Amparo; Vilageliu i Arqués, Lluïsa |
| 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 |
| 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 Rubió, Maria Antònia; Ahlenius, Henrik; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Canals Montferrer, Isaac |
| 8-May-2014 | Cholesterol regulates Syntaxin 6 trafficking at the TGN-endosomal boundaries | Reverter Martín, Meritxell; Rentero Alfonso, Carles; García Melero, Ana; Hoque, Monira; Vilà de Muga, Sandra; Álvarez-Guaita, Anna; Conway, James; Wood, Peta; Cairns, Rose; Lykopoulou, Lila; Grinberg Vaisman, Daniel Raúl; Vilageliu i Arqués, Lluïsa; Bosch i Rodríguez, Marta; Heeren, Joerg; Blasi Cabús, Joan; Timpson, Paul; Pol i Sorolla, Albert; Tebar Ramon, Francesc; Murray, Rachael Z.; Grewal, Thomas |
| 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. |
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