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Results 1-10 of 59 (Search time: 0.019 seconds).
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Issue DateTitleAuthor(s)
8-May-2014Cholesterol regulates Syntaxin 6 trafficking at the TGN-endosomal boundariesReverter Martín, Meritxell; Rentero Alfonso, Carles; Garcia Melero, Ana; Hoque, Monira; Vilà de Muga, Sandra; Alvarez-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
Nov-2013Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studiesCarreño, Oriel; Corominas Castiñeira, Roser; Serra, Selma Angèlica; Sintas Vives, Cèlia; Fernàndez Castillo, Noèlia; Vila Pueyo, Marta; Toma, Claudio; González Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg Vaisman, Daniel Raúl; Valverde, Miguel Ángel; Fernández-Fernández, José Manuel; Macaya Ruiz, Alfons; Cormand Rifà, Bru
10-Nov-2015MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bonesDe-Ugarte, Laura; Yoskovitz, Guy; Balcells Comas, Susana; Güerri-Fernández, Robert; Martínez-Díaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solán, Xavier; Grinberg Vaisman, Daniel Raúl; Garcia Giralt, Natàlia; Díez Pérez, Adolfo
12-Jan-2018A de novo FOXP1 truncating mutation in a patient originally diagnosed as C SyndromeUrreizti, Roser; Damanti, Sarah; Esteve, Carla; Franco Valls, Héctor; Castilla Vallmanya, Laura; Tonda, Raul; Cormand Rifà, Bru; Vilageliu i Arqués, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
24-Dec-2014Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutationsMatos, 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-2015Evaluation of aminoglycoside and non-aminoglycoside compounds for stop-codon readthrough therapy in four lysosomal storage diseasesGómez 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
2015EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndromeCanals Montferrer, Isaac; Benetó, Noelia; Cozar, Mónica; Vilageliu i Arqués, Lluïsa; Grinberg Vaisman, Daniel Raúl
2022Genetic analysis in a familial case with high bone mineral density suggests additive effects at two lociMartínez-Gil, Núria; Ovejero, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués, Xavier; Rabionet Janssen, Raquel; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana
7-Sep-2022Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany i Nadal, Gemma; Artuch, Rafael; Grinberg Vaisman, Daniel Raúl; Rabionet Janssen, Raquel; Balcells Comas, Susana; Urreizti, Roser
20-Apr-2020Effect of the tumor suppressor miR-320a on viability and functionality of human osteosarcoma cell lines compared to primary osteoblastsDe-Ugarte, Laura; Balcells Comas, Susana; Güerri Fernández, Robert; Grinberg Vaisman, Daniel Raúl; Diez-Perez, Adolfo; Nogués Solán, Xavier; Garcia Giralt, Natàlia