Browsing by Author Corominas Castiñeira, Roser

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Showing results 1 to 13 of 13
Issue DateTitleAuthor(s)
2010A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosisSerra, Selma A.; Cuenca-León, Ester; Llobet Berenguer, Artur, 1972-; Rubio-Moscardo, Francisca; Plata, Cristina; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Valverde, Miguel A.; Macaya, Alfons; Cormand Rifà, Bru; Fernández-Fernández, José M.
2-Jun-2009Avaluació de gens de susceptibilitat a formes comunes de migranyaCorominas Castiñeira, Roser
28-Jun-2018bigSCale: an analytical framework for big-scale single-cell dataIacono, Giovanni; Mereu, Elisabetta; Guillaumet-Adkins, Amy; Corominas Castiñeira, Roser; Cuscó, Ivon; Rodríguez Esteban, Gustavo; Gut, Marta; Pérez-Jurado, Luis Alberto; Gut, Ivo; Heyn, Holger
May-2008Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletionCuscó, Ivon; Corominas Castiñeira, Roser; Bayés Colomer, Mònica; Flores, Raquel; Rivera Brugués, Núria; Campuzano Uceda, María Victoria; Pérez-Jurado Luis A.
3-Apr-2019De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application.Wang, Weidi; Corominas Castiñeira, Roser; Lin, Guan Ning
19-Nov-2020Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndromeKuebler, B.; Aran, B.; Flores, R.; Pérez-Jurado, LA.; Veiga, A.; Cuscó, Ivon; Corominas Castiñeira, Roser
31-Aug-2021Full-length isoform transcriptome of the developing human brain provides further insights into autism.Chau, Kevin K.; Zhang, Pan; Urresti, Jorge; Amar, Megha; Pramod, Akula Bala; Chen, Jiaye; Thomas, Amy; Corominas Castiñeira, Roser; Lin, Guan Ning; Iakoucheva, Lilia M.
16-Nov-2020Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)Kuebler, B.; Aran, B.; Flores, R.; Pérez-Jurado, LA.; Veiga, A.; Corominas Castiñeira, Roser; Cuscó, Ivon
27-Aug-2021Molecular genetics of cocaine use disorders in humansFernàndez Castillo, Noèlia; Cabana Domínguez, Judit; Corominas Castiñeira, Roser; Cormand Rifà, Bru
31-May-2017Mutation spectrum in the CACNA1A gene in 49 patients with episodic ataxiaSintas Vives, Cèlia; Carreño, Oriel; Fernàndez Castillo, Noèlia; Corominas Castiñeira, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca León, Ester; Barroeta, Isabel; Roig i Arnall, Carles; Volpini Bertrán, Víctor; Macaya Ruiz, Alfons; Cormand Rifà, Bru
11-Apr-2014Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autismCorominas Castiñeira, Roser; Yang, Xinping; Lin, Guan Ning; Kang, Shuli; Shen, Yun; Ghamsari, Lila; Broly, Martin; Rodriguez, Maria; Tam, Stanley; Trigg, Shelly A.; Fan, Changyu; Yi, Song; Tasan, Murat; Lemmens, Irma; Kuang, Xingyan; Zhao, Nan; Malhotra, Dheeraj; Michaelson, Jacob J.; Vacic, Vladimir; Calderwood, Michael A.; Roth, Frederick P.; Tavernier, Jan; Horvath, Steve; Salehi-Ashtiani, Kourosh; Korkin, Dmitry; Sebat, Jonathan; Hill, David E.; Hao, Tong; Vidal, Marc; Iakoucheva, Lilia M.
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
2009Two-stage case-control association study of dopamine-related genes and migraineCorominas Castiñeira, Roser; Ribasés Haro, Marta; Camina, Montserrat; Cuenca-León, Ester; Pardo, Julio; Boronat, Susana; Sobrido, Maria Jesús; Cormand Rifà, Bru; Macaya, Alfons