Browsing by Author Cormand Rifà, Bru
Showing results 17 to 36 of 88
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Issue Date | Title | Author(s) |
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13-Jun-2013 | Bases genètiques en la malformació de Chiari tipus i | Urbizu Serrano, Aintzane |
5-Mar-2020 | Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification | Schottlaender, Lucia V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stepanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernadett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling S.; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand Lions, Michael; Houlden, Henry; Cormand Rifà, Bru |
9-Sep-2019 | Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination | Efthymiou, S.; Salpietro, V.; Malintan,N.; Poncelet, M.; Kriouile, Y.; Fortuna, S.; De Zorzi, R.; Payne, K.; Henderson, L.B.; Cortese, A.; Maddirevula, S.; Alhashmi, N.; Wiethoff, S.; Ryten, M.; Botia, J.A.; Provitera, V.; Schuelke, M.; Vandrovcova, J.; SYNAPS Study Group; Walsh, L.; Torti, E.; Iodice, V.; Najafi, M.; Karimiani, E.G.; Maroofian, R.; Siquier-Pernet, K.; Boddaert, N.; De Lonlay, P.; Cantagrel, V.; Aguennouz, M.; El Khorassani, M.; Schmidts, M.; Alkuraya, F.S.; Edvardson, S.; Nolano, M.; Devaux, J.; Houlden, H.; Cormand Rifà, Bru |
20-Apr-2016 | Caenorhabditis elegans as animal model to investigate the cellular mechanism of resistance for the chemotherapeutic agent cisplatin | García Rodríguez, Francisco J. |
26-Oct-2020 | Characterisation of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions | Navas Pérez, Enrique; Vicente García, Cristina; Mirra, Serena; Burguera Hernández, Demian; Fernàndez Castillo, Noèlia; Ferrán, José Luis; López Mayorga, Macarena; Alaiz Noya, Marta; Suárez Pereira, Irene; Antón Galindo, Ester; Ulloa Darquea, Fausto Alexander; Herrera Úbeda, Carlos; Cuscó, Pol; Falcón Moya, Rafael; Rodríguez Moreno, Antonio; D'Aniello, Salvatore; Cormand Rifà, Bru; Marfany i Nadal, Gemma; Soriano García, Eduardo; Carrión, Ángel M.; Carvajal, Jaime J.; Garcia Fernández, Jordi |
21-Feb-2013 | Chiari malformation type I: a case-control association study of 58 developmental genes | Urbizu Serrano, Aintzane; Toma, Claudio; Poca Pastor, María Antonia; Sahuquillo, Juan; Cuenca León, Ester; Cormand Rifà, Bru; Macaya Ruiz, Alfons |
10-Jul-2015 | Combinació de tècniques citogenètiques en la leucèmia limfàtica crònica: estudi de l'heterogeneïtat dels pacients i aplicabilitat a la pràctica clínica | Puiggros Metje, Anna M. |
10-Jan-2022 | Comprehensive exploration of the genetic contribution of the dopaminergic and serotonergic pathways to psychiatric disorders | Cabana Domínguez, Judit; Torrico Avilés, Bàrbara; Reif, Andreas; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru |
2-Jan-2020 | Cross-disorder genetic analyses implicate dopaminergic signaling as a biological link between Attention-Deficit/Hyperactivity Disorder and obesity measures | Roth Mota, Nina; Poelmans, Geert; Klein, Marieke; Torrico, Bàrbara; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru; Reif, Andreas; Franke, Barbara; Arias Vasquez, Alejandro |
1-Jun-2020 | Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache. | Siewert, Katherine M.; Klarin, Derek; Damrauer, Scott M.; Chang, Kyong-Mi; Tsao, Philip S.; Assimes, Themistocles L.; Smith, George Davey; Voight, Benjamin F.; The International Headache Genetics Consortium; Cormand Rifà, Bru |
9-Mar-2020 | DDC expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines upon hypertonic stress | Pineda-Cirera, L.; Cabana Domínguez, Judit; Benetó, N.; Díeze, H.; Arenas Solà, Concepción; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
2-May-2022 | Deficiency of the ywhaz gene, involved in neurodevelopmental disorders, alters brain activity and behaviour in zebrafish | Antón Galindo, Ester; Dalla Vecchia, Elisa; Orlandi, Javier G.; Castro, Gustavo; Gualda, Emilio J.; Young, Andrew M.J.; Guasch-Piqueras, Marc; Arenas Solà, Concepción; Herrera Úbeda, Carlos; Garcia Fernández, Jordi; Aguado Tomàs, Fernando; Loza-Alvarez, Pablo; Cormand Rifà, Bru; Norton, William H.J.; Fernàndez Castillo, Noèlia |
3-Jun-2022 | Differential expression of miR-1249-3p and miR-34b-5p between vulnerable and resilient phenotypes of cocaine addiction | Domingo-Rodriguez, Laura; Cabana Domínguez, Judit; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru; Martín-García, Elena; Maldonado, Rafael, 1961- |
Jan-2019 | Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder | Demontis, Ditte; Walters, Raymond K.; Martin, Joanna; Mattheisen, Manuel; Als, Thomas D.; Agerbo, Esben; Baldursson, Gísli; Belliveau, Rich; Bybjerg-Grauholm, Jonas; Bækvad-Hansen, Marie; Cerrato, Felicia; Chambert, Kimberly; Churchhouse, Claire; Dumont, Ashley; Eriksson, Nicholas; Gandal, Michael; Goldstein, Jacqueline I.; Grasby, Katrina L.; Grove, Jakob; Gudmundsson, Olafur O.; Hansen, Christine S.; Hauberg, Mads Engel; Hollegaard, Mads V.; Howrigan, Daniel P.; Huang, Hailiang; Maller, Julian B.; Martin, Alicia R.; Martin, Nicholas G.; Moran, Jennifer; Pallesen, Jonatan; Palmer, Duncan S.; Pedersen, Carsten Bøcker; Pedersen, Marianne Giørtz; Poterba, Timothy; Poulsen, Jesper Buchhave; Ripke, Stephan; Robinson, Elise B.; Satterstrom, F. Kyle; Stefansson, Hreinn; Stevens, Christine; Turley, Patrick; Walters, G. Bragi; Won, Hyejung; Wright, Margaret J.; ADHD Working Group of the Psychiatric Genomics Consortium (PGC); Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium; 23andMe Research Team; Andreassen, Ole A.; Asherson, Philip; Burton, Christie L.; Boomsma, Dorret I.; Cormand Rifà, Bru; Dalsgaard, Søren; Franke, Barbara; Gelernter, Joel; Geschwind, Daniel; Hakonarson, Hakon; Haavik, Jan; Kranzler, Henry R.; Kuntsi, Joanna; Langley, Kate; Lesch, Klaus-Peter; Middeldorp, Christel; Reif, Andreas; Rhode, Luis Augusto; Roussos, Panos; Schachar, Russell; Sklar, Pamela; Sonuga-Barke, Edmund J. S; Sullivan, Patrick F.; Thapar, Anita; Tung, Joyce Y.; Waldman, Irwin D.; Medland, Sarah E.; Stefansson, Kari; Nordentoft, Merete; Hougaard, David M.; Werge, Thomas; Mors, Ole; Mortensen, Preben Bo; Daly, Mark J.; Faraone, Stephen V.; Børglum, Anders D.; Neale, Benjamin M. |
23-Jul-2020 | Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants | Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H; Efthymiou, Stephanie; SYNaPS Study Group; El Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vicenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry; Cormand Rifà, Bru |
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 |
18-Oct-2016 | Exome chip analyses in adult attention deficit hyperactivity disorder | Zayats, T.; Jacobsen, K. K.; Kleppe, R.; Jacob, C. P.; Kittel-Schneider, S.; Ribasés Haro, Marta; Ramos Quiroga, Josep Antoni; Richarte, Vanesa; Casas, M.; Mota, N. R.; Grevet, Eugenio Horacio; Klein, M.; Corominas, J.; Bralten, J.; Galesloot, T.; Vasquez, A. A.; Herms, Stefan; Forstner, Andreas J.; Larsson, H.; Breen, G.; Asherson, P.; Gross-Lesch, S.; Lesch, Klaus-Peter; Cichon, Sven; Gabrielsen, M. B.; Holmen, O. L.; Bau, Claiton Henrique Dotto; Buitelaar, Jan K.; Kiemeney, Lambertus A. L. M.; Faraone, Stephen V.; Cormand Rifà, Bru; Franke, B.; Reif, Andreas; Haavik, J.; Johansson, S. |
2020 | Exploring allele specific methylation in drug dependence susceptibility | Pineda-Cirera, Laura; Cabana Domínguez, Judit; Grau-López, Laura; Daigree, Constanza; Sánchez-Mora, Cristina; Palma-Álvarez, Raul Felipe; Ramos-Quiroga, Josep Antoni; Ribasés Haro, Marta; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
3-Oct-2019 | Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder | Pineda Cirera, Laura; Shivalikanjli, Anu; Cabana Domínguez, Judit; Demontis, Ditte; Rajagopal, Veera M.; Børglum, Anders D.; Faraone, Stephen V.; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
30-Dec-2021 | Exploring the contribution to ADHD of genes involved in Mendelian Disorders presenting with hyperactivity and/or inattention | Fernàndez Castillo, Noèlia; Cabana Domínguez, Judit; Kappel, Djenifer B.; Torrico Avilés, Bàrbara; Weber, Heike; Lesch, Klaus-Peter; Lao, Oscar; Reif, Andreas; Cormand Rifà, Bru |