Browsing by Author Cormand Rifà, Bru
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| Issue Date | Title | Author(s) |
|---|---|---|
| 17-Jul-2023 | A causal effects of gut microbiota in the development of migraine | Cormand Rifà, Bru; Cuenca León, Ester; International Headache Genetics Consortium; He, Qiang; Wang, Wenjing; Xiong, Yang; Tao, Chuanyuan; Ma, Lu; Ma, Junpeng; You, Chao |
| 12-Jan-2018 | A de novo FOXP1 truncating mutation in a patient originally diagnosed as C Syndrome | Urreizti, 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 |
| 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 |
| 8-Aug-2016 | A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence | Cabana Domínguez, Judit; Roncero, Carlos; Grau-López, Lara; Rodríguez-Cintas, Laia; Barral, Carmen; Abad, Alfonso C.; Erikson, Galina; Wineinger, Nathan E; Torrico Avilés, Bàrbara; Arenas Solà, Concepción; Casas, Miquel; Ribasés Haro, Marta; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia |
| 2010 | A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis | Serra, 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. |
| 29-Jan-2019 | ADGRL3 (LPHN3) variants predict substance use disorder | Arcos Burgos, Mauricio; Ribasés Haro, Marta; Martínez, Ariel F.; Ramos Quiroga, Josep Antoni; Sánchez Mora, Cristina; Richarte, Vanesa; Roncero, Carlos; Cormand Rifà, Bru; Fernàndez Castillo, Noèlia; Casas, Miguel; Vélez, Jorge I.; Lopera, Francisco; Pineda, David A.; Palacio, Juan D.; Molina, Brooke S. G.; Boden, Margaret T.; Wallis, Deeann; Lidbury, Brett; Patel, Hardip; Newman, Saul; Easteal, Simon; Swanson, James; Mastronardi, Claudio A.; Volkow, Nora D., 1956-; Acosta, Maria T.; Castellanos, Francisco X.; Leon, José de; Muenke, Maximillian; Acosta López, Johan E.; MTA Cooperative Group; Cervantes Henriquez, Martha L.; Sánchez Rojas, Manuel G.; Puentes Rozo, Pedro J.; Molina, Brooke S. G. |
| 27-Feb-2007 | Alteracions de la VIA RAS-RAF en càncer gastrointestinal amb defectes de reparació genòmica | Domingo Villanueva, Enric |
| 1-Jun-2018 | An integrated analysis of genes and functional pathways for aggression in human and rodent models | Zhang-James, Yanli; Fernàndez Castillo, Noèlia; Hess, Jonathan L.; Malki, Karim; Glatt, Stephen J.; Cormand Rifà, Bru; Faraone, Stephen V. |
| 22-Jun-2018 | Analysis of shared heritability in common disorders of the brain | Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido J.; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Walters, James; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; IGAP consortium; IHGC consortium; ILAE Consortium on Complex Epilepsies; IMSGC consortium; IPDGC consortium; METASTROKE; Intracerebral Hemorrhage Studies of the International Stroke Genetics Consortium [...] Rabionet R [...]; Attention-Deficit Hyperactivity Disorder Working Group of the Psychiatric Genomics Consortium; Anorexia Nervosa Working Group of the Psychiatric Genomics Consortium; Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium; Bipolar Disorders Working Group of the Psychiatric Genomics Consortium; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium; Tourette Syndrome; Obsessive Compulsive Disorder; Tourette Syndrome Working Group of the Psychiatric Genomics Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Cormand Rifà, Bru; Rabionet Janssen, Raquel |
| 3-Nov-2011 | Anàlisi genètica i funcional de la migranya hemiplègica i la migranya comuna | Carreño, Oriel |
| 9-Apr-2008 | Anàlisi genètica i molecular de les migranyes hereditàries | Cuenca León, Ester |
| 22-Feb-2008 | Análisis genético y molecular del síndrome de Maroteaux-Lamy | Garrido Fernández, Elena |
| Aug-2023 | Anxiety, mood, and substance use disorders in adult men and women with and without Attention-Deficit/Hyperactivity Disorder: a substantive and methodological overview. | Hartman, Catharina A.; Larsson, Henrik; Vos, Melissa; Bellato, Alessio; Libutzki, Berit; Solberg, Berit Skretting; Chen, Qi; Du Rietz, Ebba; Mostert, Jeanette C.; Kittel-Schneider, Sarah; Cormand Rifà, Bru; Ribasés Haro, Marta; Klungsøyr, Kari; Haavik, Jan; Dalsgaard, Søren; Cortese, Samuele; Faraone, Stephen V.; Reif, Andreas |
| 18-Feb-2011 | Aplicació de tecnologies optimitzades al diagnòstic molecular de la malaltia de von Willebrand per a l’estudi de la relació genotip-fenotip | Corrales Insa, Irene |
| 31-Aug-2017 | Association of the PLCB1 gene with drug dependence | Cabana Domínguez, Judit; Roncero, Carlos; Pineda Cirera, Laura; Palma Álvarez, R. Felipe; Ros Cucurull, Elena; Grau-López, Lara; Esojo, Abderaman; Casas, Miquel; Arenas Solà, Concepción; Ramos Quiroga, Josep Antoni; Ribasés Haro, Marta; Fernàndez Castillo, Noèlia; Cormand Rifà, Bru |
| 2-Jun-2009 | Avaluació de gens de susceptibilitat a formes comunes de migranya | Corominas Castiñeira, Roser |
| 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. |