Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes

by Josep Pol-Fuster, Josep Pol-Fuster, Francesca Cañellas, Francesca Cañellas, Laura Ruiz-Guerra, Laura Ruiz-Guerra, Aina Medina-Dols, Aina Medina-Dols, Bàrbara Bisbal-Carrió, Bàrbara Bisbal-Carrió, Víctor Asensio, Víctor Asensio, Bernat Ortega-Vila, Bernat Ortega-Vila, Diego Marzese, Diego Marzese, Carme Vidal, Carmen Santos, Jerònia Lladó, Jerònia Lladó, Gabriel Olmos, Gabriel Olmos, Damià Heine-Suñer, Damià Heine-Suñer, Konstantin Strauch, Konstantin Strauch, Antònia Flaquer, Antònia Flaquer, Cristòfol Vives-Bauzà, Cristòfol Vives-Bauzà, Cristòfol Vives-Bauzà
Published 2021-04-01

The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain

by Josep Pol-Fuster, Francesca Cañellas, Laura Ruiz-Guerra, Aina Medina-Dols, Bàrbara Bisbal-Carrió, Bernat Ortega-Vila, Jaume Llinàs, Jessica Hernandez-Rodriguez, Jerònia Lladó, Gabriel Olmos, Konstantin Strauch, Damià Heine-Suñer, Cristòfol Vives-Bauzà, Antònia Flaquer
Published 2021-07-01

PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease.

by Wencheng Liu, Cristofol Vives-Bauza, Rebeca Acín-Peréz-, Ai Yamamoto, Yingcai Tan, Yanping Li, Jordi Magrané, Mihaela A Stavarache, Sebastian Shaffer, Simon Chang, Michael G Kaplitt, Xin-Yun Huang, M Flint Beal, Giovanni Manfredi, Chenjian Li
Published 2009-01-01

Relapsing–Remitting Multiple Sclerosis Is Characterized by a T Follicular Cell Pro-Inflammatory Shift, Reverted by Dimethyl Fumarate Treatment

by Vanesa Cunill, Vanesa Cunill, Margarita Massot, Antonio Clemente, Antonio Clemente, Carmen Calles, Valero Andreu, Vanessa Núñez, Antonio López-Gómez, Antonio López-Gómez, Rosa María Díaz, María de los Reyes Jiménez, María de los Reyes Jiménez, Jaime Pons, Jaime Pons, Cristòfol Vives-Bauzà, Joana Maria Ferrer, Joana Maria Ferrer
Published 2018-05-01

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

by Emmanuelle C. Genin, Sylvie Bannwarth, Françoise Lespinasse, Bernardo Ortega-Vila, Konstantina Fragaki, Kie Itoh, Elodie Villa, Sandra Lacas-Gervais, Manu Jokela, Mari Auranen, Emil Ylikallio, Alessandra Mauri-Crouzet, Henna Tyynismaa, Anna Vihola, Gaelle Augé, Charlotte Cochaud, Hiromi Sesaki, Jean-Ehrland Ricci, Bjarne Udd, Cristofol Vives-Bauza, Véronique Paquis-Flucklinger
Published 2018-11-01

<em>RP11-362K2.2:RP11-767I20.1</em> Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis

by Elena Muiño, Jara Cárcel-Márquez, Caty Carrera, Laia Llucià-Carol, Cristina Gallego-Fabrega, Natalia Cullell, Miquel Lledós, José Castillo, Tomás Sobrino, Francisco Campos, Emilio Rodríguez-Castro, Mònica Millán, Lucía Muñoz-Narbona, Alejandro Bustamante, Elena López-Cancio, Marc Ribó, José Álvarez-Sabín, Jordi Jiménez-Conde, Jaume Roquer, Eva Giralt-Steinhauer, Carolina Soriano-Tárraga, Cristófol Vives-Bauza, Rosa Díaz-Navarro, Silvia Tur, Victor Obach, Juan F. Arenillas, Tomás Segura, Gemma Serrano-Heras, Joan Martí-Fàbregas, Raquel Delgado-Mederos, Pol Camps-Renom, Luis Prats-Sánchez, Daniel Guisado, Marina Guasch, Rebeca Marin, Alejandro Martínez-Domeño, Maria del Mar Freijo-Guerrero, Francisco Moniche, Juan Antonio Cabezas, Mar Castellanos, Jerzy Krupinsky, Daniel Strbian, Turgut Tatlisumak, Vincent Thijs, Robin Lemmens, Agnieszka Slowik, Joanna Pera, Laura Heitsch, Laura Ibañez, Carlos Cruchaga, Rajat Dhar, Jin-Moo Lee, Joan Montaner, Israel Fernández-Cadenas, on behalf of International Stroke Genetic Consortium, the Spanish Stroke Genetic Consortium
Published 2021-07-01