Browsing Artículos by Author "Izquierdo, Guillermo"

Now showing items 1-4 of 4

    • Thumbnail

      A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis 

      Matesanz, Fuencisla; Potenciano, Victor; Fedetz, María; Ramos-Mozo, Priscilla; Abad-Grau, María del Mar; Karaky, Mohamed; Barrionuevo, Cristina; Izquierdo, Guillermo; Ruiz-Peña, Juan Luis; García-Sánchez, María Isabel; Lucas, Miguel; Fernández, Óscar; Leyva, Laura; Otaegui, David; Muñoz-Culla, Maider; Olascoaga, Javier; Vandenbroeck, Koen; Alloza Moral, Iraide; Astobiza Pérez, Janire; Rodríguez-Antigüedad Zarranz, Alfredo; Villar, Luisa M.; Alvarez-Cermeño, José Carlos; Malhotra, Sunny; Comabella, Manuel; Montalbán, Xavier; Saiz, Albert; Blanco, Yolanda; Arroyo, Rafael; Varadé, Jezabel; Urcelay, Elena; Alcina, Antonio (Oxford University Pres, 2015-10-01)
      Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, ...
    • Thumbnail

      Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients 

      Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, María; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Goris, An; Astobiza Pérez, Janire; Alloza Moral, Iraide; Rodríguez-Antigüedad Zarranz, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M.; Fernández, Óscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, José Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalbán, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles (Genetics Society of America, 2016-07-01)
      Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) ...
    • Thumbnail

      Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease 

      Vilariño Güell, Carles; Zimprich, Alexander; Martinelli Boneschi, Filippo; Herculano, Bruno; Wang, Zhe; Matesanz, Fuencisla; Urcelay, Elena; Vandenbroeck, Koen; Leyva, Laura; Gris, Denis; Massaad, Charbel; Quandt, Jacqueline A.; Traboulsee, Anthony L.; Encarnacion, Mary; Bernales, Cecily Q.; Follett, Jordan; Yee, Irene M.; Criscuoli, Maria G.; Deutschlander, Angela; Reinthaler, Eva M.; Zrzavy, Tobias; Mascia, Elisabetta; Zauli, Andrea; Esposito, Federica; Alcina, Antonio; Izquierdo, Guillermo; Espino Paisan, Laura; Mena Lucía, Jorge; Rodríguez-Antigüedad Zarranz, Alfredo; Urbaneja Romero, Patricia; Ortega Pinazo, Jesús; Song, Weihong; Sadovnick, A. Dessa (Public Library Science 15(6) : (2019) // Article ID e1008180, 2019-06-06)
      Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms ...
    • Thumbnail

      Human Endogenous Retrovirus HERV-Fc1 Association with Multiple Sclerosis Susceptibility: A Meta-Analysis 

      De la Hera, Belén; Varadé, Jezabel; García-Montojo, Marta; Alcina, Antonio; Fedetz, María; Alloza Moral, Iraide; Astobiza Pérez, Janire; Leyva, Laura; Fernández, Óscar; Izquierdo, Guillermo; Rodríguez-Antigüedad Zarranz, Alfredo; Arroyo, Rafael; Álvarez-Lafuente, Roberto; Vandenbroeck, Koen; Matesanz, Fuencisla; Urcelay, Elena (Public Library Science, 2014-03-03)
      Background: Human endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in ...