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      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, Oscar; 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) ...
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      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 ...