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

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 have been described. We performed whole-exome sequencing analysis in 132 pati...

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Main Authors: Carles Vilariño-Güell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Fuencisla Matesanz, Elena Urcelay, Koen Vandenbroeck, Laura Leyva, Denis Gris, Charbel Massaad, Jacqueline A Quandt, Anthony L Traboulsee, Mary Encarnacion, Cecily Q Bernales, Jordan Follett, Irene M Yee, Maria G Criscuoli, Angela Deutschländer, Eva M Reinthaler, Tobias Zrzavy, Elisabetta Mascia, Andrea Zauli, Federica Esposito, Antonio Alcina, Guillermo Izquierdo, Laura Espino-Paisán, Jorge Mena, Alfredo Antigüedad, Patricia Urbaneja-Romero, Jesús Ortega-Pinazo, Weihong Song, A Dessa Sadovnick
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-06-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008180