TY  - GEN
AU  - Vilariño-Güell, Carles
AU  - Zimprich, Alexander
AU  - Martinelli-Boneschi, Filippo
AU  - Herculano, Bruno
AU  - Wang, Zhe
AU  - Matesanz, Fuencisla
AU  - Urcelay, Elena
AU  - Vandenbroeck, Koen
AU  - Leyva, Laura
AU  - Gris, Denis
AU  - Massaad, Charbel
AU  - Quandt, Jacqueline A
AU  - Traboulsee, Anthony L
AU  - Encarnacion, Mary
AU  - Bernales, Cecily Q
AU  - Follett, Jordan
AU  - Yee, Irene M
AU  - Criscuoli, Maria G
AU  - Deutschländer, Angela
AU  - Reinthaler, Eva M
AU  - Zrzavy, Tobias
AU  - Mascia, Elisabetta
AU  - Zauli, Andrea
AU  - Esposito, Federica
AU  - Alcina, Antonio
AU  - Izquierdo, Guillermo
AU  - Espino-Paisán, Laura
AU  - Mena, Jorge
AU  - Antigüedad, Alfredo
AU  - Urbaneja-Romero, Patricia
AU  - Ortega-Pinazo, Jesús
AU  - Song, Weihong
AU  - Sadovnick, A Dessa
PY  - 2019
DO  - 10.1371/journal.pgen.1008180
UR  - http://hdl.handle.net/20.500.12105/17874
AB  - 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...
LA  - eng
KW  - Adult
KW  - Codon, Nonsense
KW  - Demyelinating Diseases
KW  - Exome
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Inflammation
KW  - Male
KW  - Middle Aged
KW  - Multiple Sclerosis
KW  - Myelin Sheath
KW  - Nerve Degeneration
KW  - Neurons
KW  - Pedigree
KW  - Transcriptome
KW  - Exome Sequencing
KW  - Young Adult
TI  - Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
TY  - research article
ER  -