Article
Nuclear Receptor NR1H3 in Familial Multiple Sclerosis.
Neuron - 1 Jun 2016
Wang Zhe, Sadovnick A Dessa, Traboulsee Anthony L, Ross Jay P, Bernales Cecily Q, Encarnacion Mary, Yee Irene M, de Lemos Madonna, Greenwood Talitha, Lee Joshua D, Wright Galen, Ross Colin J, Zhang Si, Song Weihong, Vilariño-Güell Carles
Abstract excerpt
Multiple sclerosis (MS) is an inflammatory disease characterized by myelin loss and neuronal dysfunction. Despite the aggregation observed in some families, pathogenic mutations have remained elusive. In this study, we describe the identification of NR1H3 p.Arg415Gln in seven MS patients from two multi-incident families presenting severe and progressive disease, with an average age at onset of 34 years....
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