Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Xiaoming JiaLohith MadireddyStacy CaillierAdam SantanielloFederica EspositoGiancarlo ComiOlaf StuveYuan ZhouBruce TaylorTrevor KilpatrickFilippo Martinelli-BoneschiBruce A C CreeJorge R OksenbergStephen L HauserSergio E BaranziniPublished in: Annals of neurology (2018)
This study provides evidence to support the hypothesis that rare Mendelian genetic variants contribute to the risk for developing progressive forms of MS. Ann Neurol 2018;83:51-63.