Publications in collaboration with researchers from Instituto de Salud Carlos III (2)

2019

  1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    Seizure, Vol. 71, pp. 161-165

2015

  1. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

    Neurobiology of Disease, Vol. 83, pp. 44-53