E. Muntéis Olivas

Encephalitis with mGluR5 antibodies

N. Tubridy, M. Rosenfeld, J. Antoine, 2018, Neurology.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.