J. Schröder

Novel missense mutations in the glycogen‐branching enzyme gene in adult polyglucosan body disease

J. Malin, M. Vorgerd, F. Ziemssen, 2000, Annals of neurology.

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

K. Zerres, S. Rudnik-Schöneborn, V. Ramaekers, 2001, Journal of the Neurological Sciences.