Susan Maxwell

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome

Jacqueline Palace, David Beeson, Jacqueline Palace, 2012, Annals of the New York Academy of Sciences.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Peter Donnelly, Nicola Carboni, Hanns Lochmüller, 2013, Brain : a journal of neurology.