Joanna C. Jen

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Monique M. Ryan, Stanley F. Nelson, Andrew J. Kornberg, 2012, Nature Genetics.

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

Georg Auburger, Thomas Deller, Udo Rüb, 2013, Progress in Neurobiology.