Journal Article
Hu, H.; Matter, M. L.; Issa-Jahns, L.; Jijiwa, M.; Kraemer, N.; Musante, L.; de la Vega, M.; Ninnemann, O.; Schindler, D.; Damatova, N. et al.; Eirich, K.; Sifringer, M.; Schrotter, S.; Eickholt, B. J.; van den Heuvel, L.; Casamina, C.; Stoltenburg-Didinger, G.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.: Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Annals of Clinical and Translational Neurology
1 (12), pp. 1024 - 1035 (2014)