N. Dolzhanskaya, M. A. Gonzalez, F. Sperziani, S. Stefl, J. Messing, G. Y. Wen, E. Alexov, S. Zuchner, and M. Velinov. A novel p. Leu (381) Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. Journal of Alzheimer's Disease, IOS Press, volume 39, issue 1, pages 23-27, 2014.