Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Por Dana M. Bis-Brewer, Dana M. Bis-Brewer, Stephan Züchner, Stephan Züchner
Publicado em 2018-11-01

A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease

Por Dolzhanskaya, Natalia, Gonzalez, Michael A., Sperziani, Fiorella, Stefl, Shannon, Messing, Jeffrey, Wen, Guang Y, Alexov, Emil, Stephan Zuchner, S, Velinov, Milen
Publicado em 2014

Correction: Exome Sequencing of a Multigenerational Human Pedigree.

Por Dale J. Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A. Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T. Harkins, Stephan Züchner
Publicado em 2009-01-01