Publication
A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease
Kaisa Kyöstilä, Pernilla Syrjä, Vidhya Jagannathan, Gayathri Chandrasekar, Tarja S. Jokinen, Eija H. Seppälä, Doreen Becker, Michaela Drögemüller, Elisabeth Dietschi, Cord Drögemüller, Johann Lang, Frank Steffen, Cecilia Rohdin, Karin H. Jäderlund, Anu K. Lappalainen, Kerstin Hahn, Peter Wohlsein, Wolfgang Baumgärtner, Diana Henke, Anna Oevermann, Juha Kere, Hannes Lohi, Tosso Leeb
PLoS Genetics, April 2015, PLOS
DOI: 10.1371/journal.pgen.1005169