1. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease). Issue 5 (11th March 2013) Authors: Sun, Yu; Almomani, Rowida; Breedveld, Guido J.; Santen, Gijs W.E.; Aten, Emmelien; Lefeber, Dirk J.; Hoff, Jorrit I.; Brusse, Esther; Verheijen, Frans W.; Verdijk, Rob M.; Kriek, Marjolein; Oostra, Ben; Breuning, Martijn H.; Losekoot, Monique; den, Johan T.; van de, Bart P.; Maat‐Kievit, Anneke J.A. Journal: Human mutation Issue: Volume 34:Issue 5(2013:May) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pathogenic: Light or Dark Skin?. Issue 5 (7th April 2014) Authors: den, Johan T. Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 520 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗