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)

Sun, Y.; Almomani, R.; Breedveld, G.J.; Santen, G.W.E.; Aten, E.; Lefeber, D.J.; ... ; Maat-Kievit, A.J.A. (2013)

Article / Letter to editor

• spinocerebellar ataxia
• SCAR7
• TPP1
• neurodegenerative disorders

• All authors: Sun, Y.; Almomani, R.; Breedveld, G.J.; Santen, G.W.E.; Aten, E.; Lefeber, D.J.; Hoff, J.I.; Brusse, E.; Verheijen, F.W.; Verdijk, R.M.; Kriek, M.; Oostra, B.; Breuning, M.H.; Losekoot, M.; Dunnen, J.T. den; Warrenburg, B.P. van de; Maat-Kievit, A.J.A.
• Date: 2013-05-31
• Journal: Human Mutation
• Volume: 34
• Issue: 5
• Pages: 706 - 713
• DOI: doi:10.1002/humu.22292