Publication
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R’Bibo, David S. Lynch, Bettina Balint, Michèl A.A.P. Willemsen, Matthew E. Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan M. Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas W. Wood, Kailash P. Bhatia
The American Journal of Human Genetics, April 2016, Elsevier
DOI: 10.1016/j.ajhg.2016.02.015