De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
PDE10A 的新生突变导致儿童期舞蹈病,伴有双侧纹状体病变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.02.015
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, Giova