Novel Compound Heterozygous Synaptojanin-1 Mutation Causes L-Dopa-Responsive Dystonia-Parkinsonism Syndrome

作者:Rauschendorf Marc Alexander; Jost Meike; Stock Friedrich; Zimmer Andreas; Roesler Bernd; Rijntjes Michel; Piroth Tobias; Coenen Volker Arnd; Reinacher Peter Christoph; Meyer Philipp T; Frings Lars; Weiller Cornelius; Fischer Judith*; Klebe Stephan*
来源:Movement Disorders, 2017, 32(3): 478-480.
DOI:10.1002/mds.26876