Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation

被引:11
作者
Martino, D. [1 ,2 ]
Melzi, V. [3 ]
Franco, G. [3 ]
Kandasamy, N. [4 ]
Monfrini, E. [3 ]
Di Fonzo, A. [3 ]
机构
[1] Kings Coll Hosp NHS Fdn Trust, Dept Neurol, London, England
[2] Queen Elizabeth Hosp Woolwich Lewisham & Greenwic, London, England
[3] Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy
[4] Kings Coll Hosp NHS Fdn Trust, Dept Neuroradiol, London, England
关键词
Kufor-Rakeb; ATP13A2; PARK9; Parkinson's disease; Genetics; Dystonia; P-TYPE ATPASE;
D O I
10.1016/j.parkreldis.2015.09.036
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1378 / 1380
页数:3
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