Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

被引：22
|
作者：
Kojovic, Maja [1 ]
Sheerin, Una-Marie [2 ]
Rubio-Agusti, Ignacio [1 ]
Saha, Anirban [3 ]
Bras, Jose [2 ]
Gibbons, Vaneesha [2 ]
Palmer, Rodger [4 ]
Houlden, Henry [2 ]
Hardy, John [2 ,5 ,6 ]
Wood, Nicholas W. [2 ,7 ]
Bhatia, Kailash P. [1 ]
机构：
[1] UCL, Sobell Dept Motor Neurosci & Movement Disorders, Univ Coll London UCL Inst Neurol, London WC1N 3BG, England
[2] UCL, Dept Mol Neurosci, UCL Inst Neurol, London WC1N 3BG, England
[3] Hurstwood Pk Neurol Ctr, Haywards Heath, W Sussex, England
[4] Great Ormond St Hosp Natl Hlth Serv NHS Trust, Reg Cytogenet Lab, NE Thames Reg Genet Serv, London, England
[5] UCL Inst Neurol, Dept Mol Neurosci, London, England
[6] UCL Inst Neurol, Reta Lila Weston Trust Med Res, London, England
[7] UCL, UCL Genet Inst, London WC1N 3BG, England
来源：
MOVEMENT DISORDERS | 2012年 / 27卷 / 14期
基金：
英国医学研究理事会; 英国惠康基金;
关键词：
SNCA DUPLICATION; DISEASE; MUTATIONS; DEMENTIA;
D O I：
10.1002/mds.25199
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：1827 / 1829
页数：4
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