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：

英国惠康基金; 英国医学研究理事会;

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

页码：1827 / 1829

页数：4

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