A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient

被引：40

作者：

Seibler, Philip ^{[1
]}

Djarmati, Ana ^{[1
]}

Langpap, Brigitte ^{[1
]}

Hagenah, Johann ^{[1
]}

Schmidt, Alexander ^{[1
]}

Brueggemann, Norbert ^{[1
]}

Siebner, Hartwig ^{[1
]}

Jabusch, Hans-Christian ^{[1
]}

Altenmueller, Eckart ^{[1
]}

Muenchau, Alexander ^{[1
]}

Lohmann, Katja ^{[1
]}

Klein, Christine ^{[1
]}

机构：

[1] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

来源：

LANCET NEUROLOGY | 2008年 / 7卷 / 05期

关键词：

D O I：

10.1016/S1474-4422(08)70075-9

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：380 / 381

页数：2

共 2 条

[1] DYT16, a novel young-onset dystonia-parkinson ism disorder:: identification of a segregating mutation in the stress-response protein PRKRA [J].

Camargos, Sarah ;

Scholz, Sonja ;

Simon-Sanchez, Javier ;

Paisan-Ruiz, Coro ;

Lewis, Patrick ;

Hernandez, Dena ;

Ding, Jinhui ;

Gibbs, J. Raphael ;

Cookson, Mark R. ;

Bras, Jose ;

Guerreiro, Rita ;

Oliveira, Catarina Resende ;

Lees, Andrew ;

Hardy, John ;

Cardoso, Francisco ;

Singleton, Andrew B. .

LANCET NEUROLOGY, 2008, 7 (03) :207-215

[2] Deciphering the role of heterozygous mutations in genes associated with parkinsonism [J].

Klein, Christine ;

Lohmann-Hedrich, Katja ;

Rogaeva, Ekaterina ;

Schlossmacher, Michael G. ;

Lang, Anthony E. .

LANCET NEUROLOGY, 2007, 6 (07) :652-662

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