Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants

被引：0
|
作者：
Revert Barbera, Anna [1 ]
Fernandez Isern, Guerau [2 ]
Dario Ortigoza-Escobar, Juan [3 ,4 ,5 ]
机构：
[1] Hosp Mar Parc Salut Mar, Dept Neurol, Barcelona, Spain
[2] Inst Recerca Sant Joan Deu, Dept Genet & Mol Med IPER, Barcelona, Spain
[3] Inst Salud Carlos III, U 703 Ctr Biomed Res Rare Dis CIBER ER, Barcelona, Spain
[4] Hosp Sant Joan Deu Barcelona, Inst Recerca, Pediat Neurol Dept, Movement Disorders Unit, Barcelona, Spain
[5] European Reference Network Rare Neurol Dis ERN RN, Barcelona, Spain
来源：
MOVEMENT DISORDERS | 2023年 / 38卷 / 06期
关键词：
D O I：
10.1002/mds.29435
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：1118 / 1119
页数：3
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