Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia

被引：7

作者：

Indelicato, Elisabetta ^{[1
]}

Boesch, Sylvia ^{[1
]}

Baumgartner, Manuela ^{[2
]}

Plecko, Barbara ^{[3
]}

Winkelmann, Juliane ^{[4
,5
,6
,7
]}

Zech, Michael ^{[4
,5
,8
]}

机构：

[1] Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria

[2] Ordensklinikum Linz Barmherzige Schwestern, Abt Entwicklungsneurol & Neuropadiatrie, Linz, Austria

[3] Med Univ Graz, Dept Paediat & Adolescent Med, Div Gen Paediat, Graz, Austria

[4] Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany

[5] Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany

[6] Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany

[7] Munich Cluster Syst Neurol SyNergy, Munich, Germany

[8] Helmholtz Zentrum Munchen Deutsch Forschungszentr, Inst Neurogenom, Ingolstadter Landstr 1, D-85764 Neuherberg, Germany

来源：

MOVEMENT DISORDERS | 2023年 / 38卷 / 02期

关键词：

dystonia; infantile-onset movement disorder; SHQ1; translational control;

D O I：

10.1002/mds.29281

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：355 / 357

页数：3

共 27 条

[1] Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants
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[2] Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
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[3] Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
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[4] Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants"
Indelicato, Elisabetta
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Zech, Michael
MOVEMENT DISORDERS, 2023, 38 (06) : 1119 - 1120
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